Variant report

Variant	nsv970911
Chromosome Location	chr7:99275492-99333590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:882)
CpG islands
(count:672)
Chromatin interactive
region (count:28)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:882 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99327072-99327923	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:99317835-99318286	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:99276726-99276949	K562	blood:	n/a	n/a
4	ARID3A	chr7:99275040-99275588	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:99311722-99312000	K562	blood:	n/a	n/a
6	ARID3A	chr7:99291067-99291703	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:99291947-99292881	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:99292023-99292680	K562	blood:	n/a	n/a
9	ARID3A	chr7:99330673-99331018	HepG2	liver:	n/a	n/a
10	ARID3A	chr7:99320919-99321131	K562	blood:	n/a	n/a
11	ARID3A	chr7:99276641-99277198	HepG2	liver:	n/a	n/a
12	ARID3A	chr7:99291078-99291809	K562	blood:	n/a	n/a
13	ARID3A	chr7:99277522-99277905	K562	blood:	n/a	n/a
14	ATF1	chr7:99277534-99277889	K562	blood:	n/a	n/a
15	ATF1	chr7:99276730-99277110	K562	blood:	n/a	n/a
16	ATF1	chr7:99320902-99321097	K562	blood:	n/a	n/a
17	ATF1	chr7:99291069-99291471	K562	blood:	n/a	n/a
18	ATF3	chr7:99276613-99276949	K562	blood:	n/a	n/a
19	ATF3	chr7:99276749-99276998	K562	blood:	n/a	n/a
20	BACH1	chr7:99317237-99317310	K562	blood:	n/a	n/a
21	BCL3	chr7:99283056-99283395	GM12878	blood:	n/a	n/a
22	BCL3	chr7:99282970-99283461	GM12878	blood:	n/a	n/a
23	BCL3	chr7:99276549-99277179	A549	lung:	n/a	n/a
24	BCL3	chr7:99276577-99277130	A549	lung:	n/a	n/a
25	BCLAF1	chr7:99277067-99277817	K562	blood:	n/a	chr7:99277796-99277803
26	BCLAF1	chr7:99277031-99277835	K562	blood:	n/a	chr7:99277796-99277803
27	BHLHE40	chr7:99276739-99276952	K562	blood:	n/a	n/a
28	BHLHE40	chr7:99291009-99291906	K562	blood:	n/a	n/a
29	BHLHE40	chr7:99327117-99327287	HepG2	liver:	n/a	n/a
30	BHLHE40	chr7:99277530-99277779	K562	blood:	n/a	n/a
31	BHLHE40	chr7:99275274-99275635	HepG2	liver:	n/a	n/a
32	BHLHE40	chr7:99292382-99292498	K562	blood:	n/a	chr7:99292397-99292413
33	CBX3	chr7:99325258-99325541	K562	blood:	n/a	n/a
34	CBX3	chr7:99283909-99284335	K562	blood:	n/a	n/a
35	CBX3	chr7:99277327-99277872	K562	blood:	n/a	n/a
36	CBX3	chr7:99276604-99277308	K562	blood:	n/a	n/a
37	CBX3	chr7:99290779-99291865	K562	blood:	n/a	n/a
38	CBX3	chr7:99276567-99277403	HCT-116	colon:	n/a	n/a
39	CBX3	chr7:99325244-99325556	K562	blood:	n/a	n/a
40	CCNT2	chr7:99291064-99291530	K562	blood:	n/a	n/a
41	CCNT2	chr7:99292313-99292518	K562	blood:	n/a	n/a
42	CCNT2	chr7:99277295-99277857	K562	blood:	n/a	n/a
43	CEBPB	chr7:99326951-99327509	MCF-7	breast:	n/a	chr7:99327229-99327240
44	CEBPB	chr7:99317988-99318190	HepG2	liver:	n/a	n/a
45	CEBPB	chr7:99320854-99321043	K562	blood:	n/a	n/a
46	CEBPB	chr7:99291995-99292195	HepG2	liver:	n/a	n/a
47	CEBPB	chr7:99327129-99327327	HepG2	liver:	n/a	chr7:99327229-99327240
48	CEBPB	chr7:99327000-99327473	HepG2	liver:	n/a	chr7:99327229-99327240
49	CEBPB	chr7:99327063-99327426	K562	blood:	n/a	chr7:99327229-99327240
50	CEBPB	chr7:99317967-99318253	HepG2	liver:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99302981-99303031	HL-60	blood:	n/a
2	chr7:99302981-99303031	HL-60	blood:	n/a
3	chr7:99332914-99332964	PFSK-1	brain:	n/a
4	chr7:99332914-99332964	LNCaP	prostate:	n/a
5	chr7:99332914-99332964	IMR90	lung:	fetal
6	chr7:99293676-99293726	HRE	kidney:	n/a
7	chr7:99277394-99277444	NT2-D1	testis:	n/a
8	chr7:99277978-99278028	SKMC	muscle:	n/a
9	chr7:99291510-99291560	NT2-D1	testis:	n/a
10	chr7:99292361-99292411	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:99330962-99331012	HCM	heart:	n/a
12	chr7:99277978-99278028	NT2-D1	testis:	n/a
13	chr7:99332914-99332964	AG10803	skin:	n/a
14	chr7:99293739-99293789	SK-N-SH_RA	brain:	n/a
15	chr7:99293676-99293726	GM06990	blood:	n/a
16	chr7:99292361-99292411	ovcar-3	ovarian:	n/a
17	chr7:99293676-99293726	HRCEpiC	kidney:	n/a
