Variant report

Variant	esv992861
Chromosome Location	chr10:99298852-99305974
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99256059..99259971-chr10:99300252..99304004,11	MCF-7	breast:
2	chr10:99297536..99299525-chr10:99302249..99303762,2	MCF-7	breast:
3	chr10:99204024..99206698-chr10:99300506..99302112,2	MCF-7	breast:
4	chr10:99298137..99300363-chr10:99331501..99333055,2	MCF-7	breast:
5	chr10:99297536..99299525-chr10:99302249..99303762,2	MCF-7	breast:
6	chr10:99300462..99303898-chr10:99329826..99332488,8	MCF-7	breast:
7	chr10:99222672..99224790-chr10:99301444..99303032,2	MCF-7	breast:
8	chr10:99204676..99206616-chr10:99299174..99301378,2	MCF-7	breast:
9	chr10:99303622..99306407-chr10:99309864..99312001,2	K562	blood:
10	chr10:99298484..99301202-chr10:99302783..99304402,2	MCF-7	breast:
11	chr10:99300634..99304686-chr10:99330230..99333325,5	MCF-7	breast:
12	chr10:99275210..99277389-chr10:99300331..99302181,2	MCF-7	breast:
13	chr10:99297050..99299012-chr10:99300542..99302143,2	MCF-7	breast:
14	chr10:99299652..99304961-chr10:99307189..99311108,10	MCF-7	breast:
15	chr10:99296911..99299412-chr10:99301338..99303433,2	K562	blood:
16	chr10:99301268..99303688-chr10:99312791..99314821,3	MCF-7	breast:
17	chr10:99258307..99260062-chr10:99297196..99299410,2	MCF-7	breast:
18	chr10:99296427..99298411-chr10:99301933..99303987,2	K562	blood:
19	chr10:99295454..99297833-chr10:99302850..99305384,2	MCF-7	breast:
20	chr10:99288750..99291143-chr10:99301999..99304983,2	MCF-7	breast:
21	chr10:99255227..99260148-chr10:99300104..99304804,10	MCF-7	breast:
22	chr10:99297050..99299012-chr10:99300542..99302143,2	MCF-7	breast:
23	chr10:99293705..99296189-chr10:99297526..99301633,5	MCF-7	breast:
24	chr10:99298484..99301202-chr10:99302783..99304402,2	MCF-7	breast:
25	chr10:99296911..99299412-chr10:99301338..99303433,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171311	chromatin interactions
ENSG00000165887	chromatin interactions
ENSG00000171307	chromatin interactions
ENSG00000165886	chromatin interactions
ENSG00000155229	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542273210	chr10:99298870-99298871	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs377061397	chr10:99298934-99298935	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs145867274	chr10:99298955-99298956	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs11818725	chr10:99298957-99298958	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs192706451	chr10:99298968-99298969	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs184454891	chr10:99298993-99298994	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565164479	chr10:99299001-99299002	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532338604	chr10:99299011-99299012	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs550908944	chr10:99299014-99299015	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs190573813	chr10:99299019-99299020	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs536451832	chr10:99299062-99299063	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559945676	chr10:99299079-99299080	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs567009480	chr10:99299156-99299157	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs182181329	chr10:99299198-99299199	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs558718995	chr10:99299206-99299207	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs532273813	chr10:99299229-99299230	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs538129691	chr10:99299255-99299256	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs556444219	chr10:99299283-99299284	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs552096257	chr10:99299308-99299309	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs184414606	chr10:99299312-99299313	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs189073718	chr10:99299321-99299322	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs1111831	chr10:99299330-99299331	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572880358	chr10:99299331-99299332	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs540208731	chr10:99299352-99299353	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs79068641	chr10:99299353-99299354	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs564691539	chr10:99299434-99299435	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs144541572	chr10:99299441-99299442	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544470717	chr10:99299464-99299465	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562778551	chr10:99299469-99299470	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs11189270	chr10:99299480-99299481	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547941957	chr10:99299525-99299526	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs10882957	chr10:99299542-99299543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148493501	chr10:99299565-99299566	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs552663018	chr10:99299570-99299571	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs570710999	chr10:99299624-99299625	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs537860427	chr10:99299690-99299691	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs202042458	chr10:99299693-99299694	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs138710955	chr10:99299695-99299696	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs367848875	chr10:99299696-99299697	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs67973457	chr10:99299697-99299698	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs556430564	chr10:99299708-99299709	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs181110124	chr10:99299712-99299713	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs535631999	chr10:99299753-99299754	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs35827216	chr10:99299776-99299777	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs1107518	chr10:99299860-99299861	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368870388	chr10:99299959-99299960	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs1107517	chr10:99299991-99299992	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141775214	chr10:99300114-99300115	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs558621175	chr10:99300146-99300147	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs539298518	chr10:99300172-99300173	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	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
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99277800-99301800	Weak transcription	Gastric	stomach
2	chr10:99278000-99302600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr10:99278400-99301800	Weak transcription	Spleen	Spleen
4	chr10:99278600-99300200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:99281400-99302200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:99282200-99301800	Weak transcription	Pancreas	Pancrea
7	chr10:99282800-99299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:99286200-99299200	Weak transcription	Ovary	ovary
9	chr10:99290000-99299400	Weak transcription	Right Ventricle	heart
10	chr10:99293200-99301800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:99293400-99299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:99293400-99299600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr10:99293400-99300400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:99294400-99301800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:99294800-99299400	Weak transcription	Esophagus	oesophagus
16	chr10:99295000-99299400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:99295200-99299600	Weak transcription	K562	blood
18	chr10:99295400-99302400	Weak transcription	Fetal Intestine Small	intestine
19	chr10:99296400-99299600	Weak transcription	Fetal Stomach	stomach
20	chr10:99297000-99300400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:99297200-99300000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:99297200-99303600	Enhancers	Placenta	Placenta
23	chr10:99297400-99299400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:99297400-99300800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:99297400-99302200	Enhancers	HSMMtube	muscle
26	chr10:99297800-99300000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:99297800-99300800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:99297800-99301600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:99297800-99301800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr10:99297800-99301800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:99297800-99301800	Enhancers	Osteobl	bone
32	chr10:99297800-99302800	Enhancers	NH-A	brain
33	chr10:99298200-99299400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:99298200-99300000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:99298200-99300400	Enhancers	NHEK	skin
36	chr10:99298200-99301200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:99298200-99301800	Enhancers	A549	lung
38	chr10:99298200-99301800	Enhancers	HSMM	muscle
39	chr10:99298200-99301800	Enhancers	NHDF-Ad	bronchial
40	chr10:99298200-99301800	Enhancers	NHLF	lung
41	chr10:99298200-99302400	Enhancers	HMEC	breast
42	chr10:99298200-99302600	Enhancers	Adipose Nuclei	Adipose
43	chr10:99298200-99302800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr10:99298200-99302800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr10:99298200-99302800	Enhancers	HUVEC	blood vessel
46	chr10:99298200-99304200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:99298200-99304200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:99298200-99304200	Enhancers	Brain Hippocampus Middle	brain
49	chr10:99298400-99300800	Enhancers	Brain Cingulate Gyrus	brain
50	chr10:99298400-99302800	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links