Variant report

Variant	nsv606672
Chromosome Location	chr7:38393403-38402134
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	BATF	chr7:38398491-38398925	GM12878	blood:	n/a	n/a
2	BATF	chr7:38397936-38398227	GM12878	blood:	n/a	n/a
3	BATF	chr7:38397831-38398310	GM12878	blood:	n/a	n/a
4	BATF	chr7:38393728-38393936	GM12878	blood:	n/a	n/a
5	BCL11A	chr7:38398493-38398682	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:38393701-38393947	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:38397653-38398122	GM12878	blood:	n/a	chr7:38398022-38398031
8	BHLHE40	chr7:38393917-38394132	K562	blood:	n/a	n/a
9	BHLHE40	chr7:38398804-38399002	K562	blood:	n/a	n/a
10	CBX3	chr7:38393853-38394294	K562	blood:	n/a	n/a
11	CBX3	chr7:38398578-38399039	K562	blood:	n/a	n/a
12	CEBPB	chr7:38400447-38400672	A549	lung:	n/a	n/a
13	CHD2	chr7:38398814-38398836	GM12878	blood:	n/a	n/a
14	CTCF	chr7:38398700-38398850	WI-38	lung:	n/a	n/a
15	CTCF	chr7:38393916-38394250	Spleen_OC	spleen:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
16	CTCF	chr7:38398680-38398830	AG10803	skin:	n/a	n/a
17	CTCF	chr7:38398320-38398470	GM12872	blood:	n/a	n/a
18	CTCF	chr7:38393956-38393959	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr7:38399036-38399046	GM13977	blood:	n/a	n/a
20	CTCF	chr7:38394020-38394170	GM12866	blood:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
21	CTCF	chr7:38398680-38398830	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr7:38393962-38394164	GM20000	blood:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
23	CTCF	chr7:38398680-38398830	RPTEC	kidney:	n/a	n/a
24	CTCF	chr7:38393880-38394030	HAc	cerebellar:	n/a	n/a
25	CTCF	chr7:38393880-38394030	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr7:38393980-38394130	GM12867	blood:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
27	CTCF	chr7:38393980-38394130	WERI-Rb-1	eye:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
28	CTCF	chr7:38399060-38399210	HCM	heart:	n/a	n/a
29	CTCF	chr7:38394000-38394150	SAEC	small airway:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
30	CTCF	chr7:38393980-38394130	HBMEC	blood vessel:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
31	CTCF	chr7:38393980-38394130	HCPEpiC	choroid plexus:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
32	CTCF	chr7:38398680-38398830	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr7:38399080-38399230	HepG2	liver:	n/a	n/a
34	CTCF	chr7:38398685-38398983	Medullo	brain:	n/a	chr7:38398837-38398853 chr7:38398838-38398851 chr7:38398838-38398851 chr7:38398831-38398852 chr7:38398836-38398854
35	CTCF	chr7:38398680-38398830	BJ	skin:	n/a	n/a
36	CTCF	chr7:38398660-38398810	NHLF	lung:	n/a	n/a
37	CTCF	chr7:38393980-38394130	HUVEC	blood vessel:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
38	CTCF	chr7:38398680-38398830	HAc	cerebellar:	n/a	n/a
39	CTCF	chr7:38393980-38394130	GM12864	blood:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
40	CTCF	chr7:38399100-38399250	NHLF	lung:	n/a	n/a
41	CTCF	chr7:38398680-38398830	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr7:38393937-38394176	Hela-S3	cervix:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
43	CTCF	chr7:38398680-38398830	HEK293	kidney:	n/a	n/a
44	CTCF	chr7:38398624-38399013	GM12878	blood:	n/a	chr7:38398837-38398853 chr7:38398838-38398851 chr7:38398838-38398851 chr7:38398831-38398852 chr7:38398836-38398854
45	CTCF	chr7:38393936-38394181	A549	lung:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
46	CTCF	chr7:38393980-38394130	K562	blood:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
47	CTCF	chr7:38393900-38394050	HMF	breast:	n/a	n/a
48	CTCF	chr7:38399060-38399210	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr7:38394000-38394150	HPAF	blood vessel:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066
50	CTCF	chr7:38394000-38394150	AG09319	gingival:	n/a	chr7:38394049-38394065 chr7:38394050-38394063 chr7:38394050-38394063 chr7:38394043-38394064 chr7:38394048-38394066

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38398836-38398886	RPTEC	kidney:	n/a
2	chr7:38398839-38398889	HCT-116	colon:	n/a
3	chr7:38398836-38398886	HMEC	breast:	n/a
4	chr7:38398836-38398886	MCF-7	breast:	n/a
5	chr7:38398839-38398889	HAEpiC	amniotic membrane:	n/a
6	chr7:38398836-38398886	Hepatocyte	liver:	n/a
7	chr7:38398836-38398886	SKMC	muscle:	n/a
8	chr7:38398836-38398886	AG09319	gingival:	n/a
9	chr7:38398836-38398886	GM12878	blood:	n/a
10	chr7:38398839-38398889	GM06990	blood:	n/a
11	chr7:38398839-38398889	NHBE	bronchial:	n/a
12	chr7:38398839-38398889	HRE	kidney:	n/a
13	chr7:38398836-38398886	NH-A	brain:	n/a
14	chr7:38398839-38398889	Caco-2	colon:	n/a
15	chr7:38398836-38398886	K562	blood:	n/a
16	chr7:38398836-38398886	AoSMC	blood vessel:	n/a
17	chr7:38398839-38398889	GM12892	blood:	n/a
18	chr7:38398836-38398886	SK-N-SH_RA	brain:	n/a
19	chr7:38398839-38398889	AoSMC	blood vessel:	n/a
20	chr7:38398839-38398889	HepG2	liver:	n/a
