Variant report

Variant	rs4094199
Chromosome Location	chr12:117450041-117450042
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117439692..117442558-chr12:117449975..117451489,2	K562	blood:
2	chr12:117441591..117444664-chr12:117447106..117450120,5	MCF-7	breast:
3	chr12:117446881..117449437-chr12:117449689..117452192,3	K562	blood:
4	chr12:117442427..117445023-chr12:117448481..117451118,2	K562	blood:
5	chr12:117447732..117449605-chr12:117449689..117452738,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1032528	0.80[EUR][1000 genomes]
rs1051879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068246	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068255	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11833966	0.80[EUR][1000 genomes]
rs11836743	0.93[EUR][1000 genomes]
rs12099584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308592	0.89[AMR][1000 genomes]
rs12313248	0.89[AMR][1000 genomes]
rs12316811	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12317604	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12321592	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947122	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947131	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947144	1.00[EUR][1000 genomes]
rs16947209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947233	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947295	0.86[EUR][1000 genomes]
rs41364651	0.86[EUR][1000 genomes]
rs4451816	0.89[AMR][1000 genomes]
rs57135901	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58882507	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59373313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59623332	0.93[EUR][1000 genomes]
rs60272946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61178788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61207925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61288722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133142	0.89[AMR][1000 genomes]
rs7133609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136880	0.89[AMR][1000 genomes]
rs7302713	0.89[AMR][1000 genomes]
rs7305313	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7314897	1.00[EUR][1000 genomes]
rs73395566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395571	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73395601	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397424	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397478	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403259	0.80[EUR][1000 genomes]
rs73403260	0.80[EUR][1000 genomes]
rs73403261	0.80[EUR][1000 genomes]
rs73403264	0.80[EUR][1000 genomes]
rs73403270	0.80[EUR][1000 genomes]
rs7958175	0.93[EUR][1000 genomes]
rs7959860	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7963012	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
5	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
7	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
8	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:117437400-117451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:117441200-117451200	Weak transcription	Fetal Brain Female	brain
12	chr12:117443800-117452000	Weak transcription	Fetal Heart	heart
13	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
14	chr12:117444000-117450800	Weak transcription	Fetal Kidney	kidney
15	chr12:117444000-117462800	Weak transcription	K562	blood
16	chr12:117444400-117451800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:117444400-117452200	Weak transcription	Brain Angular Gyrus	brain
18	chr12:117444600-117451800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:117444600-117452200	Weak transcription	Esophagus	oesophagus
20	chr12:117444600-117452400	Weak transcription	Aorta	Aorta
21	chr12:117444600-117452400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:117444600-117452400	Weak transcription	Left Ventricle	heart
23	chr12:117444600-117452400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:117445400-117452400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:117445600-117452200	Weak transcription	HepG2	liver
26	chr12:117445800-117452200	Weak transcription	Dnd41	blood
27	chr12:117445800-117452600	Weak transcription	Gastric	stomach
28	chr12:117446000-117452400	Weak transcription	HSMM	muscle
29	chr12:117446200-117450800	Weak transcription	HUVEC	blood vessel
30	chr12:117447000-117450200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr12:117447000-117450400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:117447000-117450400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:117447000-117450800	Strong transcription	Fetal Stomach	stomach
34	chr12:117447000-117454200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:117447200-117450200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:117447200-117450400	Strong transcription	Primary T cells from cord blood	blood
37	chr12:117447200-117450600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:117447400-117450800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:117447400-117451400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:117447400-117451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:117447400-117454000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:117447400-117454200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:117447400-117454800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:117447600-117450200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:117447600-117450200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:117447600-117450400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:117447600-117450600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:117447600-117450800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:117447600-117451800	Strong transcription	Fetal Lung	lung
50	chr12:117447800-117450400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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