Variant report

Variant	nsv8458
Chromosome Location	chr1:155180131-155184409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:155180251-155180312	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:155180124-155180418	K562	blood:	n/a	n/a
3	CEBPB	chr1:155180204-155180324	HepG2	liver:	n/a	n/a
4	CTCF	chr1:155182831-155182917	A549	lung:	n/a	chr1:155182856-155182865
5	CTCF	chr1:155182784-155182974	MCF-7	breast:	n/a	chr1:155182856-155182865
6	CTCF	chr1:155182826-155182961	H1-hESC	embryonic stem cell:	n/a	chr1:155182856-155182865
7	CTCF	chr1:155182850-155182887	Gliobla	brain:	n/a	chr1:155182856-155182865
8	CTCF	chr1:155184013-155184054	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:155184011-155184113	GM13976	blood:	n/a	n/a
10	CTCF	chr1:155182844-155182898	NHEK	skin:	n/a	chr1:155182856-155182865
11	CTCF	chr1:155182837-155182903	MCF-7	breast:	n/a	chr1:155182856-155182865
12	CTCF	chr1:155182806-155182917	MCF-7	breast:	n/a	chr1:155182856-155182865
13	CTCF	chr1:155182809-155182940	MCF-7	breast:	n/a	chr1:155182856-155182865
14	CTCF	chr1:155182796-155182900	HepG2	liver:	n/a	chr1:155182856-155182865
15	CTCF	chr1:155181211-155181297	GM10248	blood:	n/a	n/a
16	CTCF	chr1:155182810-155182919	MCF-7	breast:	n/a	chr1:155182856-155182865
17	CTCF	chr1:155182798-155182946	Hela-S3	cervix:	n/a	chr1:155182856-155182865
18	ELF1	chr1:155180478-155180831	K562	blood:	n/a	n/a
19	FOS	chr1:155180104-155180429	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:155180166-155180442	MCF10A-Er-Src	breast:	n/a	n/a
21	GABPA	chr1:155182160-155182312	HepG2	liver:	n/a	n/a
22	GABPA	chr1:155182023-155182411	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr1:155182174-155182330	HepG2	liver:	n/a	n/a
24	HCFC1	chr1:155177784-155180286	Hela-S3	cervix:	n/a	n/a
25	HEY1	chr1:155181137-155181449	K562	blood:	n/a	n/a
26	HEY1	chr1:155182143-155182379	K562	blood:	n/a	n/a
27	HEY1	chr1:155183660-155184163	K562	blood:	n/a	n/a
28	HEY1	chr1:155180404-155180763	K562	blood:	n/a	n/a
29	MYC	chr1:155182240-155182270	HUVEC	blood vessel:	n/a	n/a
30	MYC	chr1:155183329-155183591	MCF-7	breast:	n/a	n/a
31	MYC	chr1:155182333-155182351	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr1:155182896-155183039	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:155182500-155182517	K562	blood:	n/a	n/a
34	POLR2A	chr1:155182762-155183418	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:155180874-155180939	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:155181945-155181986	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:155183989-155185187	GM12892	blood:	n/a	n/a
38	POLR2A	chr1:155184011-155186728	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:155180424-155180720	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:155183849-155185067	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:155183879-155185483	GM12891	blood:	n/a	n/a
42	POLR2A	chr1:155184329-155184388	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:155183944-155185346	GM12892	blood:	n/a	n/a
44	POLR2A	chr1:155180699-155180913	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:155182638-155183562	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:155181233-155181417	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:155180993-155182347	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:155181784-155181959	K562	blood:	n/a	n/a
49	POLR2A	chr1:155182400-155182432	K562	blood:	n/a	n/a
50	POLR2A	chr1:155182824-155183363	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155181615-155181665	GM06990	blood:	n/a
2	chr1:155181615-155181665	GM19239	blood:	n/a
3	chr1:155181615-155181665	HCT-116	colon:	n/a
4	chr1:155181615-155181665	NH-A	brain:	n/a
5	chr1:155181615-155181665	HRE	kidney:	n/a
6	chr1:155181615-155181665	Hepatocyte	liver:	n/a
7	chr1:155181615-155181665	ovcar-3	ovarian:	n/a
8	chr1:155181615-155181665	ProgFib	skin:	n/a
9	chr1:155181615-155181665	IMR90	lung:	fetal
10	chr1:155181615-155181665	HCF	heart:	n/a
11	chr1:155181615-155181665	AoSMC	blood vessel:	n/a
12	chr1:155181615-155181665	HRCEpiC	kidney:	n/a
13	chr1:155181615-155181665	U87	brain:	n/a
14	chr1:155181615-155181665	HUVEC	blood vessel:	n/a
15	chr1:155181615-155181665	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:155181615-155181665	AG04449	skin:	fetal
17	chr1:155181615-155181665	Jurkat	blood:	n/a
18	chr1:155181615-155181665	SK-N-SH_RA	brain:	n/a
19	chr1:155181615-155181665	SKMC	muscle:	n/a
20	chr1:155181615-155181665	AG04450	lung:	fetal
21	chr1:155181615-155181665	GM12892	blood:	n/a
22	chr1:155181615-155181665	Caco-2	colon:	n/a
23	chr1:155181615-155181665	H1-hESC	embryonic stem cell:	embryo
24	chr1:155181615-155181665	MCF-7	breast:	n/a
25	chr1:155181615-155181665	HL-60	blood:	n/a
26	chr1:155181615-155181665	AG10803	skin:	n/a
27	chr1:155181615-155181665	T-47D	breast:	n/a
28	chr1:155181615-155181665	GM12878	blood:	n/a
29	chr1:155181615-155181665	NHDF-neo	bronchial:	n/a
30	chr1:155181615-155181665	SK-N-MC	brain:	n/a
31	chr1:155181615-155181665	NHBE	bronchial:	n/a
32	chr1:155181615-155181665	NB4	blood:	n/a
33	chr1:155181615-155181665	PFSK-1	brain:	n/a
34	chr1:155181615-155181665	HIPEpiC	eye:	n/a
35	chr1:155181615-155181665	K562	blood:	n/a
36	chr1:155181615-155181665	HEK293	kidney:	embryo
37	chr1:155181615-155181665	ECC-1	luminal epithelium:	n/a
