Variant report

Variant	nsv511445
Chromosome Location	chr10:93627158-93635541
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:93628714..93630767-chr10:93634147..93636054,2	K562	blood:
2	chr10:93576673..93578768-chr10:93627898..93630166,2	MCF-7	breast:
3	chr10:93623670..93626355-chr10:93627411..93630158,2	MCF-7	breast:
4	chr10:93627211..93629646-chr10:93632804..93634788,2	MCF-7	breast:
5	chr10:93630115..93633090-chr10:93633153..93635901,2	K562	blood:
6	chr10:93630115..93633090-chr10:93633153..93635901,2	K562	blood:
7	chr10:93628714..93630767-chr10:93634147..93636054,2	K562	blood:
8	chr10:93627211..93629646-chr10:93632804..93634788,2	MCF-7	breast:
9	chr10:93621243..93623649-chr10:93626031..93628868,2	K562	blood:
10	chr10:93627568..93629782-chr10:93667087..93669916,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174721	chromatin interactions
ENSG00000272817	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:259 , 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	rs10881985	chr10:93627158-93627159	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558070649	chr10:93627232-93627233	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577901891	chr10:93627296-93627297	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189375292	chr10:93627340-93627341	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553771492	chr10:93627342-93627343	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573178006	chr10:93627350-93627351	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539010205	chr10:93627437-93627438	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2259287	chr10:93627471-93627472	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs542765400	chr10:93627512-93627513	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562954738	chr10:93627513-93627514	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150438289	chr10:93627555-93627556	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544388135	chr10:93627559-93627560	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180956207	chr10:93627560-93627561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533245124	chr10:93627603-93627604	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546891051	chr10:93627623-93627624	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138197881	chr10:93627681-93627682	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372896709	chr10:93627694-93627695	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528832318	chr10:93627726-93627727	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143881742	chr10:93627758-93627759	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568921500	chr10:93627772-93627773	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538090372	chr10:93627783-93627784	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551537222	chr10:93627823-93627824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs143838049	chr10:93627838-93627839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs78360217	chr10:93627938-93627939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186373541	chr10:93627968-93627969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534236993	chr10:93627969-93627970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554004341	chr10:93627999-93628000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7097944	chr10:93628025-93628026	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146348112	chr10:93628069-93628070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs143469264	chr10:93628090-93628091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555698619	chr10:93628094-93628095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200187688	chr10:93628101-93628102	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2259280	chr10:93628128-93628129	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs7082350	chr10:93628164-93628165	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs368049628	chr10:93628205-93628206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs141723863	chr10:93628207-93628208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs202061515	chr10:93628208-93628209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35188392	chr10:93628210-93628211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544448556	chr10:93628256-93628257	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558008183	chr10:93628279-93628280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190142572	chr10:93628301-93628302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540535520	chr10:93628410-93628411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56078226	chr10:93628556-93628557	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528919295	chr10:93628568-93628569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143340186	chr10:93628584-93628585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181375164	chr10:93628605-93628606	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567391096	chr10:93628715-93628716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531455464	chr10:93628749-93628750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540409936	chr10:93628779-93628780	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs185853289	chr10:93628790-93628791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93572600-93629000	Weak transcription	Stomach Mucosa	stomach
2	chr10:93598400-93629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:93599200-93629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:93599600-93634600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:93606400-93630200	Weak transcription	Esophagus	oesophagus
6	chr10:93608800-93627400	Weak transcription	Pancreas	Pancrea
7	chr10:93608800-93627600	Weak transcription	Gastric	stomach
8	chr10:93608800-93639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:93608800-93643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:93610600-93627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:93612200-93627600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:93613400-93627800	Weak transcription	Aorta	Aorta
13	chr10:93613600-93627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:93618400-93639400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:93620200-93627600	Weak transcription	Thymus	Thymus
16	chr10:93620600-93631000	Weak transcription	HepG2	liver
17	chr10:93621000-93627800	Weak transcription	Psoas Muscle	Psoas
18	chr10:93621000-93627800	Weak transcription	HUVEC	blood vessel
19	chr10:93621200-93628800	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:93621400-93628000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:93621400-93628600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:93621400-93629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:93622400-93629000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:93622600-93627600	Weak transcription	Fetal Kidney	kidney
25	chr10:93622600-93627600	Weak transcription	GM12878-XiMat	blood
26	chr10:93622600-93639000	Weak transcription	Brain Germinal Matrix	brain
27	chr10:93622800-93639200	Weak transcription	Brain Angular Gyrus	brain
28	chr10:93623000-93627800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:93623200-93627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:93623600-93627200	Weak transcription	NH-A	brain
31	chr10:93624000-93627200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr10:93624200-93627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:93624200-93628200	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:93624200-93628400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:93624200-93629000	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:93624200-93630200	Weak transcription	Brain Anterior Caudate	brain
37	chr10:93624200-93634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:93624200-93639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:93624400-93627200	Weak transcription	Primary T cells from cord blood	blood
40	chr10:93624400-93627400	Weak transcription	Ovary	ovary
41	chr10:93624400-93627400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr10:93624400-93627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:93624400-93627600	Weak transcription	NHLF	lung
44	chr10:93624400-93628200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:93624600-93627600	Weak transcription	Osteobl	bone
46	chr10:93624800-93627200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr10:93624800-93627400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:93624800-93628400	Weak transcription	NHDF-Ad	bronchial
49	chr10:93624800-93629200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:93625600-93628800	Weak transcription	Placenta	Placenta

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