Variant report

Variant	nsv523322
Chromosome Location	chr7:25601480-25606120
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	BRCA1	chr7:25605500-25605835	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr7:25605426-25605977	A549	lung:	n/a	chr7:25605716-25605729
9	CEBPB	chr7:25605525-25605849	H1-hESC	embryonic stem cell:	n/a	chr7:25605716-25605729
10	CEBPB	chr7:25605503-25605884	A549	lung:	n/a	chr7:25605716-25605729
11	CEBPB	chr7:25605529-25605881	Hela-S3	cervix:	n/a	chr7:25605716-25605729
12	CTCF	chr7:25605959-25606032	HUVEC	blood vessel:	n/a	n/a
13	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
14	CTCF	chr7:25605555-25605820	A549	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
15	CTCF	chr7:25605620-25605770	AG10803	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
16	CTCF	chr7:25605600-25605750	RPTEC	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
17	CTCF	chr7:25605600-25605750	AG04449	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
18	CTCF	chr7:25605620-25605770	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
19	CTCF	chr7:25605600-25605750	GM12869	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
20	CTCF	chr7:25606060-25606210	GM12867	blood:	n/a	n/a
21	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
22	CTCF	chr7:25605511-25605862	T-47D	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
23	CTCF	chr7:25605564-25605808	GM19239	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	chr7:25605528-25605796	SK-N-SH_RA	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
25	CTCF	chr7:25605544-25605840	GM10248	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	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
27	CTCF	chr7:25605540-25605690	HVMF	connective:	n/a	chr7:25605661-25605668 chr7:25605654-25605672 chr7:25605649-25605670 chr7:25605655-25605671
28	CTCF	chr7:25605520-25605670	HFF-Myc	foreskin:	n/a	chr7:25605661-25605668 chr7:25605649-25605670
29	CTCF	chr7:25605553-25605822	HepG2	liver:	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	chr7:25605406-25605981	ECC-1	luminal epithelium:	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	chr7:25605600-25605750	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
32	CTCF	chr7:25605566-25605807	Fibrobl	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
33	CTCF	chr7:25605620-25605770	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
34	CTCF	chr7:25605600-25605750	GM12865	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
35	CTCF	chr7:25605600-25605750	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
36	CTCF	chr7:25605394-25605913	A549	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
37	CTCF	chr7:25605438-25605891	A549	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	chr7:25605530-25605868	Medullo	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	chr7:25605525-25605851	Kidney_OC	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
40	CTCF	chr7:25605580-25605730	GM12878	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
41	CTCF	chr7:25605507-25605875	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
42	CTCF	chr7:25605600-25605750	AG10803	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
43	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
44	CTCF	chr7:25605640-25605790	SAEC	small airway:	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	chr7:25605640-25605790	GM12875	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
46	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
47	CTCF	chr7:25605201-25606159	HepG2	liver:	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	chr7:25605543-25605835	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
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	chr7:25605540-25605690	WI-38	lung:	n/a	chr7:25605661-25605668 chr7:25605654-25605672 chr7:25605649-25605670 chr7:25605655-25605671

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:25601773-25601823	AoSMC	blood vessel:	n/a
2	chr7:25601773-25601823	NHDF-neo	bronchial:	n/a
3	chr7:25601773-25601823	H1-hESC	embryonic stem cell:	embryo
4	chr7:25601773-25601823	AG09319	gingival:	n/a
5	chr7:25601773-25601823	BJ	skin:	n/a
6	chr7:25601773-25601823	PANC-1	pancreas:	n/a
7	chr7:25601773-25601823	AG10803	skin:	n/a
8	chr7:25601773-25601823	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:25601773-25601823	HCT-116	colon:	n/a
10	chr7:25601773-25601823	MCF-7	breast:	n/a
11	chr7:25601773-25601823	Caco-2	colon:	n/a
12	chr7:25601773-25601823	AG04449	skin:	fetal
13	chr7:25601773-25601823	HIPEpiC	eye:	n/a
14	chr7:25601773-25601823	AG09309	skin:	n/a
15	chr7:25601773-25601823	HEEpiC	esophagus:	n/a
16	chr7:25601773-25601823	Hepatocyte	liver:	n/a
17	chr7:25601773-25601823	AG04450	lung:	fetal
18	chr7:25601773-25601823	GM12878	blood:	n/a
19	chr7:25601773-25601823	HL-60	blood:	n/a
20	chr7:25601773-25601823	ECC-1	luminal epithelium:	n/a
21	chr7:25601773-25601823	NB4	blood:	n/a
22	chr7:25601773-25601823	HUVEC	blood vessel:	n/a
23	chr7:25601773-25601823	HMEC	breast:	n/a
24	chr7:25601773-25601823	HCPEpiC	choroid plexus:	n/a
25	chr7:25601773-25601823	HNPCEpiC	eye:	n/a
26	chr7:25601773-25601823	HAEpiC	amniotic membrane:	n/a
27	chr7:25601773-25601823	NT2-D1	testis:	n/a
28	chr7:25601773-25601823	U87	brain:	n/a
29	chr7:25601773-25601823	SKMC	muscle:	n/a
30	chr7:25601773-25601823	SK-N-SH_RA	brain:	n/a
31	chr7:25601773-25601823	K562	blood:	n/a
32	chr7:25601773-25601823	HEK293	kidney:	embryo
33	chr7:25601773-25601823	NHBE	bronchial:	n/a
34	chr7:25601773-25601823	ovcar-3	ovarian:	n/a
35	chr7:25601773-25601823	SK-N-SH	brain:	n/a
36	chr7:25601773-25601823	T-47D	breast:	n/a
37	chr7:25601773-25601823	Jurkat	blood:	n/a
38	chr7:25601773-25601823	ProgFib	skin:	n/a
39	chr7:25601773-25601823	HRPEpiC	eye:	n/a
40	chr7:25601773-25601823	GM12891	blood:	n/a
41	chr7:25601773-25601823	PrEC	prostate:	n/a
42	chr7:25601773-25601823	MCF10A-Er-Src	breast:	n/a
43	chr7:25601773-25601823	GM06990	blood:	n/a
44	chr7:25601773-25601823	HRE	kidney:	n/a
45	chr7:25601773-25601823	Hela-S3	cervix:	n/a
46	chr7:25601773-25601823	HRCEpiC	kidney:	n/a
47	chr7:25601773-25601823	GM12892	blood:	n/a
48	chr7:25601773-25601823	HepG2	liver:	n/a
49	chr7:25601773-25601823	SAEC	small airway:	n/a
50	chr7:25601773-25601823	IMR90	lung:	fetal

