Variant report

Variant	nsv522815
Chromosome Location	chr7:25599858-25606120
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	ARID3A	chr7:25605491-25605914	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:25605520-25605894	K562	blood:	n/a	n/a
3	ATF3	chr7:25605508-25605772	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr7:25605551-25605757	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr7:25605486-25605782	GM12878	blood:	n/a	n/a
6	BCLAF1	chr7:25605559-25605843	GM12878	blood:	n/a	n/a
7	BHLHE40	chr7:25599653-25599907	K562	blood:	n/a	n/a
8	BRCA1	chr7:25605500-25605835	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:25605426-25605977	A549	lung:	n/a	chr7:25605716-25605729
10	CEBPB	chr7:25605525-25605849	H1-hESC	embryonic stem cell:	n/a	chr7:25605716-25605729
11	CEBPB	chr7:25605503-25605884	A549	lung:	n/a	chr7:25605716-25605729
12	CEBPB	chr7:25605529-25605881	Hela-S3	cervix:	n/a	chr7:25605716-25605729
13	CTCF	chr7:25605640-25605790	HMF	breast:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
14	CTCF	chr7:25605574-25605808	MCF-7	breast:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
15	CTCF	chr7:25605620-25605770	GM12867	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
16	CTCF	chr7:25605600-25605750	GM12870	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
17	CTCF	chr7:25605542-25605854	Hela-S3	cervix:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
18	CTCF	chr7:25605620-25605770	HA-sp	spinal cord:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
19	CTCF	chr7:25605540-25605690	WI-38	lung:	n/a	chr7:25605661-25605668 chr7:25605654-25605672 chr7:25605649-25605670 chr7:25605655-25605671
20	CTCF	chr7:25605620-25605770	Caco-2	colon:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
21	CTCF	chr7:25605254-25606051	K562	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
22	CTCF	chr7:25605592-25605788	GM12891	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
23	CTCF	chr7:25605620-25605770	GM06990	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
24	CTCF	chr7:25605620-25605770	GM12873	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
25	CTCF	chr7:25605543-25605835	GM20000	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
26	CTCF	chr7:25605600-25605750	HCT-116	colon:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
27	CTCF	chr7:25605600-25605750	NHEK	skin:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
28	CTCF	chr7:25605600-25605750	HVMF	connective:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
29	CTCF	chr7:25605600-25605750	AG09319	gingival:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
30	CTCF	chr7:25605527-25605877	Pancreas_OC	pancreas:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
31	CTCF	chr7:25605560-25605710	NHLF	lung:	n/a	chr7:25605661-25605668 chr7:25605654-25605672 chr7:25605649-25605670 chr7:25605655-25605671
32	CTCF	chr7:25605600-25605750	GM12871	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
33	CTCF	chr7:25605534-25605879	GM13977	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
34	CTCF	chr7:25605600-25605750	Hela-S3	cervix:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
35	CTCF	chr7:25605620-25605770	HPAF	blood vessel:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
36	CTCF	chr7:25605620-25605770	AoAF	blood vessel:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
37	CTCF	chr7:25605640-25605790	HPF	lung:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
38	CTCF	chr7:25604546-25607266	SK-N-SH	brain:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
39	CTCF	chr7:25605384-25605398	GM10266	blood:	n/a	n/a
40	CTCF	chr7:25605540-25605690	HFF	foreskin:	n/a	chr7:25605661-25605668 chr7:25605654-25605672 chr7:25605649-25605670 chr7:25605655-25605671
41	CTCF	chr7:25605620-25605770	HEK293	kidney:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
42	CTCF	chr7:25605720-25605870	A549	lung:	n/a	n/a
43	CTCF	chr7:25605486-25605873	Spleen_OC	spleen:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
44	CTCF	chr7:25605620-25605770	GM12870	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
45	CTCF	chr7:25605620-25605770	HCPEpiC	choroid plexus:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
46	CTCF	chr7:25605563-25605813	GM12892	blood:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
47	CTCF	chr7:25605620-25605770	HRE	kidney:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
48	CTCF	chr7:25605520-25605670	HFF-Myc	foreskin:	n/a	chr7:25605661-25605668 chr7:25605649-25605670
49	CTCF	chr7:25605620-25605770	MCF-7	breast:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716
50	CTCF	chr7:25605620-25605770	HUVEC	blood vessel:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:25601773-25601823	A549	lung:	n/a
2	chr7:25601773-25601823	HCF	heart:	n/a
3	chr7:25601773-25601823	SK-N-SH_RA	brain:	n/a
4	chr7:25601773-25601823	K562	blood:	n/a
5	chr7:25601773-25601823	GM12891	blood:	n/a
6	chr7:25601773-25601823	AG04449	skin:	fetal
7	chr7:25601773-25601823	HCM	heart:	n/a
8	chr7:25601773-25601823	Caco-2	colon:	n/a
9	chr7:25601773-25601823	ECC-1	luminal epithelium:	n/a
10	chr7:25601773-25601823	H1-hESC	embryonic stem cell:	embryo
11	chr7:25601773-25601823	AG04450	lung:	fetal
12	chr7:25601773-25601823	HAEpiC	amniotic membrane:	n/a
13	chr7:25601773-25601823	AoSMC	blood vessel:	n/a
14	chr7:25601773-25601823	ovcar-3	ovarian:	n/a
