Variant report

Variant	nsv5887
Chromosome Location	chr7:104401250-104491604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:540)
CpG islands
(count:427)
Chromatin interactive
region (count:44)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:104488947-104489091	K562	blood:	n/a	n/a
2	ARID3A	chr7:104488902-104489102	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:104482307-104482460	K562	blood:	n/a	n/a
4	ATF1	chr7:104482256-104482566	K562	blood:	n/a	n/a
5	ATF2	chr7:104412705-104413324	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:104412806-104413332	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:104412765-104413374	H1-hESC	embryonic stem cell:	n/a	chr7:104413256-104413270
8	BACH1	chr7:104448236-104448258	K562	blood:	n/a	n/a
9	BCL11A	chr7:104412851-104413116	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr7:104412839-104413127	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr7:104488905-104489211	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:104488971-104489090	K562	blood:	n/a	n/a
13	BRCA1	chr7:104488966-104489173	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr7:104483818-104484022	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr7:104433614-104433830	A549	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
16	CEBPB	chr7:104479052-104479240	K562	blood:	n/a	n/a
17	CEBPB	chr7:104483828-104484013	HepG2	liver:	n/a	n/a
18	CEBPB	chr7:104433532-104433845	IMR90	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
19	CEBPB	chr7:104433540-104433841	HepG2	liver:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
20	CEBPB	chr7:104433576-104433893	A549	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
21	CEBPB	chr7:104433566-104433846	K562	blood:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
22	CEBPB	chr7:104433473-104433846	MCF-7	breast:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
23	CHD1	chr7:104489022-104489096	GM12878	blood:	n/a	n/a
24	CHD2	chr7:104412777-104413428	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr7:104412793-104413342	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr7:104412648-104413476	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTBP2	chr7:104412772-104413767	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:104488864-104489196	Gliobla	brain:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
29	CTCF	chr7:104488716-104488794	K562	blood:	n/a	n/a
30	CTCF	chr7:104488883-104489178	ProgFib	skin:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
31	CTCF	chr7:104488789-104489167	K562	blood:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
32	CTCF	chr7:104488936-104489089	T-47D	breast:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
33	CTCF	chr7:104488920-104489160	GM13976	blood:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
34	CTCF	chr7:104488960-104489110	MCF-7	breast:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
35	CTCF	chr7:104488861-104489186	GM12878	blood:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
36	CTCF	chr7:104488694-104488801	GM12892	blood:	n/a	n/a
37	CTCF	chr7:104489293-104489393	GM10248	blood:	n/a	n/a
38	CTCF	chr7:104488897-104489188	GM10266	blood:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
39	CTCF	chr7:104488916-104489162	MCF-7	breast:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
40	CTCF	chr7:104488798-104489237	K562	blood:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
41	CTCF	chr7:104483800-104483950	NHEK	skin:	n/a	n/a
42	CTCF	chr7:104408660-104408810	HMEC	breast:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
43	CTCF	chr7:104488820-104488970	NHEK	skin:	n/a	n/a
44	CTCF	chr7:104488960-104489110	GM12868	blood:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
45	CTCF	chr7:104412820-104412970	Caco-2	colon:	n/a	n/a
46	CTCF	chr7:104488940-104489090	NHEK	skin:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041
47	CTCF	chr7:104483780-104483930	HCFaa	heart:	n/a	n/a
48	CTCF	chr7:104488520-104488670	WI-38	lung:	n/a	n/a
49	CTCF	chr7:104483700-104483850	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr7:104488918-104489168	NHEK	skin:	n/a	chr7:104489025-104489043 chr7:104489052-104489060 chr7:104489030-104489038 chr7:104489020-104489041