38	chr1:155181615-155181665	RPTEC	kidney:	n/a
39	chr1:155181615-155181665	HEEpiC	esophagus:	n/a
40	chr1:155181615-155181665	AG09309	skin:	n/a
41	chr1:155181615-155181665	A549	lung:	n/a
42	chr1:155181615-155181665	GM12891	blood:	n/a
43	chr1:155181615-155181665	HMEC	breast:	n/a
44	chr1:155181615-155181665	BJ	skin:	n/a
45	chr1:155181615-155181665	HCM	heart:	n/a
46	chr1:155181615-155181665	BE2_C	brain:	n/a
47	chr1:155181615-155181665	HAEpiC	amniotic membrane:	n/a
48	chr1:155181615-155181665	SAEC	small airway:	n/a
49	chr1:155181615-155181665	PrEC	prostate:	n/a
50	chr1:155181615-155181665	AG09319	gingival:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
2	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:
3	chr1:155178845..155181651-chr1:155183857..155185772,2	MCF-7	breast:
4	chr1:155178085..155180527-chr1:155241638..155244454,2	K562	blood:
5	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
6	chr1:155177501..155180439-chr1:155241902..155244852,3	MCF-7	breast:
7	chr1:155175313..155180738-chr1:155230329..155234021,8	MCF-7	breast:
8	chr1:155175739..155181576-chr1:155185947..155190429,10	K562	blood:
9	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
10	chr1:155178662..155180610-chr1:155180712..155183459,2	K562	blood:
11	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
12	chr1:155106358..155107894-chr1:155178514..155180234,2	K562	blood:
13	chr1:155176742..155181811-chr1:155241351..155243659,5	K562	blood:
14	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
15	chr1:155183199..155186042-chr1:155209567..155212010,2	K562	blood:
16	chr1:155171519..155180465-chr1:155194608..155199196,19	MCF-7	breast:
17	chr1:155056523..155059485-chr1:155177407..155180672,3	K562	blood:
18	chr1:155179163..155181119-chr1:155277191..155279761,2	K562	blood:
19	chr1:155175518..155178387-chr1:155179138..155182691,3	MCF-7	breast:
20	chr1:155178436..155180973-chr1:155219281..155221759,2	K562	blood:
21	chr1:155176808..155180528-chr1:155231411..155234045,4	K562	blood:
22	chr1:155180006..155181850-chr1:155210122..155211895,2	K562	blood:
23	chr1:155178662..155180610-chr1:155180712..155183459,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THBS3-1	chr1:155183431-155183610	ENSG00000236263.1
2	lnc-THBS3-1	chr1:155180942-155181329	ENSG00000236263.1

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MTX1	hsa-miR-1	chr1:155183531-155183537

Variant related genes	Relation type
THBS3	TF binding region
MTX1	TF binding region
ENSG00000236263	TF binding region
THBS3	CpG island
MTX1	CpG island
ENSG00000236263	CpG island
ENSG00000116521	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000173171	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000236675	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000160752	chromatin interactions
ENSG00000169241	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138202522	chr1:155180138-155180139	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs561804824	chr1:155180169-155180170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs144334421	chr1:155180178-155180179	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs142201715	chr1:155180190-155180191	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs145946343	chr1:155180204-155180205	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs369744268	chr1:155180242-155180243	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs529284730	chr1:155180267-155180268	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs547740847	chr1:155180272-155180273	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs372514981	chr1:155180284-155180285	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs559830671	chr1:155180297-155180298	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs35865729	chr1:155180301-155180302	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs151320727	chr1:155180309-155180310	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs376675379	chr1:155180312-155180313	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs184621691	chr1:155180315-155180316	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs373988807	chr1:155180318-155180319	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs142052998	chr1:155180356-155180357	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs200633986	chr1:155180359-155180360	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs549920842	chr1:155180361-155180362	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs199905833	chr1:155180390-155180391	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs568135446	chr1:155180393-155180394	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs535135869	chr1:155180398-155180399	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs11539829	chr1:155180403-155180404	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs553710970	chr1:155180444-155180445	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs3738808	chr1:155180466-155180467	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs539714513	chr1:155180468-155180469	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs140639102	chr1:155180540-155180541	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs575841640	chr1:155180544-155180545	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs576677554	chr1:155180561-155180562	