Variant report

Variant	nsv534855
Chromosome Location	chr1:9972921-10038862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1814)
CpG islands
(count:1220)
Chromatin interactive
region (count:93)
LncRNA
region (count:5)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1814 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:9974263-9974911	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:10003377-10003704	K562	blood:	n/a	n/a
3	ARID3A	chr1:10010411-10010661	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:9989523-9990446	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:9989033-9989889	K562	blood:	n/a	n/a
6	ARID3A	chr1:10003106-10003730	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:10002423-10002764	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:9994301-9994619	HepG2	liver:	n/a	n/a
9	ATF1	chr1:10002445-10003796	K562	blood:	n/a	n/a
10	ATF2	chr1:10010280-10010805	GM12878	blood:	n/a	n/a
11	ATF2	chr1:10002931-10003728	GM12878	blood:	n/a	n/a
12	ATF2	chr1:10003057-10003921	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:10003018-10003991	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr1:10002341-10003870	GM12878	blood:	n/a	n/a
15	ATF2	chr1:10010361-10010894	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr1:10003242-10003747	A549	lung:	n/a	n/a
17	ATF3	chr1:10003188-10003717	A549	lung:	n/a	n/a
18	BACH1	chr1:10003265-10003754	K562	blood:	n/a	n/a
19	BACH1	chr1:10003124-10003578	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr1:10035180-10035352	GM12878	blood:	n/a	chr1:10035288-10035299
21	BATF	chr1:10003180-10003645	GM12878	blood:	n/a	n/a
22	BCL11A	chr1:10003257-10003623	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003341-10003350 chr1:10003462-10003471
23	BCL3	chr1:10003147-10003747	A549	lung:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
24	BCL3	chr1:10003051-10003824	A549	lung:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
25	BCL3	chr1:10003047-10003713	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
26	BCLAF1	chr1:10010336-10010794	GM12878	blood:	n/a	n/a
27	BCLAF1	chr1:10002854-10003741	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
28	BCLAF1	chr1:10002907-10003758	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
29	BCLAF1	chr1:10003119-10003868	K562	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
30	BCLAF1	chr1:10002340-10002838	GM12878	blood:	n/a	chr1:10002654-10002663
31	BCLAF1	chr1:10003062-10003870	K562	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
32	BHLHE40	chr1:10010423-10010844	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:10003083-10003657	GM12878	blood:	n/a	n/a
34	BHLHE40	chr1:10010431-10010710	K562	blood:	n/a	n/a
35	BHLHE40	chr1:9996970-9997179	GM12878	blood:	n/a	n/a
36	BHLHE40	chr1:9989478-9989762	HepG2	liver:	n/a	n/a
37	BHLHE40	chr1:10002400-10003702	K562	blood:	n/a	n/a
38	BHLHE40	chr1:9989429-9989911	K562	blood:	n/a	n/a
39	BHLHE40	chr1:9974156-9974813	HepG2	liver:	n/a	n/a
40	BHLHE40	chr1:10002402-10002875	GM12878	blood:	n/a	n/a
41	BRCA1	chr1:10002505-10003713	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr1:10002976-10003614	GM12878	blood:	n/a	n/a
43	BRCA1	chr1:10002534-10003807	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr1:10010471-10010695	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr1:10010447-10010797	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr1:10002990-10003670	HepG2	liver:	n/a	n/a
47	CBX3	chr1:10002304-10003822	K562	blood:	n/a	n/a
48	CBX3	chr1:9989384-9989836	K562	blood:	n/a	n/a
49	CBX3	chr1:10003248-10003759	K562	blood:	n/a	n/a
50	CCNT2	chr1:10003169-10003679	K562	blood:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10001911-10001961	SK-N-SH	brain:	n/a
2	chr1:10002969-10003019	GM12878	blood:	n/a
3	chr1:9982553-9982603	HCM	heart:	n/a
4	chr1:10003752-10003802	SK-N-MC	brain:	n/a
5	chr1:10003340-10003390	LNCaP	prostate:	n/a
6	chr1:10003059-10003109	MCF10A-Er-Src	breast:	n/a
7	chr1:10011232-10011282	NHDF-neo	bronchial:	n/a
8	chr1:10002719-10002769	AG04449	skin:	fetal
9	chr1:10020901-10020951	GM12891	blood:	n/a
10	chr1:10003173-10003223	A549	lung:	n/a
11	chr1:10002969-10003019	HRCEpiC	kidney:	n/a
12	chr1:10010658-10010708	SK-N-SH	brain:	n/a
13	chr1:9973750-9973800	Hela-S3	cervix:	n/a
14	chr1:10003340-10003390	U87	brain:	n/a
15	chr1:10002828-10002878	T-47D	breast:	n/a
16	chr1:10011232-10011282	IMR90	lung:	fetal
17	chr1:9973750-9973800	AG04450	lung:	fetal
18	chr1:10003460-10003510	AG09319	gingival:	n/a
19	chr1:10003340-10003390	NT2-D1	testis:	n/a
20	chr1:10010658-10010708	AG09319	gingival:	n/a
21	chr1:10003173-10003223	ovcar-3	ovarian:	n/a
22	chr1:10003059-10003109	HIPEpiC	eye:	n/a
23	chr1:10002719-10002769	NB4	blood:	n/a
24	chr1:10003173-10003223	U87	brain:	n/a
25	chr1:10020901-10020951	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:10002969-10003019	U87	brain:	n/a
27	chr1:9999765-9999815	Hepatocyte	liver:	n/a
28	chr1:9992130-9992180	ProgFib	skin:	n/a
29	chr1:10003298-10003348	PANC-1	pancreas:	n/a
30	chr1:10003460-10003510	CMK	blood:	n/a
31	chr1:9999765-9999815	HCT-116	colon:	n/a
32	chr1:10003059-10003109	SK-N-SH_RA	brain:	n/a
33	chr1:10003460-10003510	AG04450	lung:	fetal
34	chr1:10002719-10002769	MCF-7	breast:	n/a
35	chr1:10002719-10002769	SK-N-SH_RA	brain:	n/a
36	chr1:10020901-10020951	HEK293	kidney:	embryo
37	chr1:10002719-10002769	SKMC	muscle:	n/a
38	chr1:10001911-10001961	ovcar-3	ovarian:	n/a
39	chr1:10003340-10003390	AG04450	lung:	fetal
40	chr1:10003059-10003109	HEEpiC	esophagus:	n/a
41	chr1:9982553-9982603	U87	brain:	n/a
42	chr1:10002969-10003019	SK-N-MC	brain:	n/a
43	chr1:10003572-10003622	GM12892	blood:	n/a
44	chr1:10002969-10003019	AG04450	lung:	fetal
45	chr1:10003430-10003480	AG09319	gingival:	n/a
46	chr1:9999765-9999815	Jurkat	blood:	n/a
47	chr1:10001911-10001961	HEEpiC	esophagus:	n/a
48	chr1:9992130-9992180	ECC-1	luminal epithelium:	n/a
49	chr1:10020901-10020951	HNPCEpiC	eye:	n/a
50	chr1:10010658-10010708	NH-A	brain:	n/a