18	chr7:99293676-99293726	SK-N-MC	brain:	n/a
19	chr7:99277394-99277444	RPTEC	kidney:	n/a
20	chr7:99332765-99332815	AG09309	skin:	n/a
21	chr7:99302981-99303031	AG09319	gingival:	n/a
22	chr7:99293739-99293789	HUVEC	blood vessel:	n/a
23	chr7:99302981-99303031	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:99292361-99292411	MCF-7	breast:	n/a
25	chr7:99292361-99292411	HEEpiC	esophagus:	n/a
26	chr7:99277978-99278028	GM12878	blood:	n/a
27	chr7:99277978-99278028	ovcar-3	ovarian:	n/a
28	chr7:99292361-99292411	AG10803	skin:	n/a
29	chr7:99277496-99277546	AG04450	lung:	fetal
30	chr7:99292361-99292411	Hela-S3	cervix:	n/a
31	chr7:99277394-99277444	LNCaP	prostate:	n/a
32	chr7:99302981-99303031	AoSMC	blood vessel:	n/a
33	chr7:99291510-99291560	HCT-116	colon:	n/a
34	chr7:99330962-99331012	HepG2	liver:	n/a
35	chr7:99302981-99303031	RPTEC	kidney:	n/a
36	chr7:99330962-99331012	A549	lung:	n/a
37	chr7:99330962-99331012	GM06990	blood:	n/a
38	chr7:99332914-99332964	GM12892	blood:	n/a
39	chr7:99293739-99293789	IMR90	lung:	fetal
40	chr7:99332765-99332815	Hepatocyte	liver:	n/a
41	chr7:99293676-99293726	SK-N-SH_RA	brain:	n/a
42	chr7:99277394-99277444	SK-N-SH	brain:	n/a
43	chr7:99292361-99292411	K562	blood:	n/a
44	chr7:99293676-99293726	BE2_C	brain:	n/a
45	chr7:99332914-99332964	RPTEC	kidney:	n/a
46	chr7:99293739-99293789	AG04450	lung:	fetal
47	chr7:99292361-99292411	U87	brain:	n/a
48	chr7:99291510-99291560	HL-60	blood:	n/a
49	chr7:99332914-99332964	U87	brain:	n/a
50	chr7:99293739-99293789	SK-N-SH	brain:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99277694..99280617-chr7:99280662..99284055,5	K562	blood:
2	chr7:99299012..99301663-chr7:99302830..99305299,2	K562	blood:
3	chr7:99261966..99264230-chr7:99288862..99291272,2	K562	blood:
4	chr7:99277694..99280617-chr7:99280662..99284055,5	K562	blood:
5	chr7:99274008..99275570-chr7:99277098..99278652,2	K562	blood:
6	chr7:99214034..99216818-chr7:99278622..99282260,3	K562	blood:
7	chr7:99278416..99280408-chr7:99285917..99287760,2	K562	blood:
8	chr7:99299012..99301663-chr7:99302830..99305299,2	K562	blood:
9	chr7:99327130..99328855-chr7:99331843..99334078,2	K562	blood:
10	chr7:99307529..99309266-chr7:99310963..99313906,2	K562	blood:
11	chr7:99274617..99279500-chr7:99280535..99283312,6	K562	blood:
12	chr7:99278416..99280408-chr7:99285917..99287760,2	K562	blood:
13	chr7:99304648..99307501-chr7:99308738..99311452,2	K562	blood:
14	chr7:99272011..99273927-chr7:99275707..99277510,2	K562	blood:
15	chr7:99274008..99275570-chr7:99277098..99278652,2	K562	blood:
16	chr7:99270833..99272685-chr7:99275092..99276816,2	K562	blood:
17	chr7:99296360..99298503-chr7:99313450..99315683,2	MCF-7	breast:
18	chr7:99307529..99309266-chr7:99310963..99313906,2	K562	blood:
19	chr7:99262294..99263935-chr7:99275134..99276805,2	K562	blood:
20	chr7:99214995..99216621-chr7:99278112..99280830,2	MCF-7	breast:
21	chr7:99275381..99276881-chr7:99296561..99298122,2	MCF-7	breast:
22	chr7:99301150..99304477-chr7:99306434..99308951,3	K562	blood:
23	chr7:99226823..99229371-chr7:99278363..99279988,2	K562	blood:
24	chr7:99277038..99279946-chr7:99291489..99293393,2	K562	blood:
25	chr7:99327792..99330076-chr7:99335753..99337453,2	K562	blood:
26	chr7:99214549..99216608-chr7:99325712..99327239,2	MCF-7	breast:
27	chr7:99275381..99276881-chr7:99296561..99298122,2	MCF-7	breast:
28	chr7:99301150..99304477-chr7:99306434..99308951,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP3A7-2	chr7:99277449-99277619	NONHSAT122265
2	lnc-CYP3A7-1	chr7:99328196-99328775	NONHSAT122271
3	lnc-CYP3A7-1	chr7:99332646-99332819	NONHSAT122271

No data

Variant related genes	Relation type
CYP3A7	TF binding region
ENSG00000221487	TF binding region
CYP3A5	TF binding region
CYP3A7	CpG island
ENSG00000221487	CpG island
CYP3A5	CpG island
ENSG00000106258	chromatin interactions
ENSG00000197037	chromatin interactions
ENSG00000221487	chromatin interactions
ENSG00000160870	chromatin interactions

Extended variants
