Variant report

Variant	nsv1023459
Chromosome Location	chr8:21023591-21042178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:21039519..21041986-chr8:21043567..21045082,2	K562	blood:
2	chr8:20940533..20944455-chr8:21040696..21044387,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GFRA2-6	chr8:21030675-21030922	l_3557_chr8:20853997-20856467_brain

Extended variants
information (count: 956 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:956 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553861360	chr8:21023602-21023603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9942803	chr8:21023618-21023619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112534257	chr8:21023628-21023629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547183498	chr8:21023684-21023685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565817911	chr8:21023695-21023696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367559428	chr8:21023717-21023718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539518790	chr8:21023751-21023752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117308242	chr8:21023791-21023792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189605327	chr8:21023852-21023853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181095485	chr8:21023856-21023857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564938603	chr8:21023880-21023881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537010952	chr8:21023881-21023882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111498139	chr8:21023883-21023884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143755917	chr8:21023895-21023896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1010604	chr8:21023896-21023897	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375038558	chr8:21023936-21023937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75300166	chr8:21023940-21023941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550902409	chr8:21023971-21023972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552724799	chr8:21023997-21023998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112340387	chr8:21024013-21024014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577760129	chr8:21024031-21024032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34027912	chr8:21024042-21024043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562824877	chr8:21024118-21024119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563760986	chr8:21024177-21024178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575555396	chr8:21024211-21024212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368368101	chr8:21024219-21024220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1010603	chr8:21024222-21024223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561441781	chr8:21024234-21024235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117086392	chr8:21024262-21024263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567019119	chr8:21024271-21024272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181531378	chr8:21024282-21024283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76346686	chr8:21024330-21024331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551198299	chr8:21024340-21024341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569703999	chr8:21024359-21024360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186506162	chr8:21024379-21024380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73625618	chr8:21024380-21024381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546672986	chr8:21024454-21024455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76273947	chr8:21024455-21024456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534597646	chr8:21024457-21024458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192153842	chr8:21024505-21024506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182615146	chr8:21024506-21024507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374202492	chr8:21024525-21024526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538777449	chr8:21024531-21024532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116744066	chr8:21024587-21024588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575661005	chr8:21024592-21024593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146556245	chr8:21024599-21024600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138992465	chr8:21024614-21024615	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs187695986	chr8:21024629-21024630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs573627372	chr8:21024686-21024687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540918669	chr8:21024703-21024704	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:21020000-21027200	Enhancers	Fetal Intestine Small	intestine
2	chr8:21020200-21024000	Enhancers	Fetal Intestine Large	intestine
3	chr8:21020200-21026000	Weak transcription	Spleen	Spleen
4	chr8:21020800-21024600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:21020800-21024800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr8:21020800-21025000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr8:21021000-21023600	Enhancers	Colonic Mucosa	Colon
8	chr8:21021600-21023600	Enhancers	Fetal Brain Male	brain
9	chr8:21021600-21024000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:21021800-21024000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:21022000-21024000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:21022200-21023600	Enhancers	Fetal Thymus	thymus
13	chr8:21022200-21024000	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:21022800-21023600	Enhancers	Fetal Brain Female	brain
15	chr8:21023000-21026400	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:21023200-21023800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:21023400-21024200	Enhancers	Psoas Muscle	Psoas
18	chr8:21023600-21024200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:21023600-21024600	Weak transcription	Colonic Mucosa	Colon
20	chr8:21023600-21026400	Weak transcription	Fetal Brain Male	brain
21	chr8:21023600-21026400	Weak transcription	Fetal Brain Female	brain
22	chr8:21023600-21027000	Weak transcription	Fetal Thymus	thymus
23	chr8:21024000-21025000	Weak transcription	Fetal Intestine Large	intestine
24	chr8:21024000-21026800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:21024000-21026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:21024000-21026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:21024000-21027200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:21024600-21024800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr8:21024600-21028200	Enhancers	Colonic Mucosa	Colon
30	chr8:21024800-21025200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:21024800-21026000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:21025000-21025200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr8:21025000-21027200	Enhancers	Fetal Intestine Large	intestine
34	chr8:21025200-21025400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr8:21025200-21025600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr8:21025200-21025800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:21025400-21025600	Bivalent Enhancer	Esophagus	oesophagus
38	chr8:21025400-21025600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:21025600-21026600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:21025800-21026000	Enhancers	Right Ventricle	heart
41	chr8:21025800-21026200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr8:21026000-21026400	ZNF genes & repeats	Spleen	Spleen
43	chr8:21026000-21026600	Enhancers	Left Ventricle	heart
44	chr8:21026000-21027000	Weak transcription	Right Ventricle	heart
45	chr8:21026000-21028600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:21026200-21026400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr8:21026400-21026600	Weak transcription	Lung	lung
48	chr8:21026400-21026600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:21026400-21027000	Weak transcription	Spleen	Spleen
50	chr8:21026400-21027200	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links