(count:93 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:9988737..9991346-chr1:10009208..10011504,2	K562	blood:
2	chr1:10003032..10004962-chr1:10118663..10120416,2	MCF-7	breast:
3	chr1:9970332..9972521-chr1:9989080..9990638,2	K562	blood:
4	chr1:9969032..9972214-chr1:9991997..9995260,4	K562	blood:
5	chr1:9946281..9947867-chr1:10004858..10007220,2	K562	blood:
6	chr1:9969076..9970759-chr1:9993245..9994949,2	K562	blood:
7	chr1:10008573..10013502-chr1:10090291..10096219,9	MCF-7	breast:
8	chr1:9934997..9935652-chr1:9974260..9975149,2	K562	blood:
9	chr1:9970359..9972833-chr1:9979234..9983583,5	K562	blood:
10	chr1:10001983..10003489-chr1:10020607..10022656,2	K562	blood:
11	chr1:10003043..10003645-chr8:118532895..118533881,2	Hela-S3	cervix:
12	chr1:9948461..9950463-chr1:9972142..9973829,2	K562	blood:
13	chr1:9992820..9997928-chr1:9999758..10004449,8	K562	blood:
14	chr1:10002273..10004549-chr1:10490535..10492203,2	MCF-7	breast:
15	chr1:10006856..10008883-chr1:10008961..10010620,2	K562	blood:
16	chr1:9970332..9972521-chr1:9987991..9990638,3	K562	blood:
17	chr1:9979666..9982180-chr1:9989888..9991989,2	K562	blood:
18	chr1:9969022..9974825-chr1:10002123..10006220,12	K562	blood:
19	chr1:10036550..10039108-chr1:10039716..10041886,2	MCF-7	breast:
20	chr1:9968043..9973723-chr1:10001891..10008599,10	K562	blood:
21	chr1:10009468..10012009-chr1:10018654..10021337,2	MCF-7	breast:
22	chr1:9934948..9935494-chr1:9974131..9974751,2	MCF-7	breast:
23	chr1:10002308..10002961-chr1:10092373..10092897,2	MCF-7	breast:
24	chr1:10001294..10005828-chr1:10093316..10096471,4	K562	blood:
25	chr1:9991529..9996345-chr1:10001160..10004231,6	K562	blood:
26	chr1:9923513..9926464-chr1:9996887..9999846,2	K562	blood:
27	chr1:9598357..9600468-chr1:9996244..9998759,2	K562	blood:
28	chr1:9982335..9985252-chr1:10003262..10005012,2	K562	blood:
29	chr1:10003080..10004710-chr1:10011866..10014471,2	K562	blood:
30	chr1:10002901..10003432-chr12:498459..499050,2	Hela-S3	cervix:
31	chr1:10010111..10010962-chr1:10092219..10093003,3	MCF-7	breast:
32	chr1:9970314..9973220-chr1:10093612..10095585,2	K562	blood:
33	chr1:9950543..9952376-chr1:9989570..9991778,2	K562	blood:
34	chr1:9983752..9986427-chr1:10003479..10005012,2	K562	blood:
35	chr1:10002756..10003923-chr1:10092230..10093198,5	K562	blood:
36	chr1:10009468..10012009-chr1:10018654..10021337,2	MCF-7	breast:
37	chr1:10002980..10003568-chr19:3984706..3985527,2	Hela-S3	cervix:
38	chr1:9935001..9935634-chr1:9989098..9989618,2	K562	blood:
39	chr1:10011196..10014061-chr1:10093546..10095391,2	MCF-7	breast:
40	chr1:10002778..10003716-chr6:44214630..44215373,2	Hela-S3	cervix:
41	chr1:9971162..9973726-chr1:9979028..9981341,2	MCF-7	breast:
42	chr1:10003040..10006245-chr1:10014502..10017317,3	K562	blood:
43	chr1:10002125..10006916-chr1:10090169..10095056,10	K562	blood:
44	chr1:9969022..9974825-chr1:10002123..10006220,12	K562	blood:
45	chr1:10024324..10025838-chr1:10028359..10030205,2	K562	blood:
46	chr1:9979666..9982180-chr1:9989888..9991989,2	K562	blood:
47	chr1:9937606..9938358-chr1:9974492..9975167,2	MCF-7	breast:
48	chr1:10003059..10003915-chr14:61189613..61190275,2	Hela-S3	cervix:
49	chr1:10003460..10004037-chr10:71992754..71993389,2	NB4	blood:
50	chr1:10010235..10011004-chr1:10092319..10093175,4	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMNAT1-1	chr1:10009696-10010032	ENSG00000228150.1
2	lnc-NMNAT1-1	chr1:10002981-10003083	ENSG00000228150.1
3	lnc-CTNNBIP1-1	chr1:9986451-9987467	NONHSAT000825
4	lnc-RBP7-3	chr1:10007376-10007694	NONHSAT000831
5	lnc-RBP7-2	chr1:10026764-10027014	NONHSAT000832

