Variant report

Variant	rs11681133
Chromosome Location	chr2:178197358-178197359
allele	C/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178127878..178129847-chr2:178194449..178197899,4	K562	blood:
2	chr2:178127881..178128762-chr2:178196915..178197633,3	MCF-7	breast:
3	chr2:178127258..178130407-chr2:178194593..178198613,8	MCF-7	breast:
4	chr2:178133576..178135485-chr2:178196299..178198924,2	K562	blood:
5	chr2:178029305..178030655-chr2:178196534..178197692,4	MCF-7	breast:
6	chr2:178127949..178131431-chr2:178195364..178200597,7	K562	blood:
7	chr2:178032268..178033198-chr2:178196791..178197558,2	K562	blood:
8	chr2:178028996..178029984-chr2:178196786..178197773,12	MCF-7	breast:
9	chr2:178077200..178078756-chr2:178196217..178198719,2	K562	blood:
10	chr2:178128085..178128821-chr2:178197259..178197985,2	K562	blood:
11	chr2:178193614..178195884-chr2:178197245..178198931,2	K562	blood:
12	chr2:178029203..178031622-chr2:178196979..178199645,3	K562	blood:
13	chr2:178130191..178133035-chr2:178195171..178199056,3	K562	blood:
14	chr2:178196424..178198872-chr2:178498721..178501636,2	K562	blood:
15	chr2:178120521..178123745-chr2:178196706..178199533,4	K562	blood:
16	chr2:178029005..178030012-chr2:178196743..178197734,12	K562	blood:
17	chr2:178076403..178078756-chr2:178195004..178198719,3	K562	blood:
18	chr2:178128048..178131363-chr2:178195705..178200002,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000265396	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000236501	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10166244	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173008	0.91[EUR][1000 genomes]
rs10173159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10173172	0.91[EUR][1000 genomes]
rs10176950	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179735	0.91[EUR][1000 genomes]
rs10179975	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10182714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10184488	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10190306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10196753	0.90[EUR][1000 genomes]
rs10196915	0.90[EUR][1000 genomes]
rs10207932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10803911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930782	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10930783	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930784	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930785	0.91[EUR][1000 genomes]
rs10930786	0.91[EUR][1000 genomes]
rs10930788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930793	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11674864	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11692099	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692146	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889478	0.90[EUR][1000 genomes]
rs12478545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12693118	0.91[EUR][1000 genomes]
rs12693119	0.88[EUR][1000 genomes]
rs12987686	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992747	0.90[EUR][1000 genomes]
rs13002088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13011915	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392350	1.00[JPT][hapmap]
rs1374438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453376	0.88[EUR][1000 genomes]
rs1530965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865191	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865322	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1867905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1869357	0.90[EUR][1000 genomes]
rs1869358	0.89[EUR][1000 genomes]
rs1901823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2167902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2218575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272529	1.00[JPT][hapmap]
rs2364733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2364847	0.88[EUR][1000 genomes]
rs2364848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2364852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3754989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4130304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4402804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4585065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893955	1.00[CHB][hapmap]
rs6414095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433661	0.87[EUR][1000 genomes]
rs6433662	0.90[EUR][1000 genomes]
rs6433666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710109	1.00[JPT][hapmap]
rs6719278	0.90[EUR][1000 genomes]
rs6720934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6724177	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6725331	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6731409	0.90[EUR][1000 genomes]
rs6732113	0.90[EUR][1000 genomes]
rs6732250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6732256	0.90[EUR][1000 genomes]
rs6735504	1.00[CHB][hapmap]
rs6740092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744488	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6746113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs73039071	0.81[ASN][1000 genomes]
rs73039075	0.81[ASN][1000 genomes]
rs7563082	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566319	0.81[ASN][1000 genomes]
rs7570297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7575328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578962	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7585952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7588049	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7588444	0.90[EUR][1000 genomes]
rs7594073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7601132	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602451	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7604668	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935949	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
4	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial
6	chr2:178191000-178200400	Weak transcription	Small Intestine	intestine
7	chr2:178191600-178202800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:178192000-178201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:178192200-178200000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:178193200-178202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:178194000-178197600	Enhancers	Stomach Mucosa	stomach
12	chr2:178194000-178202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:178194600-178197800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:178195200-178213600	Weak transcription	Gastric	stomach
15	chr2:178195400-178211400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:178196200-178197800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:178196200-178198000	Enhancers	Ovary	ovary
18	chr2:178196400-178198000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:178196400-178198000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:178196400-178198200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:178196400-178198400	Enhancers	Liver	Liver
22	chr2:178196600-178197600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:178196600-178197600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:178196600-178197600	Enhancers	Fetal Intestine Large	intestine
25	chr2:178196600-178197800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:178196600-178197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:178196600-178197800	Enhancers	Dnd41	blood
28	chr2:178196600-178197800	Enhancers	HMEC	breast
29	chr2:178196600-178197800	Enhancers	HSMMtube	muscle
30	chr2:178196600-178197800	Enhancers	HUVEC	blood vessel
31	chr2:178196600-178197800	Enhancers	NHLF	lung
32	chr2:178196600-178198000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:178196600-178198000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:178196600-178198000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:178196600-178198000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:178196600-178198000	Genic enhancers	HSMM	muscle
37	chr2:178196800-178197400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:178196800-178197400	Active TSS	Stomach Smooth Muscle	stomach
39	chr2:178196800-178197600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:178196800-178197600	Enhancers	NH-A	brain
41	chr2:178196800-178197800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:178196800-178197800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:178196800-178197800	Genic enhancers	K562	blood
44	chr2:178196800-178198000	Enhancers	Fetal Stomach	stomach
45	chr2:178196800-178198000	Enhancers	Hela-S3	cervix
46	chr2:178197000-178197400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:178197000-178197400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:178197000-178197400	Active TSS	Colon Smooth Muscle	Colon
49	chr2:178197000-178197600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:178197000-178197600	Active TSS	Duodenum Smooth Muscle	Duodenum

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