Variant report

Variant	nsv460858
Chromosome Location	chr3:134191938-134195885
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134026656..134027867-chr3:134192501..134193467,17	MCF-7	breast:
2	chr3:134092105..134095063-chr3:134194966..134196485,2	MCF-7	breast:
3	chr3:134028222..134030305-chr3:134194088..134195794,2	K562	blood:
4	chr3:134075315..134078566-chr3:134189782..134194003,4	MCF-7	breast:
5	chr3:134083001..134085504-chr3:134191468..134193210,2	MCF-7	breast:
6	chr3:134070789..134073283-chr3:134191774..134193534,2	MCF-7	breast:
7	chr3:134087277..134089419-chr3:134195150..134197422,2	MCF-7	breast:
8	chr3:134172461..134174570-chr3:134191518..134193817,2	MCF-7	breast:
9	chr3:134028238..134029130-chr3:134192659..134193282,3	MCF-7	breast:
10	chr3:134177467..134180385-chr3:134192923..134195791,2	MCF-7	breast:
11	chr3:134027278..134027877-chr3:134192552..134193439,4	K562	blood:
12	chr3:134026309..134027866-chr3:134192546..134193488,7	MCF-7	breast:
13	chr3:134097967..134100693-chr3:134192523..134195413,2	MCF-7	breast:
14	chr3:134194842..134202002-chr3:134202428..134206148,8	K562	blood:
15	chr3:134188763..134190548-chr3:134191241..134193018,3	MCF-7	breast:
16	chr3:134027069..134028938-chr3:134191393..134194235,2	MCF-7	breast:
17	chr3:134032429..134034030-chr3:134195239..134197108,2	MCF-7	breast:
18	chr3:134015794..134017542-chr3:134192184..134194395,2	K562	blood:
19	chr3:134032191..134034661-chr3:134191037..134192947,2	MCF-7	breast:
20	chr3:134087226..134089802-chr3:134191337..134194305,2	MCF-7	breast:
21	chr3:134067954..134073453-chr3:134193720..134198538,5	MCF-7	breast:
22	chr3:134026273..134028991-chr3:134194363..134198560,4	MCF-7	breast:
23	chr3:134191379..134193880-chr3:134203414..134206038,3	MCF-7	breast:
24	chr3:134077038..134077967-chr3:134192480..134193108,3	K562	blood:
25	chr3:134191815..134194495-chr3:134200206..134203581,3	K562	blood:
26	chr3:134027019..134027846-chr3:134191593..134192140,2	K562	blood:
27	chr3:134024950..134033700-chr3:134189216..134199294,13	MCF-7	breast:
28	chr3:134184482..134185994-chr3:134195055..134196673,2	MCF-7	breast:
29	chr3:134076345..134078417-chr3:134195768..134197623,2	MCF-7	breast:
30	chr3:134091204..134095146-chr3:134189472..134194570,7	MCF-7	breast:
31	chr3:134083418..134085154-chr3:134192940..134194517,2	MCF-7	breast:
32	chr3:134092717..134095501-chr3:134190720..134194395,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129055	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000260633	chromatin interactions
ENSG00000240006	chromatin interactions
ENSG00000214289	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9841212	chr3:134191938-134191939	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536753119	chr3:134191967-134191968	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs556572438	chr3:134191980-134191981	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs569971966	chr3:134191998-134191999	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs374350115	chr3:134192035-134192036	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs538989287	chr3:134192045-134192046	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs558658454	chr3:134192061-134192062	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs572452453	chr3:134192086-134192087	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs541317245	chr3:134192098-134192099	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs116793103	chr3:134192106-134192107	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs181175303	chr3:134192107-134192108	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs574647936	chr3:134192138-134192139	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs542380692	chr3:134192199-134192200	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs146582043	chr3:134192209-134192210	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs113854939	chr3:134192218-134192219	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs112447404	chr3:134192223-134192224	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs139169486	chr3:134192231-134192232	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs549707291	chr3:134192244-134192245	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs564868823	chr3:134192271-134192272	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs9842113	chr3:134192338-134192339	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs575424110	chr3:134192405-134192406	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs547673174	chr3:134192441-134192442	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs9842140	chr3:134192469-134192470	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs547419590	chr3:134192484-134192485	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs551715660	chr3:134192487-134192488	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569736219	chr3:134192501-134192502	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs112109860	chr3:134192502-134192503	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs529885980	chr3:134192506-134192507	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs550022053	chr3:134192513-134192514	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs34813056	chr3:134192514-134192515	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs537308611	chr3:134192515-134192516	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs374111260	chr3:134192516-134192517	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs200098310	chr3:134192582-134192583	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs565698727	chr3:134192606-134192607	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs369473419	chr3:134192643-134192644	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs545844492	chr3:134192644-134192645	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs534990360	chr3:134192646-134192647	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs143093719	chr3:134192674-134192675	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs114432254	chr3:134192695-134192696	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs537688034	chr3:134192705-134192706	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs557249317	chr3:134192709-134192710	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs181046750	chr3:134192722-134192723	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs544765902	chr3:134192745-134192746	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs377169280	chr3:134192782-134192783	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs564881244	chr3:134192831-134192832	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs572022625	chr3:134192863-134192864	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs541357099	chr3:134192913-134192914	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs561132131	chr3:134192927-134192928	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs35947906	chr3:134192950-134192951	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs144569129	chr3:134193033-134193034	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134181800-134195000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:134182400-134195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:134182800-134195200	Weak transcription	Colonic Mucosa	Colon
4	chr3:134182800-134195400	Weak transcription	Small Intestine	intestine
5	chr3:134182800-134199400	Weak transcription	Pancreas	Pancrea
6	chr3:134183600-134195000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:134183800-134192600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:134183800-134195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:134183800-134195800	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:134183800-134203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:134184000-134192600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:134184000-134192600	Weak transcription	Psoas Muscle	Psoas
13	chr3:134184000-134192600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:134184000-134193800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:134184000-134197000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:134184000-134197000	Weak transcription	Ovary	ovary
17	chr3:134184000-134199400	Weak transcription	Aorta	Aorta
18	chr3:134184000-134203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:134184200-134192600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:134184200-134194600	Weak transcription	Brain Germinal Matrix	brain
21	chr3:134184600-134195600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:134185200-134192600	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:134185400-134194800	Weak transcription	Fetal Brain Female	brain
24	chr3:134185600-134194200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:134186000-134197000	Weak transcription	Fetal Brain Male	brain
26	chr3:134186800-134192600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:134186800-134195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:134186800-134195200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:134187600-134192600	Weak transcription	HepG2	liver
30	chr3:134187600-134195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:134187800-134192600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:134188000-134192600	Weak transcription	Fetal Intestine Small	intestine
33	chr3:134188200-134195000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:134188800-134193800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:134189000-134192000	Enhancers	Stomach Mucosa	stomach
36	chr3:134189000-134192600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:134189000-134193000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:134189200-134192600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:134189200-134195600	Weak transcription	Thymus	Thymus
40	chr3:134189600-134194400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:134190000-134192600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:134190000-134193600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:134190000-134194400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:134190000-134195000	Weak transcription	GM12878-XiMat	blood
45	chr3:134190200-134192200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:134190200-134192400	Strong transcription	Primary T cells from cord blood	blood
47	chr3:134190200-134192600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr3:134190200-134193000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:134190400-134192000	Enhancers	Lung	lung
50	chr3:134190400-134192200	Strong transcription	Primary B cells from cord blood	blood

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