Variant report

Variant	esv3335661
Chromosome Location	chr10:94283272-94285320
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	chr10:94280636..94284278-chr10:94349670..94353388,3	K562	blood:

Variant related genes	Relation type
ENSG00000138160	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35361515	chr10:94283290-94283291	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs397822988	chr10:94283308-94283309	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565188689	chr10:94283340-94283341	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11187045	chr10:94283369-94283370	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78433005	chr10:94283404-94283405	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191927652	chr10:94283436-94283437	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183719851	chr10:94283450-94283451	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561992645	chr10:94283459-94283460	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74263178	chr10:94283476-94283477	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549047620	chr10:94283487-94283488	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117365479	chr10:94283503-94283504	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138198363	chr10:94283593-94283594	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551562063	chr10:94283598-94283599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143679829	chr10:94283647-94283648	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553448171	chr10:94283723-94283724	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77651887	chr10:94283767-94283768	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189059896	chr10:94283769-94283770	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574753583	chr10:94283773-94283774	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189550757	chr10:94283832-94283833	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150564295	chr10:94283844-94283845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536541594	chr10:94283890-94283891	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs72385771	chr10:94283901-94283902	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35296767	chr10:94283903-94283904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556632813	chr10:94283906-94283907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112646654	chr10:94283980-94283981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114905526	chr10:94283998-94283999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11187046	chr10:94284001-94284002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112100707	chr10:94284019-94284020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139550538	chr10:94284069-94284070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199511129	chr10:94284072-94284073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs55959938	chr10:94284076-94284077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs59594093	chr10:94284077-94284078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541567487	chr10:94284083-94284084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs60020720	chr10:94284086-94284087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186816898	chr10:94284101-94284102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77523532	chr10:94284105-94284106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11813097	chr10:94284108-94284109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10882075	chr10:94284114-94284115	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs57975380	chr10:94284120-94284121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71485918	chr10:94284121-94284122	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs68036914	chr10:94284128-94284129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71028824	chr10:94284130-94284131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56843880	chr10:94284137-94284138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11187047	chr10:94284141-94284142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11187048	chr10:94284147-94284148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191588720	chr10:94284148-94284149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11187049	chr10:94284149-94284150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11187050	chr10:94284155-94284156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11187051	chr10:94284163-94284164	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11187052	chr10:94284170-94284171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94244000-94303000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:94250200-94289400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:94250200-94295200	Weak transcription	Pancreas	Pancrea
4	chr10:94250200-94297200	Weak transcription	Brain Germinal Matrix	brain
5	chr10:94250200-94313800	Weak transcription	Brain Substantia Nigra	brain
6	chr10:94250400-94301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:94250400-94307400	Weak transcription	Spleen	Spleen
8	chr10:94252600-94302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:94257600-94289400	Weak transcription	Right Ventricle	heart
10	chr10:94259400-94289000	Weak transcription	NH-A	brain
11	chr10:94260000-94296800	Weak transcription	Esophagus	oesophagus
12	chr10:94262000-94289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:94262000-94297600	Weak transcription	Psoas Muscle	Psoas
14	chr10:94262000-94307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:94264200-94295000	Weak transcription	Small Intestine	intestine
16	chr10:94265800-94290400	Weak transcription	Osteobl	bone
17	chr10:94267600-94297400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:94267600-94314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
20	chr10:94268000-94313800	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:94268000-94313800	Weak transcription	NHLF	lung
22	chr10:94268600-94290800	Weak transcription	Fetal Lung	lung
23	chr10:94268600-94295200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:94268600-94300000	Weak transcription	Colonic Mucosa	Colon
25	chr10:94268800-94290000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:94269000-94290200	Weak transcription	Fetal Kidney	kidney
27	chr10:94269400-94314000	Weak transcription	Aorta	Aorta
28	chr10:94269600-94287400	Weak transcription	Fetal Intestine Small	intestine
29	chr10:94269600-94289200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:94269600-94289200	Weak transcription	Fetal Stomach	stomach
31	chr10:94269600-94314000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:94269800-94290000	Weak transcription	Ovary	ovary
33	chr10:94269800-94295000	Weak transcription	Lung	lung
34	chr10:94270000-94289200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr10:94270200-94289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:94272000-94286200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:94272000-94288800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:94272000-94317200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr10:94272200-94288600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:94272200-94288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:94272200-94288800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr10:94272200-94289000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:94272200-94289000	Weak transcription	NHEK	skin
44	chr10:94272200-94289200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:94272200-94289200	Weak transcription	Left Ventricle	heart
46	chr10:94272200-94289400	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:94272200-94289400	Weak transcription	HepG2	liver
48	chr10:94272200-94289600	Weak transcription	Fetal Thymus	thymus
49	chr10:94272200-94289600	Weak transcription	Thymus	Thymus
50	chr10:94272200-94291000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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