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:104445402-104445452	NHDF-neo	bronchial:	n/a
2	chr7:104445402-104445452	HCF	heart:	n/a
3	chr7:104459130-104459180	HNPCEpiC	eye:	n/a
4	chr7:104445585-104445635	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:104460407-104460457	NH-A	brain:	n/a
6	chr7:104413036-104413086	NH-A	brain:	n/a
7	chr7:104460407-104460457	AG04449	skin:	fetal
8	chr7:104460407-104460457	Hela-S3	cervix:	n/a
9	chr7:104459130-104459180	AG09309	skin:	n/a
10	chr7:104445585-104445635	MCF10A-Er-Src	breast:	n/a
11	chr7:104460407-104460457	HIPEpiC	eye:	n/a
12	chr7:104444687-104444737	A549	lung:	n/a
13	chr7:104445402-104445452	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:104460407-104460457	HRCEpiC	kidney:	n/a
15	chr7:104444707-104444757	RPTEC	kidney:	n/a
16	chr7:104444707-104444757	ECC-1	luminal epithelium:	n/a
17	chr7:104444687-104444737	AoSMC	blood vessel:	n/a
18	chr7:104445402-104445452	HEEpiC	esophagus:	n/a
19	chr7:104444687-104444737	K562	blood:	n/a
20	chr7:104413036-104413086	SK-N-SH_RA	brain:	n/a
21	chr7:104413036-104413086	AG09309	skin:	n/a
22	chr7:104459130-104459180	AG10803	skin:	n/a
23	chr7:104459130-104459180	GM12891	blood:	n/a
24	chr7:104445402-104445452	AG09319	gingival:	n/a
25	chr7:104460407-104460457	HepG2	liver:	n/a
26	chr7:104445585-104445635	HUVEC	blood vessel:	n/a
27	chr7:104445402-104445452	HAEpiC	amniotic membrane:	n/a
28	chr7:104444707-104444757	LNCaP	prostate:	n/a
29	chr7:104444687-104444737	HCT-116	colon:	n/a
30	chr7:104459130-104459180	AG09319	gingival:	n/a
31	chr7:104459130-104459180	HL-60	blood:	n/a
32	chr7:104460407-104460457	NHDF-neo	bronchial:	n/a
33	chr7:104444687-104444737	CMK	blood:	n/a
34	chr7:104444707-104444757	HNPCEpiC	eye:	n/a
35	chr7:104459130-104459180	NHBE	bronchial:	n/a
36	chr7:104460407-104460457	Caco-2	colon:	n/a
37	chr7:104444687-104444737	HepG2	liver:	n/a
38	chr7:104460407-104460457	HUVEC	blood vessel:	n/a
39	chr7:104444687-104444737	AG10803	skin:	n/a
40	chr7:104445585-104445635	Jurkat	blood:	n/a
41	chr7:104413036-104413086	GM12878	blood:	n/a
42	chr7:104459130-104459180	HCPEpiC	choroid plexus:	n/a
43	chr7:104459130-104459180	HCM	heart:	n/a
44	chr7:104445585-104445635	HEEpiC	esophagus:	n/a
45	chr7:104444707-104444757	PrEC	prostate:	n/a
46	chr7:104413036-104413086	BE2_C	brain:	n/a
47	chr7:104445585-104445635	SK-N-MC	brain:	n/a
48	chr7:104413036-104413086	NHDF-neo	bronchial:	n/a
49	chr7:104460407-104460457	AG10803	skin:	n/a
50	chr7:104460407-104460457	H1-hESC	embryonic stem cell:	embryo

