Variant report

Variant	nsv1027246
Chromosome Location	chr8:9852712-9882476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9876744..9878781-chr8:9911120..9914039,2	K562	blood:
2	chr8:9859284..9862073-chr8:9868514..9870369,2	K562	blood:
3	chr8:9859284..9862073-chr8:9868514..9870369,2	K562	blood:

Variant related genes	Relation type
ENSG00000260093	chromatin interactions
ENSG00000175806	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183233078	chr8:9852785-9852786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189055880	chr8:9852823-9852824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17737587	chr8:9852825-9852826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs34244806	chr8:9852849-9852850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80134250	chr8:9852859-9852860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73537260	chr8:9852861-9852862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565518178	chr8:9852872-9852873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77073845	chr8:9852878-9852879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78668745	chr8:9852907-9852908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549797017	chr8:9852917-9852918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567505781	chr8:9852918-9852919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75697727	chr8:9852923-9852924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35415101	chr8:9852961-9852962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553610787	chr8:9852966-9852967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36049399	chr8:9852982-9852983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139333039	chr8:9852993-9852994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192842152	chr8:9853053-9853054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538784829	chr8:9853064-9853065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573742234	chr8:9853151-9853152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368492773	chr8:9853176-9853177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568761650	chr8:9853192-9853193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537706153	chr8:9853217-9853218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1553665	chr8:9853268-9853269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569279832	chr8:9853295-9853296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141584188	chr8:9853319-9853320	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574318368	chr8:9853346-9853347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150502854	chr8:9853420-9853421	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558263699	chr8:9853433-9853434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577677881	chr8:9853471-9853472	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs138384885	chr8:9853487-9853488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185436214	chr8:9853596-9853597	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187905444	chr8:9853617-9853618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565431218	chr8:9853634-9853635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575804393	chr8:9853697-9853698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573082951	chr8:9853714-9853715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544541477	chr8:9853753-9853754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193008916	chr8:9853777-9853778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35714584	chr8:9853798-9853799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs666079	chr8:9853853-9853854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183599673	chr8:9853860-9853861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76349117	chr8:9853867-9853868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78648757	chr8:9853868-9853869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74744278	chr8:9853869-9853870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76505190	chr8:9853871-9853872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149261133	chr8:9853889-9853890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532469578	chr8:9853890-9853891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552259583	chr8:9853940-9853941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74384928	chr8:9853971-9853972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538060970	chr8:9853979-9853980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574005773	chr8:9853992-9853993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9842400-9855000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9852800-9853200	Enhancers	HSMMtube	muscle
3	chr8:9853000-9853600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:9853000-9853800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:9853000-9853800	Enhancers	A549	lung
6	chr8:9853200-9853600	Enhancers	Duodenum Mucosa	Duodenum
7	chr8:9853200-9853600	Enhancers	Small Intestine	intestine
8	chr8:9853200-9853600	Flanking Active TSS	HSMMtube	muscle
9	chr8:9853400-9853600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:9853400-9854000	Enhancers	HSMM	muscle
11	chr8:9853600-9854000	Enhancers	HSMMtube	muscle
12	chr8:9854800-9855000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:9854800-9855000	Bivalent Enhancer	Right Ventricle	heart
14	chr8:9855000-9855200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:9855000-9855200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr8:9855000-9856000	Enhancers	Fetal Brain Male	brain
17	chr8:9855200-9855600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:9855400-9855600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr8:9857200-9857400	Enhancers	Fetal Brain Male	brain
20	chr8:9867600-9870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:9870000-9871600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:9870200-9871000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:9870600-9870800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:9870600-9870800	Bivalent Enhancer	Esophagus	oesophagus
25	chr8:9872200-9874600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:9872400-9873200	Enhancers	HMEC	breast
27	chr8:9872600-9873000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:9872600-9873200	Enhancers	NHEK	skin
29	chr8:9880600-9881000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:9880600-9881000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:9880600-9881000	Enhancers	HMEC	breast

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