information (count: 2223 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2223 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536808029	chr7:99275510-99275511	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs142748477	chr7:99275521-99275522	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554764755	chr7:99275530-99275531	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373258927	chr7:99275541-99275542	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543693182	chr7:99275572-99275573	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558854022	chr7:99275583-99275584	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551256855	chr7:99275599-99275600	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541109625	chr7:99275677-99275678	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570400927	chr7:99275694-99275695	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559759266	chr7:99275711-99275712	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs41300737	chr7:99275726-99275727	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185099766	chr7:99275729-99275730	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs41300734	chr7:99275775-99275776	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs41300731	chr7:99275776-99275777	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550095781	chr7:99275808-99275809	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540800669	chr7:99275845-99275846	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs571491184	chr7:99275861-99275862	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs41300728	chr7:99275905-99275906	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4646445	chr7:99275906-99275907	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565741691	chr7:99275915-99275916	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535958679	chr7:99275970-99275971	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188199605	chr7:99275998-99275999	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149255144	chr7:99276002-99276003	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs115171091	chr7:99276064-99276065	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565375826	chr7:99276073-99276074	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556021133	chr7:99276077-99276078	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569490039	chr7:99276084-99276085	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78173108	chr7:99276105-99276106	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532843644	chr7:99276127-99276128	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs180992986	chr7:99276191-99276192	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4646444	chr7:99276304-99276305	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4646443	chr7:99276323-99276324	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs41300725	chr7:99276336-99276337	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs41300722	chr7:99276410-99276411	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs145965409	chr7:99276489-99276490	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs4646442	chr7:99276493-99276494	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs114522009	chr7:99276508-99276509	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs531525683	chr7:99276517-99276518	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs543651650	chr7:99276518-99276519	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565139686	chr7:99276551-99276552	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs532327286	chr7:99276620-99276621	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547336974	chr7:99276626-99276627	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs139935093	chr7:99276627-99276628	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs529669358	chr7:99276641-99276642	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562418720	chr7:99276652-99276653	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs34082608	chr7:99276667-99276668	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183849961	chr7:99276700-99276701	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142165231	chr7:99276719-99276720	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552500911	chr7:99276723-99276724	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs150808902	chr7:99276746-99276747	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Gastric cancer	24379144	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