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104283733..104284709-chr7:104488645..104489537,4	MCF-7	breast:
2	chr7:103848353..103851254-chr7:104459006..104460903,2	K562	blood:
3	chr7:104283185..104284990-chr7:104488377..104489969,20	MCF-7	breast:
4	chr7:104443017..104446705-chr7:104447012..104450843,4	K562	blood:
5	chr7:104419886..104422032-chr7:104422359..104424194,2	K562	blood:
6	chr7:104419886..104422032-chr7:104422359..104424194,2	K562	blood:
7	chr7:104408013..104410317-chr7:104422818..104425471,2	K562	blood:
8	chr7:104409406..104411368-chr7:104413418..104415967,2	K562	blood:
9	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:
10	chr7:104423057..104424601-chr7:104428990..104431789,2	MCF-7	breast:
11	chr7:104302642..104305367-chr7:104448713..104450769,2	K562	blood:
12	chr7:104438743..104441735-chr7:104443965..104445982,2	K562	blood:
13	chr7:104414380..104416720-chr7:104418892..104421394,2	K562	blood:
14	chr7:103981713..103982644-chr7:104488433..104489374,3	MCF-7	breast:
15	chr7:104421671..104423208-chr7:104427462..104429131,2	K562	blood:
16	chr7:104432454..104433087-chrX:39058476..39059438,2	MCF-7	breast:
17	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
18	chr7:104412687..104414288-chr7:104414612..104417316,2	K562	blood:
19	chr7:104435065..104439363-chr7:104442614..104444965,4	K562	blood:
20	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:
21	chr7:104453530..104456071-chr7:104485897..104488742,2	K562	blood:
22	chr7:104423057..104424601-chr7:104428990..104431789,2	MCF-7	breast:
23	chr7:104345772..104348271-chr7:104471773..104473637,2	MCF-7	breast:
24	chr7:104412687..104414288-chr7:104414612..104417316,2	K562	blood:
25	chr7:104427635..104430340-chr7:104433804..104436120,2	K562	blood:
26	chr7:104421671..104423208-chr7:104427462..104429131,2	K562	blood:
27	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
28	chr7:104189213..104191693-chr7:104438258..104440897,2	K562	blood:
29	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
30	chr7:104408013..104410317-chr7:104422818..104425471,2	K562	blood:
31	chr7:104453530..104456071-chr7:104485897..104488742,2	K562	blood:
32	chr7:104403971..104406654-chr7:104407039..104409693,2	K562	blood:
33	chr7:104414380..104416720-chr7:104418892..104421394,2	K562	blood:
34	chr7:103847059..103849462-chr7:104487557..104490090,2	MCF-7	breast:
35	chr7:104435065..104437773-chr7:104442766..104444672,2	K562	blood:
36	chr7:104283773..104284933-chr7:104488512..104489489,9	K562	blood:
37	chr7:104415740..104417803-chr7:104432798..104435671,2	K562	blood:
38	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
39	chr7:104409406..104411368-chr7:104413418..104415967,2	K562	blood:
40	chr7:104403971..104406654-chr7:104407039..104409693,2	K562	blood:
41	chr7:104415972..104418312-chr7:104418747..104420588,2	K562	blood:
42	chr7:104415740..104417803-chr7:104432798..104435671,2	K562	blood:
43	chr7:104415972..104418312-chr7:104418747..104420588,2	K562	blood:
44	chr7:104427635..104430340-chr7:104433804..104436120,2	K562	blood:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-4	chr7:104444403-104444554	ENSG00000226869.2
2	lnc-SRPK2-4	chr7:104438784-104438854	ENSG00000226869.2
3	lnc-SRPK2-4	chr7:104436953-104437396	ENSG00000226869.2
4	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
5	lnc-SRPK2-4	chr7:104439840-104440516	ENSG00000226869.2
6	lnc-SRPK2-4	chr7:104444403-104444554	ENSG00000226869.2
7	lnc-MLL5-8	chr7:104456917-104457497	expReg_chr7_7241_+
8	lnc-SRPK2-4	chr7:104443286-104443410	NONHSAT122570
9	lnc-SRPK2-4	chr7:104409432-104411609	ucscGeneNc_uc003vcj_1
10	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
11	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
12	lnc-SRPK2-4	chr7:104444403-104444535	ENSG00000226869.2
13	lnc-SRPK2-4	chr7:104444403-104444533	ENSG00000226869.2
14	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122570
15	lnc-SRPK2-4	chr7:104438784-104438854	ENSG00000226869.2
16	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
17	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122568
18	lnc-SRPK2-4	chr7:104444403-104444531	ENSG00000226869.2
19	lnc-SRPK2-4	chr7:104440265-104440516	NONHSAT122568
20	lnc-SRPK2-4	chr7:104436963-104437396	ENSG00000226869.2
21	lnc-SRPK2-4	chr7:104443286-104443410	NONHSAT122568
22	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
23	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
24	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
25	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
26	lnc-SRPK2-4	chr7:104426178-104426232	ENSG00000226869.2
27	lnc-MLL5-9	chr7:104443904-104444763	expReg_chr7_7219_+
28	lnc-SRPK2-4	chr7:104438225-104441824	l_3463_NR_024586
29	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
30	lnc-SRPK2-4	chr7:104443899-104443986	ENSG00000226869.2
31	lnc-SRPK2-4	chr7:104409116-104409463	ENSG00000226869.2
32	lnc-SRPK2-4	chr7:104436954-104437396	NONHSAT122568
33	lnc-SRPK2-4	chr7:104425659-104425805	ENSG00000226869.2
34	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
35	lnc-MLL5-7	chr7:104466783-104467243	NONHSAT122572
36	lnc-SRPK2-4	chr7:104439447-104440516	NONHSAT122570
37	lnc-SRPK2-4	chr7:104426965-104427028	ENSG00000226869.2
38	lnc-MLL5-10	chr7:104442608-104443160	expReg_chr7_7212_+
39	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2

