Variant report

Variant	rs12634183
Chromosome Location	chr3:194884299-194884300
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194882117..194884403-chr3:194909326..194911216,2	K562	blood:
2	chr3:194869726..194872527-chr3:194883949..194885510,2	K562	blood:
3	chr3:194877664..194879576-chr3:194883339..194885682,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12490970	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12496868	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12631534	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410805	1.00[AFR][1000 genomes]
rs6794662	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7628353	0.98[ASN][1000 genomes]
rs9830280	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9841564	0.89[EUR][1000 genomes]
rs9883144	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
15	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
17	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194862400-194897800	Weak transcription	Dnd41	blood
2	chr3:194868800-194885400	Enhancers	Fetal Muscle Leg	muscle
3	chr3:194871400-194887400	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:194873000-194884400	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:194873000-194884600	Enhancers	Fetal Thymus	thymus
6	chr3:194874000-194889800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:194876600-194893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:194876800-194893800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:194877200-194891200	Weak transcription	Psoas Muscle	Psoas
10	chr3:194877400-194888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:194877400-194888800	Weak transcription	Brain Germinal Matrix	brain
12	chr3:194878200-194885200	Enhancers	Fetal Stomach	stomach
13	chr3:194880000-194887400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:194880200-194885000	Enhancers	K562	blood
15	chr3:194880200-194886400	Enhancers	Spleen	Spleen
16	chr3:194880800-194887200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:194881000-194884600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:194881000-194888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:194881200-194885000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:194881200-194887400	Enhancers	HUVEC	blood vessel
21	chr3:194881200-194888800	Weak transcription	NHEK	skin
22	chr3:194881400-194884400	Enhancers	Stomach Smooth Muscle	stomach
23	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
24	chr3:194881600-194885000	Enhancers	HepG2	liver
25	chr3:194881600-194885600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:194881600-194889200	Weak transcription	Esophagus	oesophagus
27	chr3:194881600-194892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:194881600-194893000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:194881600-194903000	Weak transcription	HSMM	muscle
30	chr3:194881800-194891000	Weak transcription	Right Ventricle	heart
31	chr3:194881800-194892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:194881800-194893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:194881800-194893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:194882000-194885200	Weak transcription	Stomach Mucosa	stomach
35	chr3:194882000-194891800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:194882400-194885000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr3:194882600-194885200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr3:194882600-194885400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr3:194882800-194884400	Enhancers	Primary T cells from cord blood	blood
41	chr3:194882800-194884400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr3:194882800-194884600	Enhancers	Fetal Heart	heart
43	chr3:194882800-194885400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:194882800-194885600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr3:194883000-194884400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr3:194883000-194884800	Enhancers	Thymus	Thymus
47	chr3:194883000-194885200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:194883200-194884400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:194883200-194885000	Weak transcription	Pancreas	Pancrea
50	chr3:194883200-194891400	Weak transcription	Left Ventricle	heart

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