15	chr7:25601773-25601823	AG09309	skin:	n/a
16	chr7:25601773-25601823	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:25601773-25601823	HRE	kidney:	n/a
18	chr7:25601773-25601823	HepG2	liver:	n/a
19	chr7:25601773-25601823	BE2_C	brain:	n/a
20	chr7:25601773-25601823	PANC-1	pancreas:	n/a
21	chr7:25601773-25601823	HCT-116	colon:	n/a
22	chr7:25601773-25601823	IMR90	lung:	fetal
23	chr7:25601773-25601823	MCF10A-Er-Src	breast:	n/a
24	chr7:25601773-25601823	HEEpiC	esophagus:	n/a
25	chr7:25601773-25601823	LNCaP	prostate:	n/a
26	chr7:25601773-25601823	ProgFib	skin:	n/a
27	chr7:25601773-25601823	GM12892	blood:	n/a
28	chr7:25601773-25601823	NB4	blood:	n/a
29	chr7:25601773-25601823	HRPEpiC	eye:	n/a
30	chr7:25601773-25601823	BJ	skin:	n/a
31	chr7:25601773-25601823	MCF-7	breast:	n/a
32	chr7:25601773-25601823	NHDF-neo	bronchial:	n/a
33	chr7:25601773-25601823	RPTEC	kidney:	n/a
34	chr7:25601773-25601823	PFSK-1	brain:	n/a
35	chr7:25601773-25601823	SK-N-SH	brain:	n/a
36	chr7:25601773-25601823	PrEC	prostate:	n/a
37	chr7:25601773-25601823	SKMC	muscle:	n/a
38	chr7:25601773-25601823	AG09319	gingival:	n/a
39	chr7:25601773-25601823	HIPEpiC	eye:	n/a
40	chr7:25601773-25601823	HUVEC	blood vessel:	n/a
41	chr7:25601773-25601823	HL-60	blood:	n/a
42	chr7:25601773-25601823	Hela-S3	cervix:	n/a
43	chr7:25601773-25601823	Hepatocyte	liver:	n/a
44	chr7:25601773-25601823	GM06990	blood:	n/a
45	chr7:25601773-25601823	SAEC	small airway:	n/a
46	chr7:25601773-25601823	CMK	blood:	n/a
47	chr7:25601773-25601823	Jurkat	blood:	n/a
48	chr7:25601773-25601823	T-47D	breast:	n/a
49	chr7:25601773-25601823	HCPEpiC	choroid plexus:	n/a
50	chr7:25601773-25601823	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:25432296..25432868-chr7:25605222..25605812,2	MCF-7	breast:
2	chr7:25430463..25431643-chr7:25605112..25606187,14	K562	blood:
3	chr7:25605629..25606130-chr7:26404535..26405453,2	K562	blood:
4	chr7:25428818..25429573-chr7:25605415..25606098,2	K562	blood:
5	chr7:25596711..25599628-chr7:25603188..25605911,2	K562	blood:
6	chr7:25430622..25431559-chr7:25605393..25606130,7	MCF-7	breast:
7	chr7:25605314..25606102-chr7:25891008..25891805,3	MCF-7	breast:
8	chr7:25298973..25299854-chr7:25605283..25606167,4	MCF-7	breast:
9	chr7:25428848..25430407-chr7:25605173..25606452,6	MCF-7	breast:
10	chr7:25605147..25606187-chr7:25890189..25892015,14	MCF-7	breast:
11	chr7:25298470..25299852-chr7:25605228..25606576,11	MCF-7	breast:
12	chr7:25298951..25300126-chr7:25605192..25606795,18	K562	blood:
13	chr7:25429055..25432240-chr7:25604579..25606349,45	MCF-7	breast:
14	chr7:25433157..25433791-chr7:25605378..25606157,2	MCF-7	breast:
15	chr7:25605406..25606179-chr7:25890948..25891905,5	K562	blood:
16	chr7:25433474..25434141-chr7:25605268..25606353,4	K562	blood:
17	chr7:25431016..25431601-chr7:25604360..25604977,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPVF-10	chr7:25599496-25600861	ucscGeneNc_uc003sxp_1

Variant related genes	Relation type
ENSG00000222101	TF binding region
ENSG00000222101	CpG island

Extended variants
information (count: 240 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2999574	chr7:25599858-25599859	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373980537	chr7:25599874-25599875	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs141574514	chr7:25599898-25599899	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200934382	chr7:25599912-25599913	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs573140320	chr7:25599947-25599948	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187758137	chr7:25600002-25600003	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs548998781	chr7:25600084-25600085	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs17151888	chr7:25600108-25600109	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148353730	chr7:25600126-25600127	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570906462	chr7:25600136-25600137	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs533569827	chr7:25600139-25600140	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs553432087	chr7:25600153-25600154	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs573694349	chr7:25600179-25600180	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs73083983	chr7:25600243-25600244	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190938271	chr7:25600371-25600372	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs183131053	chr7:25600447-25600448	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs544920980	chr7:25600448-25600449	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs141495640	chr7:25600469-25600470	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs529520689	chr7:25600487-25600488	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs533352069	chr7:25600491-25600492	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs540647073	chr7:25600492-25600493	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs560356411	chr7:25600528-25600529	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs543298108	chr7:25600567-25600568	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs17151890	chr7:25600603-25600604	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17726931	chr7:25600612-25600613	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528820143	chr7:25600708-25600709	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs2938114	