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5697	chr1:10027448-10027469	MIMAT0022490

No data

Variant related genes	Relation type
RN7SKP269	TF binding region
NMNAT1	TF binding region
ENSG00000228150	TF binding region
CTNNBIP1	TF binding region
ENSG00000241326	TF binding region
LZIC	TF binding region
MIR5697	TF binding region
RN7SKP269	CpG island
NMNAT1	CpG island
ENSG00000228150	CpG island
CTNNBIP1	CpG island
ENSG00000241326	CpG island
LZIC	CpG island
MIR5697	CpG island
ENSG00000251503	chromatin interactions
ENSG00000271989	chromatin interactions
ENSG00000100625	chromatin interactions
ENSG00000233623	chromatin interactions
ENSG00000065135	chromatin interactions
ENSG00000073614	chromatin interactions
ENSG00000173614	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000205913	chromatin interactions
ENSG00000255513	chromatin interactions
ENSG00000228150	chromatin interactions
ENSG00000167978	chromatin interactions
ENSG00000171603	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000171612	chromatin interactions
ENSG00000164758	chromatin interactions
ENSG00000165516	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000169398	chromatin interactions
ENSG00000180817	chromatin interactions
ENSG00000178585	chromatin interactions
ENSG00000142657	chromatin interactions
ENSG00000202415	chromatin interactions
ENSG00000130939	chromatin interactions
ENSG00000162441	chromatin interactions
ENSG00000175279	chromatin interactions
ENSG00000167658	chromatin interactions