Prostate cancer	16461572	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
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99235800-99276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:99243000-99278800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:99243600-99276800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:99251600-99276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99255800-99277000	Weak transcription	Fetal Brain Male	brain
6	chr7:99258400-99276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:99258600-99276600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:99260200-99277000	Weak transcription	Spleen	Spleen
9	chr7:99260600-99276600	Weak transcription	Adipose Nuclei	Adipose
10	chr7:99260600-99276800	Weak transcription	Left Ventricle	heart
11	chr7:99261400-99277000	Weak transcription	Small Intestine	intestine
12	chr7:99263600-99277400	Weak transcription	Aorta	Aorta
13	chr7:99269000-99276600	Weak transcription	HMEC	breast
14	chr7:99272600-99275600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:99273000-99276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:99273000-99276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:99273200-99276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:99273400-99277000	Transcr. at gene 5' and 3'	Liver	Liver
19	chr7:99273600-99275600	Genic enhancers	Gastric	stomach
20	chr7:99273800-99276000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
21	chr7:99273800-99290400	Weak transcription	Primary T cells from cord blood	blood
22	chr7:99274400-99276200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
23	chr7:99274400-99276800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:99274600-99275600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
25	chr7:99274600-99275800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
26	chr7:99274600-99276600	Enhancers	K562	blood
27	chr7:99274800-99275800	Genic enhancers	Fetal Lung	lung
28	chr7:99275000-99276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:99275000-99276600	Weak transcription	NHDF-Ad	bronchial
30	chr7:99275000-99277600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr7:99275000-99277600	Active TSS	Stomach Mucosa	stomach
32	chr7:99275200-99275600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:99275200-99275600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
34	chr7:99275200-99275600	Weak transcription	A549	lung
35	chr7:99275200-99276000	Flanking Active TSS	Pancreas	Pancrea
36	chr7:99275200-99276600	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:99275400-99275600	Active TSS	Colonic Mucosa	Colon
38	chr7:99275400-99275600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
39	chr7:99275400-99275600	Flanking Active TSS	HepG2	liver
40	chr7:99275400-99276000	Active TSS	Lung	lung
41	chr7:99275400-99277400	Active TSS	Fetal Stomach	stomach
42	chr7:99275400-99277800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:99275600-99275800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:99275600-99275800	Flanking Active TSS	Colonic Mucosa	Colon
45	chr7:99275600-99275800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:99275600-99275800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:99275600-99275800	Enhancers	HepG2	liver
48	chr7:99275600-99276000	Flanking Active TSS	Esophagus	oesophagus
49	chr7:99275600-99276000	Transcr. at gene 5' and 3'	Gastric	stomach
50	chr7:99275600-99276000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links