Variant report

Variant	nsv1018940
Chromosome Location	chr8:10200886-10220973
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10203991..10206007-chr8:10207098..10209172,2	K562	blood:
2	chr8:10194581..10198913-chr8:10201395..10205726,4	K562	blood:
3	chr8:10210498..10212696-chr8:10213697..10216016,2	K562	blood:
4	chr8:10210498..10212696-chr8:10213697..10216016,2	K562	blood:
5	chr8:10191950..10195260-chr8:10197828..10201461,4	MCF-7	breast:
6	chr8:10203991..10206007-chr8:10207098..10209172,2	K562	blood:
7	chr8:10215726..10218091-chr8:10220767..10222352,2	K562	blood:
8	chr8:10215726..10218091-chr8:10220767..10222352,2	K562	blood:
9	chr8:10205661..10208295-chr8:10208819..10211116,2	MCF-7	breast:
10	chr8:10200552..10204035-chr8:10205072..10206852,3	K562	blood:
11	chr8:10200552..10204035-chr8:10205072..10206852,3	K562	blood:
12	chr8:10205661..10208295-chr8:10208819..10211116,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249848	chromatin interactions

Extended variants
information (count: 1073 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11249991	chr8:10200886-10200887	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180948870	chr8:10200898-10200899	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56370093	chr8:10200916-10200917	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs386722153	chr8:10200924-10200925	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186367547	chr8:10200952-10200953	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564092976	chr8:10200959-10200960	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532922129	chr8:10200962-10200963	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549936913	chr8:10201054-10201055	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569710147	chr8:10201064-10201065	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538101075	chr8:10201070-10201071	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138861996	chr8:10201081-10201082	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368000742	chr8:10201096-10201097	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568518321	chr8:10201104-10201105	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371772522	chr8:10201113-10201114	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10903325	chr8:10201114-10201115	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566212845	chr8:10201166-10201167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561449917	chr8:10201178-10201179	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576863659	chr8:10201194-10201195	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539429706	chr8:10201202-10201203	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556429626	chr8:10201208-10201209	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192067773	chr8:10201229-10201230	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200043234	chr8:10201277-10201278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541919834	chr8:10201281-10201282	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4841323	chr8:10201359-10201360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11778030	chr8:10201364-10201365	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541352969	chr8:10201376-10201377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564357812	chr8:10201387-10201388	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372135449	chr8:10201395-10201396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532984866	chr8:10201412-10201413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114235152	chr8:10201417-10201418	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563278872	chr8:10201445-10201446	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4841324	chr8:10201532-10201533	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369421357	chr8:10201545-10201546	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568657586	chr8:10201573-10201574	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368453846	chr8:10201607-10201608	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114650862	chr8:10201611-10201612	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547715585	chr8:10201628-10201629	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142051583	chr8:10201653-10201654	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539491145	chr8:10201693-10201694	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556533452	chr8:10201710-10201711	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536742668	chr8:10201713-10201714	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576312127	chr8:10201740-10201741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377211274	chr8:10201742-10201743	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183633158	chr8:10201752-10201753	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555545880	chr8:10201824-10201825	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572303265	chr8:10201851-10201852	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376519240	chr8:10201868-10201869	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146349440	chr8:10201921-10201922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186972704	chr8:10201925-10201926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577991881	chr8:10201938-10201939	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:10192600-10282400	Weak transcription	Gastric	stomach
3	chr8:10192800-10206400	Weak transcription	Thymus	Thymus
4	chr8:10193000-10215400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
6	chr8:10193200-10203800	Weak transcription	Right Atrium	heart
7	chr8:10193400-10202400	Weak transcription	Right Ventricle	heart
8	chr8:10193600-10202800	Weak transcription	Brain Anterior Caudate	brain
9	chr8:10193600-10220400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:10196800-10208000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:10196800-10214200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:10196800-10228000	Weak transcription	Liver	Liver
13	chr8:10198400-10206400	Weak transcription	Primary T cells from cord blood	blood
14	chr8:10198800-10202000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:10199000-10201800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:10199400-10201800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:10199600-10201400	Weak transcription	Aorta	Aorta
18	chr8:10199600-10203600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:10199600-10206800	Weak transcription	Fetal Thymus	thymus
20	chr8:10199800-10201800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:10200000-10201800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:10200000-10201800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:10200000-10201800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:10200200-10201200	Enhancers	Fetal Brain Female	brain
25	chr8:10200400-10201200	Enhancers	Fetal Brain Male	brain
26	chr8:10200600-10201000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:10200600-10201000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:10200600-10201000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:10200600-10201200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:10200600-10201200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr8:10200600-10201400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:10200800-10201800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:10200800-10202400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:10200800-10207400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:10201000-10201400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:10201000-10201800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr8:10201000-10201800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:10201000-10202400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:10201200-10201600	Weak transcription	Fetal Brain Female	brain
40	chr8:10201200-10201800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:10201200-10206000	Weak transcription	Fetal Brain Male	brain
42	chr8:10201400-10201600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr8:10201600-10201800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:10201600-10201800	Enhancers	Fetal Brain Female	brain
45	chr8:10201800-10203600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:10201800-10206400	Weak transcription	Fetal Brain Female	brain
47	chr8:10201800-10206800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:10201800-10207200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:10201800-10208200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:10201800-10221800	Weak transcription	H9 Cell Line	embryonic stem cell

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