Extended variants
information (count: 2410 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:2410 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542292524	chr1:9972948-9972949	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs144313173	chr1:9973022-9973023	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs376451110	chr1:9973042-9973043	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs546776892	chr1:9973080-9973081	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs560568183	chr1:9973106-9973107	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs528112337	chr1:9973130-9973131	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs367692277	chr1:9973179-9973180	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs561144464	chr1:9973213-9973214	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs566884882	chr1:9973221-9973222	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs546557229	chr1:9973251-9973252	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs531684036	chr1:9973281-9973282	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs549989922	chr1:9973285-9973286	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs371622871	chr1:9973313-9973314	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs192166172	chr1:9973316-9973317	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs534392067	chr1:9973337-9973338	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs532230353	chr1:9973347-9973348	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs148772594	chr1:9973351-9973352	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs555731231	chr1:9973364-9973365	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs113658914	chr1:9973373-9973374	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs376296840	chr1:9973386-9973387	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs368596390	chr1:9973424-9973425	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs377298551	chr1:9973436-9973437	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs144865538	chr1:9973449-9973450	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs185694190	chr1:9973527-9973528	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs190252532	chr1:9973596-9973597	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs147377608	chr1:9973598-9973599	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs538111366	chr1:9973679-9973680	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs556440282	chr1:9973730-9973731	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs114624906	chr1:9973748-9973749	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs72858073	chr1:9973776-9973777	Weak transcription Enhancers Flanking Active TSS	CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139585875	chr1:9973783-9973784	Weak transcription Enhancers Flanking Active TSS	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs145009083	chr1:9973798-9973799	Weak transcription Enhancers Flanking Active TSS	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs544512379	chr1:9973802-9973803	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113449139	chr1:9973805-9973806	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs182326508	chr1:9973816-9973817	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs372486260	chr1:9973852-9973853	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs186202141	chr1:9973871-9973872	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs576111565	chr1:9973896-9973897	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs1220388	chr1:9973928-9973929	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565193738	chr1:9973934-9973935	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs116431908	chr1:9973938-9973939	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs540899167	chr1:9973943-9973944	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs555705142	chr1:9973965-9973966	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs113132854	chr1:9973966-9973967	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs59602018	chr1:9973979-9973980	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs560634925	chr1:9974087-9974088	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs527824753	chr1:9974103-9974104	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs549077017	chr1:9974107-9974108	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs567273534	chr1:9974161-9974162	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs571301993	chr1:9974197-9974198	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Neuroblastoma	19638189	CNVD
Cancer	20164919	CNVD

Chromatin state (count:1906 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9971200-9981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:9971400-9973000	Enhancers	Fetal Intestine Small	intestine
3	chr1:9971400-9973000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:9971400-9973000	Enhancers	Stomach Mucosa	stomach
5	chr1:9971400-9974200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:9971400-9974400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:9971400-9974400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:9971400-9975200	Enhancers	Fetal Intestine Large	intestine
9	chr1:9971400-9976400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:9971400-9976600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:9971400-9982600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:9971400-9987400	Weak transcription	Fetal Stomach	stomach
13	chr1:9971400-9993600	Weak transcription	Aorta	Aorta
14	chr1:9971400-10002000	Weak transcription	Small Intestine	intestine
15	chr1:9971600-9973000	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:9971600-9973600	Enhancers	HepG2	liver
17	chr1:9971600-9974400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:9971600-9974400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:9971600-9974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:9971600-9974400	Weak transcription	Liver	Liver
21	chr1:9971600-9974800	Enhancers	K562	blood
22	chr1:9971600-9976800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:9971600-9980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:9971600-9988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:9971600-9991200	Weak transcription	NHEK	skin
26	chr1:9971800-9985600	Weak transcription	Primary T cells from cord blood	blood
27	chr1:9971800-9986600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:9971800-9987000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:9971800-9987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:9971800-9989000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:9971800-9991800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:9972000-9973000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:9972400-9973200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:9972600-9974200	Weak transcription	Fetal Heart	heart
35	chr1:9972600-9977600	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:9972600-9982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:9972600-9988000	Weak transcription	Lung	lung
38	chr1:9972600-9988600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:9972600-10002200	Weak transcription	Right Atrium	heart
40	chr1:9972800-9974600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:9972800-9974600	Weak transcription	Fetal Lung	lung
42	chr1:9972800-9977200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:9972800-9989600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:9973000-9974200	Weak transcription	Fetal Intestine Small	intestine
45	chr1:9973000-9974200	Weak transcription	Stomach Mucosa	stomach
46	chr1:9973000-9988400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:9973600-9973800	Flanking Active TSS	HepG2	liver
48	chr1:9973800-9974200	Enhancers	HepG2	liver
49	chr1:9974200-9974600	Enhancers	Fetal Heart	heart
50	chr1:9974200-9975200	Enhancers	Stomach Mucosa	stomach

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