Variant report

Variant	rs3933402
Chromosome Location	chr11:73064416-73064417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73062340..73064518-chr11:73067890..73070337,3	K562	blood:
2	chr11:73061043..73065254-chr11:73095025..73099626,5	MCF-7	breast:
3	chr11:73063611..73066339-chr11:73086513..73088822,2	K562	blood:
4	chr11:73063611..73064502-chr11:73102395..73103359,2	K562	blood:
5	chr11:73053383..73056198-chr11:73063890..73066382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000266866	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10898917	0.88[AFR][1000 genomes]
rs11235738	1.00[JPT][hapmap]
rs11235745	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11235746	1.00[JPT][hapmap]
rs11235759	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11235770	0.85[CHD][hapmap]
rs11235775	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11820929	1.00[JPT][hapmap]
rs11821094	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs11823913	1.00[JPT][hapmap]
rs11823923	1.00[JPT][hapmap]
rs11824116	1.00[TSI][hapmap]
rs11824614	1.00[JPT][hapmap]
rs11826896	1.00[JPT][hapmap]
rs11826909	1.00[JPT][hapmap]
rs11828904	1.00[JPT][hapmap]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	1.00[JPT][hapmap];0.85[LWK][hapmap]
rs12280876	1.00[EUR][1000 genomes]
rs12282282	1.00[JPT][hapmap]
rs12282790	1.00[JPT][hapmap]
rs12284174	1.00[EUR][1000 genomes]
rs12288753	1.00[JPT][hapmap]
rs12290623	1.00[JPT][hapmap]
rs12290835	1.00[JPT][hapmap]
rs12291164	1.00[EUR][1000 genomes]
rs1894076	1.00[JPT][hapmap];0.85[LWK][hapmap]
rs1938777	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2027761	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2027763	1.00[JPT][hapmap]
rs2298469	1.00[JPT][hapmap]
rs2298807	1.00[JPT][hapmap]
rs28719552	1.00[EUR][1000 genomes]
rs3741149	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3825005	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs55851019	1.00[EUR][1000 genomes]
rs56024886	1.00[EUR][1000 genomes]
rs57727431	0.91[ASN][1000 genomes]
rs57792931	1.00[ASN][1000 genomes]
rs57860998	1.00[ASN][1000 genomes]
rs58053874	1.00[EUR][1000 genomes]
rs58460917	1.00[EUR][1000 genomes]
rs58965711	1.00[EUR][1000 genomes]
rs58995758	1.00[EUR][1000 genomes]
rs59268601	1.00[EUR][1000 genomes]
rs59271755	1.00[EUR][1000 genomes]
rs59376886	1.00[ASN][1000 genomes]
rs59804106	1.00[EUR][1000 genomes]
rs60038108	0.91[ASN][1000 genomes]
rs60206663	1.00[EUR][1000 genomes]
rs60436721	1.00[ASN][1000 genomes]
rs60610185	1.00[EUR][1000 genomes]
rs60779105	1.00[EUR][1000 genomes]
rs61086238	1.00[EUR][1000 genomes]
rs61122124	1.00[EUR][1000 genomes]
rs61218298	1.00[ASN][1000 genomes]
rs61260942	1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	1.00[EUR][1000 genomes]
rs6592521	1.00[JPT][hapmap]
rs7101831	1.00[JPT][hapmap]
rs7102197	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7102423	1.00[ASN][1000 genomes]
rs7107905	0.83[AFR][1000 genomes]
rs7111021	1.00[EUR][1000 genomes]
rs7113420	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7114009	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7114376	1.00[JPT][hapmap]
rs7118982	1.00[JPT][hapmap]
rs7119632	1.00[EUR][1000 genomes]
rs7119975	1.00[EUR][1000 genomes]
rs7122979	1.00[EUR][1000 genomes]
rs7123114	1.00[EUR][1000 genomes]
rs7123218	1.00[EUR][1000 genomes]
rs7123298	1.00[JPT][hapmap]
rs7123300	1.00[ASN][1000 genomes]
rs7123985	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7125598	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7125978	1.00[JPT][hapmap]
rs7127143	1.00[EUR][1000 genomes]
rs7127412	1.00[EUR][1000 genomes]
rs7131383	1.00[JPT][hapmap]
rs7131397	1.00[JPT][hapmap]
rs725103	1.00[JPT][hapmap]
rs7342152	1.00[ASN][1000 genomes]
rs7342205	1.00[JPT][hapmap];0.85[LWK][hapmap]
rs7930880	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs7934218	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7935948	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7937210	1.00[ASN][1000 genomes]
rs7941359	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7944099	1.00[JPT][hapmap];0.85[LWK][hapmap]
rs7944346	1.00[JPT][hapmap]
rs7952686	1.00[JPT][hapmap]
rs876480	1.00[JPT][hapmap]
rs880317	1.00[JPT][hapmap]
rs947836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947837	1.00[JPT][hapmap]
rs9888218	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73075400	Weak transcription	A549	lung
2	chr11:73053800-73065800	Weak transcription	Fetal Kidney	kidney
3	chr11:73053800-73070000	Weak transcription	HUVEC	blood vessel
4	chr11:73054400-73066600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
6	chr11:73054800-73072800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:73055000-73071000	Weak transcription	Esophagus	oesophagus
8	chr11:73055000-73072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:73055000-73072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:73055800-73066800	Weak transcription	Colonic Mucosa	Colon
11	chr11:73055800-73068400	Weak transcription	NH-A	brain
12	chr11:73055800-73071800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:73056000-73072200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
15	chr11:73056200-73066600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:73058000-73071200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:73058400-73065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:73059000-73074000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:73059200-73071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:73059600-73070400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:73059800-73068600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
24	chr11:73060200-73065800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:73060200-73066400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73060200-73066400	Weak transcription	Gastric	stomach
27	chr11:73060200-73077000	Weak transcription	GM12878-XiMat	blood
28	chr11:73061000-73066400	Weak transcription	Right Ventricle	heart
29	chr11:73062200-73066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:73062200-73066600	Weak transcription	Pancreas	Pancrea
31	chr11:73062200-73070000	Weak transcription	HMEC	breast
32	chr11:73062200-73075000	Weak transcription	Primary B cells from cord blood	blood
33	chr11:73062200-73077600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:73062600-73065600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:73062600-73072400	Weak transcription	Hela-S3	cervix
36	chr11:73062600-73073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:73062600-73077000	Weak transcription	Fetal Brain Male	brain
38	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
40	chr11:73062600-73087400	Weak transcription	Liver	Liver
41	chr11:73062800-73071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:73063400-73068000	Strong transcription	Osteobl	bone
43	chr11:73063400-73068200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:73063400-73069400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:73063400-73070000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:73063400-73070000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
49	chr11:73063600-73065000	Strong transcription	Placenta	Placenta
50	chr11:73063600-73068000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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