Variant report

Variant	rs74099398
Chromosome Location	chr12:64337981-64337982
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12296441	1.00[EUR][1000 genomes]
rs12302441	1.00[EUR][1000 genomes]
rs12307017	1.00[EUR][1000 genomes]
rs12313251	1.00[EUR][1000 genomes]
rs12315032	1.00[EUR][1000 genomes]
rs12316287	1.00[EUR][1000 genomes]
rs12318085	1.00[EUR][1000 genomes]
rs12320688	1.00[EUR][1000 genomes]
rs17099997	1.00[EUR][1000 genomes]
rs17100007	1.00[EUR][1000 genomes]
rs17100009	1.00[EUR][1000 genomes]
rs17100013	1.00[EUR][1000 genomes]
rs55801058	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56236229	0.90[AFR][1000 genomes]
rs57074356	1.00[EUR][1000 genomes]
rs57138272	1.00[EUR][1000 genomes]
rs57140731	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57540857	1.00[EUR][1000 genomes]
rs57937852	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58129443	1.00[EUR][1000 genomes]
rs59161915	1.00[EUR][1000 genomes]
rs60392489	1.00[EUR][1000 genomes]
rs74097504	1.00[EUR][1000 genomes]
rs74097515	1.00[EUR][1000 genomes]
rs74097516	1.00[EUR][1000 genomes]
rs74097517	1.00[EUR][1000 genomes]
rs74097545	1.00[EUR][1000 genomes]
rs74097547	1.00[EUR][1000 genomes]
rs74099369	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099375	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099376	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099377	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099378	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099379	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099380	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099381	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099382	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099383	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099384	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099385	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099392	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099393	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099395	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099400	1.00[EUR][1000 genomes]
rs7961633	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7961964	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7976142	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7976369	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7977480	0.95[AFR][1000 genomes];1.00[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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64316600-64338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:64328000-64339800	Enhancers	Fetal Brain Male	brain
4	chr12:64328400-64339600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
7	chr12:64329400-64339400	Weak transcription	HMEC	breast
8	chr12:64329800-64343800	Weak transcription	Osteobl	bone
9	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:64330200-64338400	Weak transcription	Fetal Stomach	stomach
12	chr12:64330400-64346800	Weak transcription	Gastric	stomach
13	chr12:64332000-64339200	Weak transcription	NHLF	lung
14	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:64332400-64338600	Weak transcription	Right Ventricle	heart
16	chr12:64333000-64339000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:64333000-64349200	Weak transcription	HSMM	muscle
18	chr12:64334200-64338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:64334600-64338000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:64334600-64338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:64334600-64343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:64334800-64338000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:64334800-64338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:64334800-64338200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:64334800-64338200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:64334800-64338200	Weak transcription	Brain Germinal Matrix	brain
27	chr12:64334800-64338200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:64334800-64338200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:64334800-64338200	Weak transcription	Lung	lung
30	chr12:64334800-64338200	Weak transcription	HUVEC	blood vessel
31	chr12:64334800-64338400	Enhancers	Brain Hippocampus Middle	brain
32	chr12:64334800-64338400	Weak transcription	Left Ventricle	heart
33	chr12:64334800-64338400	Weak transcription	Psoas Muscle	Psoas
34	chr12:64334800-64338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:64334800-64339400	Weak transcription	Ovary	ovary
36	chr12:64334800-64343600	Weak transcription	Stomach Mucosa	stomach
37	chr12:64334800-64344000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:64334800-64344000	Weak transcription	Fetal Kidney	kidney
39	chr12:64334800-64349800	Weak transcription	Right Atrium	heart
40	chr12:64334800-64349800	Weak transcription	HSMMtube	muscle
41	chr12:64335400-64338000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:64335400-64338400	Weak transcription	Fetal Lung	lung
43	chr12:64335600-64339400	Weak transcription	NHEK	skin
44	chr12:64335600-64340400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:64335800-64338400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:64335800-64340400	Enhancers	Brain Anterior Caudate	brain
47	chr12:64335800-64343600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:64335800-64343800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:64336000-64338200	Weak transcription	A549	lung
50	chr12:64336400-64338200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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