Variant report

Variant	nsv1027806
Chromosome Location	chr7:12842708-12875714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12867009..12868914-chr7:12869062..12871956,2	K562	blood:
2	chr7:12818300..12820351-chr7:12841940..12843743,2	K562	blood:
3	chr7:12842993..12845876-chr7:12849067..12850592,2	K562	blood:
4	chr7:12839807..12841884-chr7:12848614..12851118,2	K562	blood:
5	chr7:12757666..12759532-chr7:12853077..12856020,2	K562	blood:
6	chr7:12842993..12845876-chr7:12849067..12850592,2	K562	blood:
7	chr7:12731429..12733326-chr7:12855233..12857864,2	K562	blood:
8	chr7:12848902..12851417-chr7:12852205..12854551,2	MCF-7	breast:
9	chr7:12847834..12849363-chr7:12852693..12855158,2	K562	blood:
10	chr7:12725501..12727537-chr7:12863824..12866814,2	K562	blood:
11	chr7:12867009..12868914-chr7:12869062..12871956,2	K562	blood:
12	chr7:12848902..12851417-chr7:12852205..12854551,2	MCF-7	breast:
13	chr7:12752598..12755770-chr7:12846803..12850536,3	K562	blood:
14	chr7:12769404..12771505-chr7:12844117..12845724,2	K562	blood:
15	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
16	chr7:12725132..12728581-chr7:12853951..12856846,4	K562	blood:
17	chr7:12853864..12855585-chr7:12855723..12857729,3	K562	blood:
18	chr7:12732805..12735607-chr7:12848862..12851491,2	K562	blood:
19	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
20	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
21	chr7:12853166..12855784-chr7:12857906..12859818,2	K562	blood:
22	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
23	chr7:12853166..12855784-chr7:12857906..12859818,2	K562	blood:
24	chr7:12729413..12731637-chr7:12843330..12845682,3	K562	blood:
25	chr7:12853864..12855585-chr7:12855723..12857729,3	K562	blood:
26	chr7:12727055..12727630-chr7:12845268..12846026,2	NB4	blood:
27	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
28	chr7:12753064..12757665-chr7:12839772..12843667,5	K562	blood:
29	chr7:12802710..12805631-chr7:12843539..12845086,2	K562	blood:
30	chr7:12847834..12849363-chr7:12852693..12855158,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWDE-8	chr7:12873748-12873904	l_3364_chr7:12873747-12879661_testes
2	lnc-VWDE-8	chr7:12873911-12873945	l_3364_chr7:12873747-12879661_testes

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 1467 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539939418	chr7:12842737-12842738	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112664664	chr7:12842763-12842764	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs367677451	chr7:12842769-12842770	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553961227	chr7:12842784-12842785	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560159862	chr7:12842806-12842807	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs367859154	chr7:12842846-12842847	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183785900	chr7:12842848-12842849	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569005535	chr7:12842874-12842875	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573776750	chr7:12842877-12842878	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141091015	chr7:12842897-12842898	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28545617	chr7:12842906-12842907	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370585714	chr7:12842914-12842915	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373949128	chr7:12842934-12842935	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536619633	chr7:12842979-12842980	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553107248	chr7:12842991-12842992	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73292083	chr7:12843011-12843012	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538782624	chr7:12843016-12843017	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575885020	chr7:12843098-12843099	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs59136516	chr7:12843112-12843113	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77415297	chr7:12843235-12843236	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561219738	chr7:12843306-12843307	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560465205	chr7:12843350-12843351	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574810530	chr7:12843362-12843363	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs539829589	chr7:12843442-12843443	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150256595	chr7:12843448-12843449	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs188137186	chr7:12843453-12843454	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552026265	chr7:12843454-12843455	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562614302	chr7:12843548-12843549	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs13244444	chr7:12843552-12843553	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548426014	chr7:12843627-12843628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552046529	chr7:12843657-12843658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534115987	chr7:12843679-12843680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566078436	chr7:12843694-12843695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566796621	chr7:12843742-12843743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10249755	chr7:12843747-12843748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558739633	chr7:12843753-12843754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180855156	chr7:12843759-12843760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538017025	chr7:12843783-12843784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368853488	chr7:12843808-12843809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185749195	chr7:12843857-12843858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113271735	chr7:12843890-12843891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534779580	chr7:12843891-12843892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536928832	chr7:12843899-12843900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574772846	chr7:12843905-12843906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61677835	chr7:12843916-12843917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540618341	chr7:12843959-12843960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138892765	chr7:12844000-12844001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530244456	chr7:12844005-12844006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531678065	chr7:12844009-12844010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190555704	chr7:12844011-12844012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12838400-12844200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:12839000-12845600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:12839800-12843000	Enhancers	Fetal Intestine Small	intestine
4	chr7:12840000-12843400	Enhancers	Fetal Intestine Large	intestine
5	chr7:12840200-12843000	Enhancers	HMEC	breast
6	chr7:12840200-12843000	Enhancers	NHEK	skin
7	chr7:12840200-12843400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:12840400-12842800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:12840600-12842800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:12841000-12842800	Enhancers	Hela-S3	cervix
11	chr7:12841000-12845000	Weak transcription	Right Atrium	heart
12	chr7:12841400-12843600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:12841600-12842800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:12842000-12842800	Enhancers	Stomach Mucosa	stomach
15	chr7:12842200-12843400	Weak transcription	Esophagus	oesophagus
16	chr7:12842400-12843200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:12842400-12844800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:12842400-12845200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:12842600-12844200	Weak transcription	K562	blood
20	chr7:12842600-12844800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:12842600-12844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:12842600-12848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:12842600-12849200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:12842800-12843000	Enhancers	A549	lung
25	chr7:12842800-12844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:12842800-12845400	Weak transcription	Hela-S3	cervix
27	chr7:12843000-12844000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:12843000-12844800	Weak transcription	NHEK	skin
29	chr7:12843000-12845000	Weak transcription	HMEC	breast
30	chr7:12843200-12843400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:12843400-12844200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:12843400-12844800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:12843400-12844800	Weak transcription	Fetal Intestine Large	intestine
34	chr7:12844000-12844200	Enhancers	Fetal Intestine Small	intestine
35	chr7:12844200-12845000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:12844200-12845200	Weak transcription	Fetal Intestine Small	intestine
37	chr7:12844200-12845200	Enhancers	K562	blood
38	chr7:12844800-12845600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:12844800-12845600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:12844800-12845600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr7:12844800-12845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:12844800-12845800	Enhancers	Fetal Intestine Large	intestine
43	chr7:12844800-12846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:12844800-12846000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:12844800-12846000	Enhancers	NHEK	skin
46	chr7:12844800-12846800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:12845000-12845800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:12845000-12845800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:12845000-12846000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:12845000-12846000	Enhancers	Cortex derived primary cultured neurospheres	brain

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