Variant report

Variant	rs73399502
Chromosome Location	chr12:117452276-117452277
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	chr12:117447732..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]
rs4094199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
4	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
5	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
7	chr12:117444000-117462800	Weak transcription	K562	blood
8	chr12:117444600-117452400	Weak transcription	Aorta	Aorta
9	chr12:117444600-117452400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:117444600-117452400	Weak transcription	Left Ventricle	heart
11	chr12:117444600-117452400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:117445400-117452400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:117445800-117452600	Weak transcription	Gastric	stomach
14	chr12:117446000-117452400	Weak transcription	HSMM	muscle
15	chr12:117447000-117454200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:117447400-117454000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:117447400-117454200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:117447400-117454800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:117448400-117453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:117448400-117462000	Weak transcription	Hela-S3	cervix
21	chr12:117448600-117452400	Weak transcription	Spleen	Spleen
22	chr12:117448800-117452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:117449400-117452400	Weak transcription	Right Ventricle	heart
24	chr12:117449600-117452400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:117449600-117452400	Weak transcription	Pancreas	Pancrea
26	chr12:117449800-117452400	Weak transcription	Fetal Thymus	thymus
27	chr12:117449800-117452800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:117450000-117452400	Weak transcription	Placenta	Placenta
29	chr12:117450200-117452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:117450200-117452400	Weak transcription	Ovary	ovary
31	chr12:117450200-117452400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:117450200-117453200	Weak transcription	NH-A	brain
33	chr12:117450200-117453800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr12:117450200-117455600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:117450200-117455800	Weak transcription	Fetal Brain Male	brain
36	chr12:117450200-117461800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:117450400-117452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:117450400-117453800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:117450400-117454200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:117450400-117461800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:117450600-117453400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:117450800-117452800	Enhancers	HUVEC	blood vessel
43	chr12:117450800-117453400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:117450800-117453600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:117450800-117453800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:117450800-117453800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:117450800-117453800	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr12:117450800-117454800	Strong transcription	Fetal Kidney	kidney
49	chr12:117450800-117461200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:117450800-117461600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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