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

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

Extended variants
information (count: 182 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2960820	chr7:25601480-25601481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193149935	chr7:25601507-25601508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2999575	chr7:25601508-25601509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs578239976	chr7:25601518-25601519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117679207	chr7:25601519-25601520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146053666	chr7:25601524-25601525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573955538	chr7:25601572-25601573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542689572	chr7:25601627-25601628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371835021	chr7:25601774-25601775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140009250	chr7:25601812-25601813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544284406	chr7:25601817-25601818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544755863	chr7:25601832-25601833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564745358	chr7:25601869-25601870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527522909	chr7:25601948-25601949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112001025	chr7:25601961-25601962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143710893	chr7:25601962-25601963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554708865	chr7:25601971-25601972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373587443	chr7:25602021-25602022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145739416	chr7:25602037-25602038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569721096	chr7:25602054-25602055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148676922	chr7:25602159-25602160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556341731	chr7:25602176-25602177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571867836	chr7:25602206-25602207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115853395	chr7:25602216-25602217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7780911	chr7:25602231-25602232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs567879051	chr7:25602232-25602233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536621031	chr7:25602289-25602290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556282983	chr7:25602390-25602391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113867788	chr7:25602423-25602424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576085478	chr7:25602424-25602425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577736334	chr7:25602476-25602477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543232801	chr7:25602489-25602490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561945300	chr7:25602538-25602539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189316251	chr7:25602547-25602548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180739879	chr7:25602605-25602606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368949523	chr7:25602646-25602647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540886696	chr7:25602669-25602670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561210788	chr7:25602754-25602755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529949279	chr7:25602762-25602763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375465354	chr7:25602776-25602777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563264618	chr7:25602777-25602778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184872145	chr7:25602785-25602786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552278988	chr7:25602790-25602791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530106243	chr7:25602870-25602871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188369233	chr7:25602892-25602893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76401173	chr7:25602893-25602894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547695012	chr7:25602941-25602942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142162266	chr7:25602942-25602943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536550700	chr7:25602953-25602954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556478708	chr7:25603006-25603007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25594000-25601800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:25596200-25601600	Weak transcription	Fetal Brain Female	brain
3	chr7:25598600-25604400	Weak transcription	Fetal Kidney	kidney
4	chr7:25599400-25602800	Enhancers	Fetal Muscle Leg	muscle
5	chr7:25599800-25603800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:25600200-25603000	Enhancers	Fetal Lung	lung
7	chr7:25600400-25603000	Enhancers	Fetal Stomach	stomach
8	chr7:25600600-25601800	Weak transcription	Spleen	Spleen
9	chr7:25600600-25602400	Enhancers	Stomach Smooth Muscle	stomach
10	chr7:25600600-25603000	Enhancers	Colon Smooth Muscle	Colon
11	chr7:25600800-25601600	Enhancers	Lung	lung
12	chr7:25600800-25602800	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:25600800-25603000	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:25600800-25605200	Enhancers	Brain Germinal Matrix	brain
15	chr7:25601200-25602400	Enhancers	Brain Substantia Nigra	brain
16	chr7:25601400-25602000	Enhancers	Brain Anterior Caudate	brain
17	chr7:25601400-25603600	Enhancers	Fetal Brain Male	brain
18	chr7:25601600-25602400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:25601600-25602400	Enhancers	Right Atrium	heart
20	chr7:25601600-25602600	Enhancers	Fetal Brain Female	brain
21	chr7:25601600-25602800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:25601600-25603000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:25601800-25602200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:25601800-25602400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:25601800-25602400	Enhancers	Spleen	Spleen
26	chr7:25601800-25602800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:25602000-25602400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:25602000-25602400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:25602000-25602400	Enhancers	Psoas Muscle	Psoas
30	chr7:25602400-25603800	Weak transcription	Psoas Muscle	Psoas
31	chr7:25602400-25604400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:25602600-25604000	Weak transcription	Fetal Brain Female	brain
33	chr7:25602800-25604400	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:25602800-25604400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:25602800-25604400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:25603000-25604000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:25603000-25604000	Weak transcription	Fetal Lung	lung
38	chr7:25603000-25604000	Weak transcription	Fetal Stomach	stomach
39	chr7:25603000-25604400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:25603000-25604600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:25603600-25605200	Weak transcription	Fetal Brain Male	brain
42	chr7:25603800-25604000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:25603800-25605000	Enhancers	Psoas Muscle	Psoas
44	chr7:25604000-25604400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:25604000-25605200	Enhancers	Fetal Stomach	stomach
46	chr7:25604000-25605400	Enhancers	Fetal Brain Female	brain
47	chr7:25604000-25606000	Enhancers	Colon Smooth Muscle	Colon
48	chr7:25604000-25606200	Enhancers	Fetal Lung	lung
49	chr7:25604400-25604600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:25604400-25604600	Bivalent Enhancer	Brain Substantia Nigra	brain

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