Variant report

Variant	rs4238020
Chromosome Location	chr12:4616642-4616643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1029769	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849083	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849085	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849086	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849087	0.82[ASN][1000 genomes]
rs10849089	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849090	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849091	0.90[AFR][1000 genomes]
rs11063177	0.83[EUR][1000 genomes]
rs11063179	0.97[EUR][1000 genomes]
rs11063181	0.97[EUR][1000 genomes]
rs11063182	0.97[EUR][1000 genomes]
rs11063187	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063188	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063189	0.96[EUR][1000 genomes]
rs11063191	0.96[EUR][1000 genomes]
rs11063193	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063194	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063195	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063196	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063197	0.90[ASN][1000 genomes]
rs11063199	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063202	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063205	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063206	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063207	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063214	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063215	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063217	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063227	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11063228	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12314323	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12366731	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12367035	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2907492	0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2907494	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2907495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2907498	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2907499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909380	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909381	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2970808	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2970810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2970812	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2970818	0.90[ASN][1000 genomes]
rs4323977	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60388479	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61909580	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73037770	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304949	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308641	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7314915	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7965755	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7972086	0.82[ASN][1000 genomes]
rs9971700	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9971728	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
3	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
4	chr12:4594400-4646400	Weak transcription	NHLF	lung
5	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
6	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:4595400-4628600	Weak transcription	A549	lung
8	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
9	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:4596600-4618000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
12	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:4596800-4617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
16	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:4608600-4625600	Weak transcription	Pancreas	Pancrea
20	chr12:4608600-4625800	Weak transcription	Aorta	Aorta
21	chr12:4608600-4628800	Weak transcription	Gastric	stomach
22	chr12:4608600-4629000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:4608600-4629400	Weak transcription	Spleen	Spleen
24	chr12:4609000-4616800	Weak transcription	Thymus	Thymus
25	chr12:4609000-4627200	Weak transcription	Lung	lung
26	chr12:4609000-4633400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:4609400-4617400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:4609600-4640400	Weak transcription	Fetal Kidney	kidney
29	chr12:4609600-4642400	Weak transcription	Brain Substantia Nigra	brain
30	chr12:4609800-4640800	Weak transcription	Fetal Brain Female	brain
31	chr12:4610200-4617600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:4611200-4628800	Weak transcription	Fetal Stomach	stomach
34	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:4611400-4627200	Weak transcription	Ovary	ovary
36	chr12:4611600-4625200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:4611600-4625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:4611600-4628800	Weak transcription	Brain Anterior Caudate	brain
39	chr12:4612400-4624400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:4612400-4627200	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:4612600-4629000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:4613400-4625600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:4613400-4627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:4613400-4628000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:4613600-4617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:4613600-4624400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:4613600-4631000	Weak transcription	HUVEC	blood vessel
48	chr12:4614200-4616800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:4614200-4617000	Enhancers	HSMM	muscle
50	chr12:4614200-4624200	Weak transcription	Placenta	Placenta

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