21	chr7:38398839-38398889	BJ	skin:	n/a
22	chr7:38398836-38398886	H1-hESC	embryonic stem cell:	embryo
23	chr7:38398839-38398889	AG04450	lung:	fetal
24	chr7:38398839-38398889	SK-N-MC	brain:	n/a
25	chr7:38398839-38398889	PANC-1	pancreas:	n/a
26	chr7:38398839-38398889	AG09319	gingival:	n/a
27	chr7:38398839-38398889	HRPEpiC	eye:	n/a
28	chr7:38398836-38398886	BE2_C	brain:	n/a
29	chr7:38398839-38398889	HUVEC	blood vessel:	n/a
30	chr7:38398839-38398889	HMEC	breast:	n/a
31	chr7:38398839-38398889	PFSK-1	brain:	n/a
32	chr7:38398839-38398889	HEK293	kidney:	embryo
33	chr7:38398839-38398889	HCF	heart:	n/a
34	chr7:38398839-38398889	Jurkat	blood:	n/a
35	chr7:38398836-38398886	PrEC	prostate:	n/a
36	chr7:38398836-38398886	Caco-2	colon:	n/a
37	chr7:38398839-38398889	Hepatocyte	liver:	n/a
38	chr7:38398836-38398886	CMK	blood:	n/a
39	chr7:38398836-38398886	SK-N-SH	brain:	n/a
40	chr7:38398836-38398886	GM19239	blood:	n/a
41	chr7:38398836-38398886	ECC-1	luminal epithelium:	n/a
42	chr7:38398839-38398889	T-47D	breast:	n/a
43	chr7:38398839-38398889	ProgFib	skin:	n/a
44	chr7:38398836-38398886	SAEC	small airway:	n/a
45	chr7:38398839-38398889	H1-hESC	embryonic stem cell:	embryo
46	chr7:38398836-38398886	GM12891	blood:	n/a
47	chr7:38398839-38398889	AG10803	skin:	n/a
48	chr7:38398839-38398889	HIPEpiC	eye:	n/a
49	chr7:38398836-38398886	HCM	heart:	n/a
50	chr7:38398839-38398889	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38375070..38375771-chr7:38393808..38394547,2	MCF-7	breast:
2	chr7:38378347..38380949-chr7:38392502..38394879,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMPH-3	chr7:38395172-38395463	NONHSAT120181
2	lnc-STARD3NL-4	chr7:38400418-38400732	NONHSAT120183
3	lnc-STARD3NL-3	chr7:38397521-38397735	NONHSAT120182
4	lnc-AMPH-4	chr7:38394799-38395026	NONHSAT120180

Variant related genes	Relation type
TRGV5	TF binding region
TRGV4	TF binding region
TRGV3	TF binding region
TRGV5	CpG island
TRGV4	CpG island
TRGV3	CpG island
ENSG00000249978	chromatin interactions
ENSG00000226212	chromatin interactions

Extended variants
information (count: 622 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2017501	chr7:38393403-38393404	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73357292	chr7:38393424-38393425	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370491454	chr7:38393434-38393435	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542501046	chr7:38393438-38393439	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562152640	chr7:38393439-38393440	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375308633	chr7:38393444-38393445	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78292907	chr7:38393448-38393449	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547913651	chr7:38393455-38393456	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202199941	chr7:38393460-38393461	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200490803	chr7:38393466-38393467	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374679024	chr7:38393467-38393468	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368809775	chr7:38393473-38393474	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs533188398	chr7:38393479-38393480	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139204843	chr7:38393480-38393481	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570300516	chr7:38393493-38393494	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs149922116	chr7:38393501-38393502	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371525256	chr7:38393515-38393516	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73357293	chr7:38393524-38393525	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111340760	chr7:38393527-38393528	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74465876	chr7:38393534-38393535	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182240038	chr7:38393575-38393576	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs147620977	chr7:38393581-38393582	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs34822522	chr7:38393592-38393593	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377340429	chr7:38393596-38393597	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2540195	chr7:38393598-38393599	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373361466	chr7:38393602-38393603	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185377428	chr7:38393632-38393633	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573890202	chr7:38393646-38393647	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147704672	chr7:38393654-38393655	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559541820	chr7:38393668-38393669	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs386712329	chr7:38393674-38393675	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373608083	chr7:38393700-38393701	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs386712330	chr7:38393712-38393713	