Variant report

Variant	nsv522127
Chromosome Location	chr8:10797831-10815515
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10811750..10814627-chr8:10819721..10822021,2	K562	blood:
2	chr8:10811750..10814627-chr8:10819721..10822751,3	K562	blood:
3	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:
4	chr8:10739545..10741704-chr8:10806254..10808140,2	K562	blood:
5	chr8:10785719..10786553-chr8:10802895..10803663,2	K562	blood:
6	chr8:10813776..10816525-chr8:10817526..10819399,2	K562	blood:
7	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:
8	chr14:105714581..105715085-chr8:10799411..10799911,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000184887	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 1022 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:1022 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11990550	chr8:10797831-10797832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139923166	chr8:10797841-10797842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530219703	chr8:10797890-10797891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189494394	chr8:10797895-10797896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569988497	chr8:10797903-10797904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537366415	chr8:10797919-10797920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555701274	chr8:10797994-10797995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113461752	chr8:10798011-10798012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544021358	chr8:10798045-10798046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553577938	chr8:10798052-10798053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572139766	chr8:10798084-10798085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542435751	chr8:10798095-10798096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182234208	chr8:10798097-10798098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185173100	chr8:10798106-10798107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145428763	chr8:10798130-10798131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565231124	chr8:10798148-10798149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532396626	chr8:10798151-10798152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541453835	chr8:10798189-10798190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113178122	chr8:10798253-10798254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4520127	chr8:10798255-10798256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532990942	chr8:10798261-10798262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145681023	chr8:10798270-10798271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58447625	chr8:10798306-10798307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77724127	chr8:10798309-10798310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531064087	chr8:10798310-10798311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552450162	chr8:10798381-10798382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368312266	chr8:10798403-10798404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374714608	chr8:10798425-10798426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570850515	chr8:10798426-10798427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538241291	chr8:10798495-10798496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547397904	chr8:10798502-10798503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565611347	chr8:10798519-10798520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536361848	chr8:10798560-10798561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112722099	chr8:10798562-10798563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190119244	chr8:10798587-10798588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546892987	chr8:10798618-10798619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181326586	chr8:10798663-10798664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537286952	chr8:10798683-10798684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113847268	chr8:10798693-10798694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577099462	chr8:10798694-10798695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75363286	chr8:10798716-10798717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559714767	chr8:10798775-10798776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529064067	chr8:10798823-10798824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368168159	chr8:10798825-10798826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574801673	chr8:10798826-10798827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11250093	chr8:10798828-10798829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs568416644	chr8:10798840-10798841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373616482	chr8:10798847-10798848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531000559	chr8:10798850-10798851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552388522	chr8:10798862-10798863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10795800-10805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10796000-10799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10797200-10798000	Enhancers	Spleen	Spleen
4	chr8:10797600-10807200	Weak transcription	Right Atrium	heart
5	chr8:10797800-10798000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:10798000-10798600	Weak transcription	Spleen	Spleen
7	chr8:10798600-10798800	Enhancers	Spleen	Spleen
8	chr8:10799800-10800600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10800600-10803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10800800-10801000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:10801600-10802000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:10801600-10802600	Enhancers	Fetal Muscle Leg	muscle
13	chr8:10801600-10802800	Enhancers	Fetal Heart	heart
14	chr8:10801800-10802400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:10801800-10802600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:10801800-10802600	Enhancers	HSMMtube	muscle
17	chr8:10801800-10802800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:10801800-10802800	Enhancers	Fetal Muscle Trunk	muscle
19	chr8:10802000-10802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:10802000-10802400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:10802000-10802600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:10802000-10802600	Enhancers	Right Ventricle	heart
23	chr8:10802000-10802800	Enhancers	Left Ventricle	heart
24	chr8:10802400-10802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:10802800-10806400	Weak transcription	Fetal Heart	heart
26	chr8:10803400-10803600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:10803600-10805800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:10804000-10804200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr8:10804400-10804800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr8:10805200-10807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:10805800-10806000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:10805800-10806000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr8:10805800-10808000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:10806000-10806600	Enhancers	Fetal Muscle Leg	muscle
35	chr8:10806000-10807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:10806000-10807000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr8:10806400-10806800	Enhancers	Fetal Heart	heart
38	chr8:10807000-10807400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:10807000-10807800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:10807200-10808000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:10807400-10807600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:10807400-10808200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:10807400-10818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:10807600-10807800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:10808000-10808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:10808000-10809200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:10808200-10808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:10808600-10809800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:10808800-10810400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:10809200-10809800	Enhancers	H1 Cell Line	embryonic stem cell

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