Variant report

Variant	rs61761090
Chromosome Location	chr12:25393080-25393081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25391008..25395226-chr12:25537516..25540664,6	MCF-7	breast:
2	chr12:25390084..25393498-chr12:25395156..25398677,4	K562	blood:
3	chr12:25347822..25349448-chr12:25393045..25395353,2	K562	blood:
4	chr12:25392189..25396143-chr12:25537109..25540514,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205707	Chromatin interaction
ENSG00000118307	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10400492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047859	1.00[EUR][1000 genomes]
rs11047869	1.00[EUR][1000 genomes]
rs11047898	1.00[EUR][1000 genomes]
rs11829456	1.00[EUR][1000 genomes]
rs11833781	1.00[EUR][1000 genomes]
rs11835872	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307064	1.00[EUR][1000 genomes]
rs12313763	1.00[EUR][1000 genomes]
rs34164267	1.00[EUR][1000 genomes]
rs61759608	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61759613	1.00[EUR][1000 genomes]
rs61759631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61761086	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61761092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61761147	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61761151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61762363	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61764371	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61764377	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7304274	1.00[EUR][1000 genomes]
rs7953861	1.00[EUR][1000 genomes]
rs7972282	1.00[EUR][1000 genomes]
rs7978771	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv898923	chr12:25357680-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv898924	chr12:25357680-25398972	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv557798	chr12:25359841-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv898925	chr12:25367669-25398972	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv470279	chr12:25384658-25399121	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv898927	chr12:25389220-25408047	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv522233	chr12:25392282-25397282	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
3	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
4	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
7	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:25350000-25402800	Weak transcription	Ovary	ovary
14	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:25354400-25402200	Weak transcription	Pancreas	Pancrea
16	chr12:25355800-25396000	Weak transcription	Small Intestine	intestine
17	chr12:25356600-25402600	Weak transcription	Fetal Heart	heart
18	chr12:25360800-25402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:25361000-25395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:25361000-25402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:25361000-25402600	Weak transcription	Fetal Brain Female	brain
22	chr12:25362000-25402400	Weak transcription	HepG2	liver
23	chr12:25365200-25393800	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:25372400-25402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:25373000-25393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:25374800-25402600	Weak transcription	Placenta	Placenta
27	chr12:25375000-25402800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:25377800-25402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:25377800-25402200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:25378800-25401800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:25380400-25402200	Weak transcription	Fetal Lung	lung
32	chr12:25380600-25393800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:25381000-25395400	Weak transcription	HUVEC	blood vessel
34	chr12:25381200-25402400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:25382000-25402600	Weak transcription	Colonic Mucosa	Colon
36	chr12:25383000-25399000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:25385200-25393600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:25385200-25402600	Weak transcription	Aorta	Aorta
39	chr12:25385400-25395400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:25386200-25402800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:25386400-25393400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:25386400-25402800	Weak transcription	Gastric	stomach
43	chr12:25386600-25393800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:25386600-25402600	Weak transcription	Fetal Kidney	kidney
45	chr12:25386800-25402600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:25387000-25396800	Weak transcription	Hela-S3	cervix
47	chr12:25387600-25394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:25388000-25393400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:25388000-25394000	Strong transcription	Dnd41	blood
50	chr12:25388200-25393800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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