No data

Variant related genes	Relation type
LHFPL3-AS1	TF binding region
ENSG00000237606	TF binding region
LHFPL3-AS1	CpG island
ENSG00000237606	CpG island
ENSG00000226869	chromatin interactions
ENSG00000164815	chromatin interactions

Extended variants
information (count: 3335 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3335 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78712315	chr7:104401255-104401256	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs544570546	chr7:104401278-104401279	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555566029	chr7:104401286-104401287	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs76854052	chr7:104401301-104401302	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs574171949	chr7:104401313-104401314	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540807223	chr7:104401319-104401320	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200671205	chr7:104401376-104401377	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs117556937	chr7:104401378-104401379	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs80193553	chr7:104401390-104401391	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs33961896	chr7:104401391-104401392	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76299737	chr7:104401392-104401393	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs67845242	chr7:104401393-104401394	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533429349	chr7:104401463-104401464	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115961300	chr7:104401480-104401481	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs75455107	chr7:104401536-104401537	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs78411694	chr7:104401545-104401546	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs114257758	chr7:104401548-104401549	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs148754579	chr7:104401632-104401633	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73415655	chr7:104401639-104401640	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187014827	chr7:104401644-104401645	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142322135	chr7:104401649-104401650	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191855636	chr7:104401691-104401692	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539492410	chr7:104401721-104401722	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75836842	chr7:104401731-104401732	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563739344	chr7:104401736-104401737	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566631154	chr7:104401744-104401745	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535638059	chr7:104401797-104401798	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12674283	chr7:104401837-104401838	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12674286	chr7:104401879-104401880	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs111601854	chr7:104401880-104401881	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184266259	chr7:104401892-104401893	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558102484	chr7:104401909-104401910	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577958577	chr7:104401920-104401921	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552410564	chr7:104401932-104401933	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540287983	chr7:104401938-104401939	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560202965	chr7:104401939-104401940	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372940535	chr7:104401949-104401950	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542790679	chr7:104401986-104401987	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562974899	chr7:104402032-104402033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369633848	chr7:104402033-104402034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367858968	chr7:104402035-104402036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189572906	chr7:104402063-104402064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150833602	chr7:104402092-104402093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73415656	chr7:104402146-104402147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370529669	chr7:104402153-104402154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570383191	chr7:104402166-104402167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532968496	chr7:104402212-104402213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546662492	chr7:104402289-104402290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566570936	chr7:104402300-104402301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371583808	chr7:104402341-104402342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104397800-104402000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:104400800-104403400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104402000-104404000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:104403400-104405400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:104404000-104406000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:104405400-104405800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:104405800-104408000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104406000-104410400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:104408000-104408600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:104408600-104408800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:104408600-104409400	Enhancers	Brain Angular Gyrus	brain
12	chr7:104408600-104409400	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:104408600-104409600	Enhancers	Brain Anterior Caudate	brain
14	chr7:104408600-104411800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:104408800-104409200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:104408800-104409200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:104408800-104409400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:104408800-104409400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:104408800-104409800	Enhancers	Brain Hippocampus Middle	brain
20	chr7:104409200-104412400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:104409200-104412800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:104409400-104414200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:104409600-104412800	Weak transcription	Brain Anterior Caudate	brain
24	chr7:104409800-104413000	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:104410400-104411800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:104411000-104411200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:104411200-104411400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:104411200-104411400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:104411200-104411400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:104411200-104412800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:104411200-104413000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:104411400-104412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:104411400-104412800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:104411400-104414400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:104411600-104412800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:104411800-104412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:104411800-104412800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:104412400-104414000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:104412600-104413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:104412600-104413600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:104412600-104413800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:104412600-104414200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:104412600-104414400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:104412600-104414600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:104412800-104413000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:104412800-104413000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:104412800-104413000	Active TSS	Brain Anterior Caudate	brain
48	chr7:104412800-104413200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:104412800-104413400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:104412800-104413800	Enhancers	Cortex derived primary cultured neurospheres	brain

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