Variant report

Variant	esv3478169
Chromosome Location	chr7:38381805-38390633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:38389490-38389669	K562	blood:	n/a	n/a
2	BATF	chr7:38388801-38389033	GM12878	blood:	n/a	n/a
3	BATF	chr7:38389336-38389771	GM12878	blood:	n/a	n/a
4	BATF	chr7:38388739-38389137	GM12878	blood:	n/a	n/a
5	BATF	chr7:38384403-38384723	GM12878	blood:	n/a	n/a
6	BATF	chr7:38385112-38385446	GM12878	blood:	n/a	n/a
7	BATF	chr7:38384447-38384746	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:38384321-38384734	GM12878	blood:	n/a	chr7:38384540-38384549
9	BCLAF1	chr7:38385200-38385540	GM12878	blood:	n/a	n/a
10	BCLAF1	chr7:38389556-38389732	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:38389643-38389696	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:38385297-38385497	GM12878	blood:	n/a	n/a
13	BHLHE40	chr7:38385332-38385486	K562	blood:	n/a	n/a
14	CBX3	chr7:38389461-38389863	K562	blood:	n/a	n/a
15	CHD1	chr7:38389454-38389506	GM12878	blood:	n/a	n/a
16	CHD2	chr7:38385235-38385424	GM12878	blood:	n/a	n/a
17	CHD2	chr7:38381821-38382011	K562	blood:	n/a	n/a
18	CTCF	chr7:38385200-38385350	GM12864	blood:	n/a	n/a
19	CTCF	chr7:38389609-38389808	HUVEC	blood vessel:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
20	CTCF	chr7:38385320-38385470	HEEpiC	esophagus:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
21	CTCF	chr7:38385199-38385497	SK-N-SH_RA	brain:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
22	CTCF	chr7:38389573-38389829	Fibrobl	skin:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
23	CTCF	chr7:38385300-38385450	WERI-Rb-1	eye:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
24	CTCF	chr7:38385360-38385510	NHLF	lung:	n/a	n/a
25	CTCF	chr7:38385208-38385560	MCF-7	breast:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
26	CTCF	chr7:38385220-38385370	A549	lung:	n/a	n/a
27	CTCF	chr7:38385300-38385450	HUVEC	blood vessel:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
28	CTCF	chr7:38385220-38385370	GM12866	blood:	n/a	n/a
29	CTCF	chr7:38385019-38385641	K562	blood:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
30	CTCF	chr7:38389524-38389868	GM12878	blood:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
31	CTCF	chr7:38389940-38390090	GM12873	blood:	n/a	n/a
32	CTCF	chr7:38389493-38389872	K562	blood:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
33	CTCF	chr7:38389414-38389447	GM19239	blood:	n/a	n/a
34	CTCF	chr7:38389600-38389750	GM12865	blood:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
35	CTCF	chr7:38389940-38390090	GM12872	blood:	n/a	n/a
36	CTCF	chr7:38389600-38389750	HFF	foreskin:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
37	CTCF	chr7:38389560-38389710	GM12864	blood:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
38	CTCF	chr7:38385320-38385470	NHEK	skin:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
39	CTCF	chr7:38389570-38389844	ProgFib	skin:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
40	CTCF	chr7:38385320-38385470	HCM	heart:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
41	CTCF	chr7:38385300-38385450	HEEpiC	esophagus:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
42	CTCF	chr7:38385360-38385510	HCT-116	colon:	n/a	n/a
43	CTCF	chr7:38389431-38390041	K562	blood:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
44	CTCF	chr7:38385320-38385470	HRPEpiC	eye:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
45	CTCF	chr7:38385231-38385503	NHEK	skin:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
46	CTCF	chr7:38385220-38385370	BE2_C	brain:	n/a	n/a
47	CTCF	chr7:38385194-38385547	MCF-7	breast:	n/a	chr7:38385352-38385373 chr7:38385358-38385374 chr7:38385359-38385372 chr7:38385357-38385375 chr7:38385359-38385372
48	CTCF	chr7:38385380-38385530	HCM	heart:	n/a	n/a
49	CTCF	chr7:38389586-38389815	NHEK	skin:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700
50	CTCF	chr7:38389432-38389943	K562	blood:	n/a	chr7:38389677-38389698 chr7:38389683-38389699 chr7:38389684-38389697 chr7:38389682-38389700

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38389685-38389735	LNCaP	prostate:	n/a
2	chr7:38389659-38389709	HCF	heart:	n/a
3	chr7:38389991-38390041	Hela-S3	cervix:	n/a
4	chr7:38389659-38389709	Hela-S3	cervix:	n/a
5	chr7:38389659-38389709	NT2-D1	testis:	n/a
6	chr7:38389659-38389709	Jurkat	blood:	n/a
7	chr7:38389685-38389735	HEK293	kidney:	embryo
8	chr7:38389659-38389709	HL-60	blood:	n/a
9	chr7:38389991-38390041	SK-N-SH	brain:	n/a
10	chr7:38389991-38390041	MCF-7	breast:	n/a
11	chr7:38389659-38389709	HCPEpiC	choroid plexus:	n/a
12	chr7:38389659-38389709	NHBE	bronchial:	n/a
13	chr7:38389685-38389735	BE2_C	brain:	n/a
14	chr7:38389659-38389709	PrEC	prostate:	n/a
15	chr7:38389659-38389709	AG04450	lung:	fetal
16	chr7:38389659-38389709	ProgFib	skin:	n/a
17	chr7:38389685-38389735	A549	lung:	n/a
18	chr7:38389659-38389709	AG09319	gingival:	n/a
19	chr7:38389685-38389735	HepG2	liver:	n/a
20	chr7:38389659-38389709	HNPCEpiC	eye:	n/a
21	chr7:38389991-38390041	HUVEC	blood vessel:	n/a
22	chr7:38389659-38389709	BE2_C	brain:	n/a
23	chr7:38389991-38390041	SAEC	small airway:	n/a
24	chr7:38389685-38389735	HRPEpiC	eye:	n/a
25	chr7:38389685-38389735	PANC-1	pancreas:	n/a
26	chr7:38389991-38390041	PFSK-1	brain:	n/a
27	chr7:38389685-38389735	NT2-D1	testis:	n/a
