Variant report

Variant	nsv1024779
Chromosome Location	chr7:26111703-26162200
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:102)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:26131775..26133485-chr7:26328887..26331564,2	K562	blood:
2	chr7:26149919..26152511-chr7:26155274..26157717,3	K562	blood:
3	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
4	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:
5	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
6	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
7	chr7:26129244..26131736-chr7:26219781..26221965,2	K562	blood:
8	chr7:26152455..26156873-chr7:26226826..26229761,5	K562	blood:
9	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
10	chr7:26118648..26123140-chr7:26237417..26242169,5	K562	blood:
11	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
12	chr7:26149919..26152511-chr7:26155274..26157717,3	K562	blood:
13	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
14	chr7:26123460..26125747-chr7:26131738..26134099,3	K562	blood:
15	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
16	chr7:26126305..26129045-chr7:26235519..26238243,2	MCF-7	breast:
17	chr7:26154735..26157147-chr7:26157235..26160704,3	K562	blood:
18	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
19	chr7:26112064..26114800-chr7:26118641..26120981,2	K562	blood:
20	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
21	chr7:26146073..26148941-chr7:26224609..26227830,4	K562	blood:
22	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
23	chr7:26111985..26114950-chr7:26225900..26229450,4	K562	blood:
24	chr7:26120079..26121816-chr7:26128176..26130468,2	K562	blood:
25	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
26	chr7:26126519..26129493-chr7:26238695..26242874,4	K562	blood:
27	chr7:26127526..26133053-chr7:26238305..26241600,7	MCF-7	breast:
28	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:
29	chr7:26117592..26119094-chr7:26231606..26233177,2	MCF-7	breast:
30	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
31	chr7:26159263..26161124-chr7:26165341..26167327,2	MCF-7	breast:
32	chr7:26110644..26115952-chr7:26225900..26230055,7	K562	blood:
33	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
34	chr7:26108042..26110669-chr7:26111318..26113129,2	K562	blood:
35	chr7:26122079..26124239-chr7:26127253..26128768,2	MCF-7	breast:
36	chr7:26155883..26157499-chr7:26239011..26240602,2	MCF-7	breast:
37	chr7:26125058..26127925-chr7:26238815..26242707,3	MCF-7	breast:
38	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
39	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
40	chr7:26119926..26122266-chr7:26227984..26229588,2	MCF-7	breast:
41	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
42	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
43	chr7:26122904..26124526-chr7:26129160..26131846,3	MCF-7	breast:
44	chr7:26130393..26131271-chr7:26404507..26405104,2	K562	blood:
45	chr7:26122863..26125751-chr7:26125996..26128926,3	K562	blood:
46	chr7:26109451..26111180-chr7:26113272..26116179,2	MCF-7	breast:
47	chr7:26111175..26113730-chr7:26115998..26118801,2	MCF-7	breast:
48	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
49	chr7:26154961..26157764-chr7:26173715..26175460,2	MCF-7	breast:
50	chr7:26154735..26157147-chr7:26157235..26160704,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPA2B1-2	chr7:26112307-26112316	XLOC_006385
2	lnc-HNRNPA2B1-9	chr7:26136736-26136923	l_3383_chr7:26064190-26136923_testes
3	lnc-HNRNPA2B1-9	chr7:26134420-26134615	l_3383_chr7:26064190-26136923_testes

No data

Variant related genes	Relation type
ENSG00000086300	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000199085	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000050344	chromatin interactions
ZNF700	miRNA target sites