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2215952	chr7:38393713-38393714	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186875441	chr7:38393719-38393720	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs533360040	chr7:38393733-38393734	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376746951	chr7:38393734-38393735	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563712038	chr7:38393743-38393744	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371385531	chr7:38393756-38393757	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374568821	chr7:38393767-38393768	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs367620972	chr7:38393768-38393769	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs193007463	chr7:38393773-38393774	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199846398	chr7:38393779-38393780	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs3999882	chr7:38393798-38393799	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549289752	chr7:38393814-38393815	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146342894	chr7:38393822-38393823	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs550191475	chr7:38393851-38393852	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs369734932	chr7:38393857-38393858	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs2392549	chr7:38393858-38393859	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377456821	chr7:38393871-38393872	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38381400-38408000	Weak transcription	Right Atrium	heart
2	chr7:38388800-38394200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:38389600-38413800	Weak transcription	K562	blood
4	chr7:38390600-38393600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:38390600-38394600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:38391200-38394200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:38391400-38396600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:38392000-38394200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:38392000-38394600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:38392200-38393800	Enhancers	Primary T cells from cord blood	blood
11	chr7:38392400-38398200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:38392600-38393800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr7:38392800-38393600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:38392800-38393800	Enhancers	Spleen	Spleen
15	chr7:38392800-38394000	Enhancers	Primary B cells from cord blood	blood
16	chr7:38392800-38394000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr7:38392800-38394200	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:38392800-38394400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:38392800-38394400	Flanking Active TSS	Dnd41	blood
20	chr7:38393200-38393600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:38393200-38393600	Flanking Active TSS	Thymus	Thymus
22	chr7:38393200-38393800	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr7:38393200-38393800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:38393200-38394400	Enhancers	GM12878-XiMat	blood
25	chr7:38393200-38394600	Enhancers	Fetal Thymus	thymus
26	chr7:38393400-38393600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:38393400-38393600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:38393400-38393800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr7:38393600-38393800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:38393600-38394000	Enhancers	Thymus	Thymus
31	chr7:38393600-38394400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:38393600-38395400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:38393600-38395400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:38393600-38395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:38393800-38394000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr7:38393800-38394000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr7:38393800-38394200	Weak transcription	Spleen	Spleen
38	chr7:38393800-38394400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:38393800-38396000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:38393800-38396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:38393800-38398000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:38394000-38394400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:38394000-38395600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr7:38394000-38396400	Weak transcription	Primary T cells from cord blood	blood
45	chr7:38394000-38397000	Weak transcription	Primary B cells from cord blood	blood
46	chr7:38394000-38397400	Weak transcription	Thymus	Thymus
47	chr7:38394200-38394400	Enhancers	Spleen	Spleen
48	chr7:38394200-38395000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:38394200-38395200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:38394200-38396200	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links