28	chr7:38389685-38389735	Hepatocyte	liver:	n/a
29	chr7:38389685-38389735	GM19239	blood:	n/a
30	chr7:38389991-38390041	CMK	blood:	n/a
31	chr7:38389659-38389709	H1-hESC	embryonic stem cell:	embryo
32	chr7:38389991-38390041	ProgFib	skin:	n/a
33	chr7:38389991-38390041	HRPEpiC	eye:	n/a
34	chr7:38389685-38389735	H1-hESC	embryonic stem cell:	embryo
35	chr7:38389685-38389735	ECC-1	luminal epithelium:	n/a
36	chr7:38389659-38389709	NHDF-neo	bronchial:	n/a
37	chr7:38389685-38389735	HCF	heart:	n/a
38	chr7:38389991-38390041	HCF	heart:	n/a
39	chr7:38389685-38389735	MCF10A-Er-Src	breast:	n/a
40	chr7:38389991-38390041	HCPEpiC	choroid plexus:	n/a
41	chr7:38389685-38389735	T-47D	breast:	n/a
42	chr7:38389659-38389709	SKMC	muscle:	n/a
43	chr7:38389991-38390041	AG09309	skin:	n/a
44	chr7:38389991-38390041	NHBE	bronchial:	n/a
45	chr7:38389991-38390041	K562	blood:	n/a
46	chr7:38389685-38389735	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:38389685-38389735	SKMC	muscle:	n/a
48	chr7:38389659-38389709	HAEpiC	amniotic membrane:	n/a
49	chr7:38389685-38389735	ProgFib	skin:	n/a
50	chr7:38389685-38389735	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:38379860..38381671-chr7:38382000..38383618,2	K562	blood:
2	chr7:38378957..38381571-chr7:38387227..38389473,2	K562	blood:
3	chr7:38383736..38385810-chr7:38388077..38391054,2	MCF-7	breast:
4	chr7:38146965..38147587-chr7:38385316..38385987,2	MCF-7	breast:
5	chr7:38372590..38377698-chr7:38377994..38383669,12	K562	blood:
6	chr7:38369534..38372460-chr7:38378778..38381886,3	K562	blood:
7	chr7:38380741..38382401-chr7:38383649..38386131,2	K562	blood:
8	chr7:38268103..38269784-chr7:38382757..38385051,2	K562	blood:
9	chr7:38383736..38385810-chr7:38388077..38391054,2	MCF-7	breast:
10	chr7:38385094..38385817-chr7:38407469..38408173,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STARD3NL-1	chr7:38385622-38385728	ENSG00000250924
2	lnc-STARD3NL-1	chr7:38389947-38390051	NONHSAT120179
3	lnc-STARD3NL-1	chr7:38389947-38390051	ENSG00000250924
4	lnc-STARD3NL-1	chr7:38385622-38385728	NONHSAT120179
5	lnc-STARD3NL-1	chr7:38381747-38382154	NONHSAT120178
6	lnc-STARD3NL-1	chr7:38381683-38384763	ucscGeneNc_uc003tgp_1

Variant related genes	Relation type
TRGV5	TF binding region
TRGV6	TF binding region
TRGV5P	TF binding region
TRGV5	CpG island
TRGV6	CpG island
TRGV5P	CpG island
ENSG00000249978	chromatin interactions
ENSG00000211697	chromatin interactions
ENSG00000228668	chromatin interactions
ENSG00000211696	chromatin interactions
ENSG00000226212	chromatin interactions
ENSG00000211701	chromatin interactions
RAB5A	miRNA target sites
SERTAD3	miRNA target sites

Extended variants
information (count: 645 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145154823	chr7:38381809-38381810	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs532932620	chr7:38381817-38381818	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs548803944	chr7:38381822-38381823	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs377747885	chr7:38381837-38381838	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs185150907	chr7:38381851-38381852	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs371604402	chr7:38381886-38381887	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs190080363	chr7:38381903-38381904	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs376955596	chr7:38381916-38381917	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs181104866	chr7:38381917-38381918	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs77921861	chr7:38381949-38381950	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs367857685	chr7:38381954-38381955	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs2735146	chr7:38381957-38381958	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565653292	chr7:38381960-38381961	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs534494010	chr7:38381963-38381964	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs557694710	chr7:38381965-38381966	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs570919774	chr7:38381967-38381968	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs2735145	chr7:38381972-38381973	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74658303	chr7:38381994-38381995	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs576309626	chr7:38381995-38381996	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs542262471	chr7:38382001-38382002	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs73357254	chr7:38382008-38382009	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs112294232	chr7:38382017-38382018	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs556082098	chr7:38382033-38382034	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs371161295	chr7:38382058-38382059	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs143766787	chr7:38382064-38382065	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs541642610	chr7:38382065-38382066	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs60895540	chr7:38382074-38382075	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184023469	chr7:38382112-38382113	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs371041825	chr7:38382132-38382133	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs66504815	chr7:38382133-38382134	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs397744499	