chr7:25600711-25600712	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551240024	chr7:25600722-25600723	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs571242594	chr7:25600723-25600724	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs533508306	chr7:25600739-25600740	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs114118279	chr7:25600775-25600776	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs187038475	chr7:25600824-25600825	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs567201221	chr7:25600870-25600871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536353756	chr7:25600876-25600877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556033483	chr7:25600881-25600882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192241452	chr7:25600883-25600884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184355752	chr7:25600884-25600885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11769634	chr7:25600891-25600892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150916777	chr7:25600896-25600897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202206495	chr7:25600908-25600909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56161015	chr7:25600923-25600924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560546720	chr7:25601027-25601028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573992488	chr7:25601045-25601046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567079935	chr7:25601050-25601051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536039149	chr7:25601061-25601062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56151685	chr7:25601062-25601063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs17151894	chr7:25601091-25601092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531385942	chr7:25601092-25601093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551177002	chr7:25601126-25601127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17783371	chr7:25601128-25601129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25579800-25600800	Weak transcription	Lung	lung
2	chr7:25594000-25601800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:25596200-25601600	Weak transcription	Fetal Brain Female	brain
4	chr7:25598000-25600200	Weak transcription	Fetal Lung	lung
5	chr7:25598600-25604400	Weak transcription	Fetal Kidney	kidney
6	chr7:25599400-25602800	Enhancers	Fetal Muscle Leg	muscle
7	chr7:25599600-25600600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:25599800-25600000	Enhancers	Stomach Smooth Muscle	stomach
9	chr7:25599800-25600000	Bivalent Enhancer	HSMMtube	muscle
10	chr7:25599800-25603800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:25600000-25600600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:25600200-25600400	Enhancers	Spleen	Spleen
13	chr7:25600200-25603000	Enhancers	Fetal Lung	lung
14	chr7:25600400-25603000	Enhancers	Fetal Stomach	stomach
15	chr7:25600600-25601800	Weak transcription	Spleen	Spleen
16	chr7:25600600-25602400	Enhancers	Stomach Smooth Muscle	stomach
17	chr7:25600600-25603000	Enhancers	Colon Smooth Muscle	Colon
18	chr7:25600800-25601600	Enhancers	Lung	lung
19	chr7:25600800-25602800	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:25600800-25603000	Enhancers	Fetal Muscle Trunk	muscle
21	chr7:25600800-25605200	Enhancers	Brain Germinal Matrix	brain
22	chr7:25601200-25602400	Enhancers	Brain Substantia Nigra	brain
23	chr7:25601400-25602000	Enhancers	Brain Anterior Caudate	brain
24	chr7:25601400-25603600	Enhancers	Fetal Brain Male	brain
25	chr7:25601600-25602400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:25601600-25602400	Enhancers	Right Atrium	heart
27	chr7:25601600-25602600	Enhancers	Fetal Brain Female	brain
28	chr7:25601600-25602800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:25601600-25603000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:25601800-25602200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:25601800-25602400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:25601800-25602400	Enhancers	Spleen	Spleen
33	chr7:25601800-25602800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:25602000-25602400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:25602000-25602400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:25602000-25602400	Enhancers	Psoas Muscle	Psoas
37	chr7:25602400-25603800	Weak transcription	Psoas Muscle	Psoas
38	chr7:25602400-25604400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:25602600-25604000	Weak transcription	Fetal Brain Female	brain
40	chr7:25602800-25604400	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:25602800-25604400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:25602800-25604400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:25603000-25604000	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:25603000-25604000	Weak transcription	Fetal Lung	lung
45	chr7:25603000-25604000	Weak transcription	Fetal Stomach	stomach
46	chr7:25603000-25604400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:25603000-25604600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:25603600-25605200	Weak transcription	Fetal Brain Male	brain
49	chr7:25603800-25604000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:25603800-25605000	Enhancers	Psoas Muscle	Psoas

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