Variant report

Variant	rs61761151
Chromosome Location	chr12:25386927-25386928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25386176..25388499-chr12:25396518..25399211,2	K562	blood:
2	chr12:25356292..25358617-chr12:25386148..25388337,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10400492	0.92[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61761086	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61761090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61761092	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61761147	1.00[AMR][1000 genomes]
rs61762363	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61764371	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61764377	0.92[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:7 , 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

No data

Chromatin state (count:115 , 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	chr12:25349400-25388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:25349400-25388600	Weak transcription	NHLF	lung
6	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
9	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
10	chr12:25349600-25389000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:25349800-25390200	Weak transcription	K562	blood
17	chr12:25350000-25402800	Weak transcription	Ovary	ovary
18	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:25354400-25402200	Weak transcription	Pancreas	Pancrea
20	chr12:25354600-25389000	Weak transcription	HSMMtube	muscle
21	chr12:25355800-25396000	Weak transcription	Small Intestine	intestine
22	chr12:25356600-25402600	Weak transcription	Fetal Heart	heart
23	chr12:25360800-25388600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:25360800-25389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:25360800-25402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:25361000-25388000	Weak transcription	A549	lung
27	chr12:25361000-25388600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:25361000-25388800	Weak transcription	Esophagus	oesophagus
29	chr12:25361000-25395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:25361000-25402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:25361000-25402600	Weak transcription	Fetal Brain Female	brain
32	chr12:25361200-25388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:25361200-25389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:25362000-25402400	Weak transcription	HepG2	liver
35	chr12:25363400-25388000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:25365200-25393800	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:25367800-25388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:25369600-25388200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:25372400-25402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:25373000-25393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:25373400-25388200	Weak transcription	GM12878-XiMat	blood
42	chr12:25374400-25391600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:25374600-25388400	Weak transcription	Thymus	Thymus
44	chr12:25374600-25388600	Weak transcription	Lung	lung
45	chr12:25374800-25402600	Weak transcription	Placenta	Placenta
46	chr12:25375000-25388600	Weak transcription	Fetal Stomach	stomach
47	chr12:25375000-25402800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:25376800-25388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:25377000-25389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:25377400-25388600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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