chr7:38382135-38382136	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs533582709	chr7:38382144-38382145	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs61070425	chr7:38382155-38382156	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs141691695	chr7:38382166-38382167	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs528823881	chr7:38382182-38382183	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs188707276	chr7:38382189-38382190	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs180762420	chr7:38382232-38382233	Weak transcription Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs573151999	chr7:38382234-38382235	Weak transcription Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs551542228	chr7:38382256-38382257	Weak transcription Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs35574637	chr7:38382308-38382309	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs113688867	chr7:38382333-38382334	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs111309640	chr7:38382340-38382341	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs386712320	chr7:38382354-38382355	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs2975077	chr7:38382362-38382363	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs367985184	chr7:38382390-38382391	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs537251399	chr7:38382414-38382415	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs562101193	chr7:38382431-38382432	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs2975076	chr7:38382462-38382463	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112582934	chr7:38382473-38382474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs570200667	chr7:38382480-38382481	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38379600-38382000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:38379800-38382000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:38379800-38382000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr7:38379800-38382000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:38379800-38382000	Enhancers	Fetal Intestine Large	intestine
6	chr7:38379800-38382000	Enhancers	Fetal Intestine Small	intestine
7	chr7:38379800-38382000	Enhancers	Placenta	Placenta
8	chr7:38379800-38382200	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:38380000-38382000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:38380000-38382000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr7:38380000-38382000	Enhancers	Pancreas	Pancrea
12	chr7:38380000-38382200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:38380200-38382000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:38380400-38382000	Enhancers	GM12878-XiMat	blood
15	chr7:38380800-38382000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr7:38380800-38382000	Flanking Active TSS	Fetal Thymus	thymus
17	chr7:38380800-38382600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:38381000-38382000	Enhancers	Dnd41	blood
19	chr7:38381000-38383800	Active TSS	K562	blood
20	chr7:38381200-38382000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr7:38381200-38382200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:38381200-38384200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:38381200-38384600	Weak transcription	Spleen	Spleen
24	chr7:38381200-38389200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:38381400-38384200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:38381400-38384800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:38381400-38385000	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:38381400-38385400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:38381400-38385600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:38381400-38389200	Weak transcription	Fetal Stomach	stomach
31	chr7:38381400-38408000	Weak transcription	Right Atrium	heart
32	chr7:38381600-38382000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr7:38381600-38382000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:38381600-38384200	Weak transcription	Primary B cells from cord blood	blood
35	chr7:38381600-38384800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:38381800-38382000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr7:38381800-38382000	Flanking Active TSS	Thymus	Thymus
38	chr7:38381800-38384000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:38381800-38384200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:38381800-38388800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:38382000-38382200	Active TSS	Primary T cells from cord blood	blood
42	chr7:38382000-38382200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:38382000-38383200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:38382000-38383600	Active TSS	Primary T cells fromperipheralblood	blood
45	chr7:38382000-38383600	Weak transcription	Dnd41	blood
46	chr7:38382000-38383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:38382000-38384200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:38382000-38384200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:38382000-38384200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:38382000-38384200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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