Variant report

Variant	esv1848511
Chromosome Location	chr10:28373644-28464753
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:28387058..28389693-chr6:27776467..27779114,2	MCF-7	breast:
2	chr10:28406473..28409563-chr10:28410652..28413187,3	MCF-7	breast:
3	chr10:28384110..28385653-chr10:28390069..28392151,2	MCF-7	breast:
4	chr10:28397069..28398753-chr10:28400190..28402343,2	K562	blood:
5	chr10:28364402..28367665-chr10:28377622..28380231,3	MCF-7	breast:
6	chr10:28384110..28385653-chr10:28390069..28392151,2	MCF-7	breast:
7	chr10:28406473..28409563-chr10:28410652..28413187,3	MCF-7	breast:
8	chr10:28415197..28416716-chr10:28418291..28420406,2	K562	blood:
9	chr10:28433533..28435848-chr10:28435858..28437751,2	K562	blood:
10	chr10:28372312..28376657-chr10:28391120..28396968,5	K562	blood:
11	chr10:28397069..28398753-chr10:28400190..28402343,2	K562	blood:
12	chr10:28372312..28376657-chr10:28391120..28396968,5	K562	blood:
13	chr10:28072579..28073216-chr10:28423957..28424714,2	MCF-7	breast:
14	chr10:28415197..28416716-chr10:28418291..28420406,2	K562	blood:
15	chr10:28439899..28442223-chr10:28443873..28446166,2	MCF-7	breast:
16	chr10:28439899..28442223-chr10:28443873..28446166,2	MCF-7	breast:
17	chr10:28433533..28435848-chr10:28435858..28437751,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203813	chromatin interactions
ENSG00000251810	chromatin interactions

Extended variants
information (count: 3404 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:3404 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386742311	chr10:28373644-28373645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544074080	chr10:28373646-28373647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562421253	chr10:28373656-28373657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577655466	chr10:28373678-28373679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143197078	chr10:28373680-28373681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374867167	chr10:28373726-28373727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527742408	chr10:28373737-28373738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12259120	chr10:28373788-28373789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549568547	chr10:28373823-28373824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10763639	chr10:28373857-28373858	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531917176	chr10:28373871-28373872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73606050	chr10:28373882-28373883	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192038977	chr10:28373903-28373904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77593096	chr10:28373904-28373905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551045037	chr10:28373931-28373932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566572418	chr10:28373955-28373956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73606051	chr10:28373966-28373967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377631885	chr10:28373973-28373974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370115412	chr10:28373974-28373975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36033042	chr10:28374091-28374092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555560550	chr10:28374096-28374097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371081194	chr10:28374114-28374115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537292308	chr10:28374138-28374139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573528953	chr10:28374245-28374246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183924202	chr10:28374252-28374253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537634014	chr10:28374259-28374260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556085046	chr10:28374263-28374264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577467822	chr10:28374283-28374284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545010503	chr10:28374329-28374330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76540768	chr10:28374368-28374369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374807410	chr10:28374429-28374430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146661118	chr10:28374438-28374439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188416478	chr10:28374450-28374451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561416174	chr10:28374460-28374461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531980878	chr10:28374479-28374480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555830136	chr10:28374480-28374481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550397522	chr10:28374514-28374515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369271816	chr10:28374562-28374563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12266476	chr10:28374604-28374605	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs532816925	chr10:28374628-28374629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34223647	chr10:28374641-28374642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551374492	chr10:28374677-28374678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566318531	chr10:28374691-28374692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533762207	chr10:28374740-28374741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548840820	chr10:28374755-28374756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59082756	chr10:28374784-28374785	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs193018284	chr10:28374831-28374832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555899286	chr10:28374852-28374853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373542777	chr10:28374880-28374881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571222271	chr10:28374881-28374882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28341200-28377600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:28346200-28375400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:28347000-28375200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:28347000-28380400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:28347000-28381000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:28347000-28412200	Weak transcription	Left Ventricle	heart
7	chr10:28347000-28414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:28347400-28374600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:28347400-28377000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:28347400-28377200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:28348000-28381200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:28349400-28376600	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:28357200-28380200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:28364600-28375600	Weak transcription	Esophagus	oesophagus
15	chr10:28364600-28375600	Weak transcription	Fetal Stomach	stomach
16	chr10:28364600-28378800	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:28364800-28375400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:28364800-28375600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:28364800-28375600	Weak transcription	Aorta	Aorta
20	chr10:28364800-28376800	Weak transcription	HSMM	muscle
21	chr10:28364800-28377600	Weak transcription	Fetal Heart	heart
22	chr10:28364800-28378400	Weak transcription	HSMMtube	muscle
23	chr10:28364800-28379600	Weak transcription	Adipose Nuclei	Adipose
24	chr10:28364800-28392000	Weak transcription	Gastric	stomach
25	chr10:28364800-28416600	Weak transcription	Pancreas	Pancrea
26	chr10:28365000-28375400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:28365000-28375400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr10:28365000-28379600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr10:28365200-28375400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:28365200-28376200	Weak transcription	Primary B cells from cord blood	blood
31	chr10:28365200-28379600	Weak transcription	HepG2	liver
32	chr10:28365200-28380200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:28365400-28375400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:28365400-28375400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:28365600-28375600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr10:28365800-28375600	Weak transcription	Fetal Intestine Small	intestine
37	chr10:28367400-28374000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr10:28367400-28374200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:28367400-28378800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:28367800-28377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:28367800-28420200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr10:28369400-28378800	Strong transcription	Primary T cells from cord blood	blood
43	chr10:28370800-28377200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:28371200-28378800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr10:28371400-28376800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr10:28371400-28379800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:28371600-28374800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:28372000-28375000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr10:28372800-28373800	Strong transcription	Fetal Intestine Large	intestine
50	chr10:28373200-28374000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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