Variant report

Variant	nsv521721
Chromosome Location	chr8:10802102-10836472
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:
2	chr8:10785773..10786613-chr8:10826278..10826960,2	MCF-7	breast:
3	chr8:10813776..10816525-chr8:10817526..10819399,2	K562	blood:
4	chr8:10787098..10789727-chr8:10819770..10822042,2	K562	blood:
5	chr8:10811750..10814627-chr8:10819721..10822751,3	K562	blood:
6	chr8:10811750..10814627-chr8:10819721..10822751,3	K562	blood:
7	chr8:10785719..10786553-chr8:10802895..10803663,2	K562	blood:
8	chr8:10785658..10786600-chr8:10834375..10835298,4	MCF-7	breast:
9	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:
10	chr8:10813776..10816525-chr8:10817526..10819399,2	K562	blood:
11	chr8:10784899..10786604-chr8:10834371..10835572,13	MCF-7	breast:
12	chr8:10785251..10786661-chr8:10833873..10835317,10	K562	blood:
13	chr8:10739545..10741704-chr8:10806254..10808140,2	K562	blood:
14	chr8:10811750..10814627-chr8:10819721..10822021,2	K562	blood:
15	chr8:10811750..10814627-chr8:10819721..10822021,2	K562	blood:

No data

Extended variants
information (count: 2065 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:2065 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6988281	chr8:10802102-10802103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140768704	chr8:10802120-10802121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554901318	chr8:10802123-10802124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368919236	chr8:10802141-10802142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386722219	chr8:10802146-10802147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35077714	chr8:10802147-10802148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187591645	chr8:10802177-10802178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13280540	chr8:10802199-10802200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553948984	chr8:10802200-10802201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572329158	chr8:10802207-10802208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191962353	chr8:10802211-10802212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183033897	chr8:10802231-10802232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576494428	chr8:10802233-10802234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142355175	chr8:10802240-10802241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73537303	chr8:10802251-10802252	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76077335	chr8:10802286-10802287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369809452	chr8:10802290-10802291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545960186	chr8:10802298-10802299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564617954	chr8:10802313-10802314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559904031	chr8:10802315-10802316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530281518	chr8:10802330-10802331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151298291	chr8:10802385-10802386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570050886	chr8:10802401-10802402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537429685	chr8:10802413-10802414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549772988	chr8:10802432-10802433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540465409	chr8:10802445-10802446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190128112	chr8:10802460-10802461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182426151	chr8:10802467-10802468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538736939	chr8:10802511-10802512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140565007	chr8:10802559-10802560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373967832	chr8:10802576-10802577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572268157	chr8:10802588-10802589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536490737	chr8:10802593-10802594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570729851	chr8:10802597-10802598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187637923	chr8:10802633-10802634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376652220	chr8:10802640-10802641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369787408	chr8:10802653-10802654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546729405	chr8:10802656-10802657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192780622	chr8:10802679-10802680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553674950	chr8:10802721-10802722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565295095	chr8:10802722-10802723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577224526	chr8:10802731-10802732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373734719	chr8:10802738-10802739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541517183	chr8:10802779-10802780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117772541	chr8:10802783-10802784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116484017	chr8:10802784-10802785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150057282	chr8:10802791-10802792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563613662	chr8:10802792-10802793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531128625	chr8:10802794-10802795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4551305	chr8:10802802-10802803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:140)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	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
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10795800-10805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10797600-10807200	Weak transcription	Right Atrium	heart
3	chr8:10800600-10803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10801600-10802600	Enhancers	Fetal Muscle Leg	muscle
5	chr8:10801600-10802800	Enhancers	Fetal Heart	heart
6	chr8:10801800-10802400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10801800-10802600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:10801800-10802600	Enhancers	HSMMtube	muscle
9	chr8:10801800-10802800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:10801800-10802800	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:10802000-10802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:10802000-10802400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:10802000-10802600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:10802000-10802600	Enhancers	Right Ventricle	heart
15	chr8:10802000-10802800	Enhancers	Left Ventricle	heart
16	chr8:10802400-10802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10802800-10806400	Weak transcription	Fetal Heart	heart
18	chr8:10803400-10803600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:10803600-10805800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10804000-10804200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr8:10804400-10804800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr8:10805200-10807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:10805800-10806000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:10805800-10806000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:10805800-10808000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:10806000-10806600	Enhancers	Fetal Muscle Leg	muscle
27	chr8:10806000-10807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:10806000-10807000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr8:10806400-10806800	Enhancers	Fetal Heart	heart
30	chr8:10807000-10807400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:10807000-10807800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:10807200-10808000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:10807400-10807600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:10807400-10808200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:10807400-10818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:10807600-10807800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:10808000-10808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:10808000-10809200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:10808200-10808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:10808600-10809800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:10808800-10810400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:10809200-10809800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:10810400-10818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:10814000-10815000	Enhancers	Fetal Brain Male	brain
45	chr8:10814600-10815200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr8:10814800-10815200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr8:10814800-10815400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:10815000-10817600	Weak transcription	Fetal Brain Male	brain
49	chr8:10815000-10820800	Enhancers	Fetal Muscle Leg	muscle
50	chr8:10815200-10816800	Enhancers	Fetal Muscle Trunk	muscle

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