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs543179178	chr1:155180593-155180594	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs561868785	chr1:155180603-155180604	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs150486798	chr1:155180661-155180662	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs542465689	chr1:155180698-155180699	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs541107583	chr1:155180701-155180702	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs559697585	chr1:155180723-155180724	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs533129396	chr1:155180738-155180739	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs552115328	chr1:155180775-155180776	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs563939508	chr1:155180776-155180777	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs531152960	chr1:155180854-155180855	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs549580228	chr1:155180865-155180866	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs12065064	chr1:155180890-155180891	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs562043346	chr1:155180901-155180902	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs370119204	chr1:155180962-155180963	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
43	rs568192783	chr1:155180963-155180964	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
44	rs535522254	chr1:155180967-155180968	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
45	rs547122915	chr1:155180995-155180996	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs137874773	chr1:155181003-155181004	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs539022580	chr1:155181009-155181010	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs557644953	chr1:155181039-155181040	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs529683788	chr1:155181055-155181056	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs141961712	chr1:155181062-155181063	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155176600-155180200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:155179000-155181800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:155179200-155181600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:155179400-155180200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:155179400-155180200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:155179400-155180200	Enhancers	Spleen	Spleen
7	chr1:155179400-155180600	Flanking Active TSS	Dnd41	blood
8	chr1:155179600-155180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:155179600-155180200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:155179600-155180200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:155179600-155180200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:155179600-155180200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:155179600-155180200	Enhancers	Fetal Heart	heart
14	chr1:155179600-155180200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:155179600-155180200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:155179600-155180400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:155179600-155180400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:155179600-155180400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:155179600-155180400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:155179600-155180400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:155179600-155180400	Enhancers	Liver	Liver
22	chr1:155179600-155180600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:155179600-155180600	Flanking Active TSS	GM12878-XiMat	blood
24	chr1:155179600-155180800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:155179600-155181200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:155179600-155181400	Weak transcription	Right Ventricle	heart
27	chr1:155179600-155181400	Weak transcription	Thymus	Thymus
28	chr1:155179600-155181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:155179600-155181600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:155179600-155181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:155179600-155181800	Weak transcription	Placenta	Placenta
32	chr1:155179600-155181800	Weak transcription	Lung	lung
33	chr1:155179600-155181800	Weak transcription	Ovary	ovary
34	chr1:155179600-155182000	Weak transcription	Esophagus	oesophagus
35	chr1:155179600-155182000	Weak transcription	Left Ventricle	heart
36	chr1:155179600-155184400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:155179600-155184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:155179600-155184400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:155179600-155184600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:155179600-155184600	Weak transcription	Brain Anterior Caudate	brain
41	chr1:155179600-155184600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:155179600-155188200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
44	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
46	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
47	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
48	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
50	chr1:155179600-155196600	Weak transcription	Gastric	stomach

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