Extended variants
information (count: 1766 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1766 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11982373	chr7:26111703-26111704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535388914	chr7:26111718-26111719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555176379	chr7:26111770-26111771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377083206	chr7:26111798-26111799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575385800	chr7:26111858-26111859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201911340	chr7:26111881-26111882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17153170	chr7:26111882-26111883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557624105	chr7:26111921-26111922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190765949	chr7:26111943-26111944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546217628	chr7:26112044-26112045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34043363	chr7:26112046-26112047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182815418	chr7:26112087-26112088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368813344	chr7:26112089-26112090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528437972	chr7:26112183-26112184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566768819	chr7:26112238-26112239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6954094	chr7:26112264-26112265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530945716	chr7:26112352-26112353	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11982530	chr7:26112362-26112363	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563987966	chr7:26112444-26112445	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532953340	chr7:26112482-26112483	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75045831	chr7:26112522-26112523	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76657233	chr7:26112523-26112524	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76360073	chr7:26112524-26112525	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187014586	chr7:26112563-26112564	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147630186	chr7:26112575-26112576	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368048101	chr7:26112576-26112577	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75864517	chr7:26112608-26112609	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530887731	chr7:26112652-26112653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548932347	chr7:26112748-26112749	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141999794	chr7:26112805-26112806	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568857737	chr7:26112821-26112822	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537969827	chr7:26112887-26112888	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533774591	chr7:26112911-26112912	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555521913	chr7:26112934-26112935	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114009844	chr7:26113091-26113092	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6959202	chr7:26113132-26113133	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539972755	chr7:26113167-26113168	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567669060	chr7:26113171-26113172	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190650057	chr7:26113188-26113189	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551101475	chr7:26113197-26113198	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs33964258	chr7:26113198-26113199	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10636264	chr7:26113201-26113202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200781932	chr7:26113202-26113203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538309279	chr7:26113204-26113205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376498806	chr7:26113218-26113219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573448711	chr7:26113223-26113224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182937281	chr7:26113237-26113238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542141565	chr7:26113259-26113260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187958411	chr7:26113312-26113313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145761399	chr7:26113319-26113320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	18852474	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26110600-26113000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:26111400-26112200	Enhancers	Adipose Nuclei	Adipose
3	chr7:26111400-26112800	Enhancers	Fetal Lung	lung
4	chr7:26111400-26113000	Enhancers	Fetal Stomach	stomach
5	chr7:26111800-26113200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:26112000-26113200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:26112200-26112600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:26112200-26113000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:26112200-26113200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:26112200-26113200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:26112200-26113200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:26112200-26113200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:26112200-26113400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:26112400-26113200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:26112400-26113200	Enhancers	Thymus	Thymus
16	chr7:26112600-26112800	Enhancers	K562	blood
17	chr7:26112600-26113000	Enhancers	Fetal Thymus	thymus
18	chr7:26112600-26113000	Flanking Active TSS	HepG2	liver
19	chr7:26112600-26113200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:26112600-26118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:26112800-26113000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:26112800-26113200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:26113000-26113200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:26113000-26114000	Enhancers	HepG2	liver
25	chr7:26113000-26118000	Weak transcription	Fetal Thymus	thymus
26	chr7:26113200-26118400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:26113200-26118400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:26113200-26118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:26113200-26118400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:26113200-26118400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:26113200-26118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:26113200-26118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:26113400-26114600	Weak transcription	K562	blood
34	chr7:26113400-26118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:26114000-26114400	Weak transcription	HepG2	liver
36	chr7:26114400-26115600	Enhancers	HepG2	liver
37	chr7:26114600-26115000	Enhancers	Fetal Intestine Small	intestine
38	chr7:26114600-26115000	Enhancers	K562	blood
39	chr7:26114800-26117000	Enhancers	Fetal Intestine Large	intestine
40	chr7:26115000-26116200	Weak transcription	Fetal Intestine Small	intestine
41	chr7:26115600-26118800	Weak transcription	HepG2	liver
42	chr7:26116200-26117000	Enhancers	Fetal Intestine Small	intestine
43	chr7:26116600-26116800	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:26116600-26116800	Bivalent Enhancer	Small Intestine	intestine
45	chr7:26117000-26118000	Weak transcription	Fetal Intestine Large	intestine
46	chr7:26117000-26118200	Weak transcription	Fetal Intestine Small	intestine
47	chr7:26118000-26118600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr7:26118000-26118800	Active TSS	Rectal Smooth Muscle	rectum
49	chr7:26118000-26118800	Bivalent Enhancer	Dnd41	blood
50	chr7:26118000-26119000	Bivalent Enhancer	Fetal Stomach	stomach

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