Variant report

Variant	rs74099395
Chromosome Location	chr12:64335506-64335507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64319485..64321030-chr12:64334401..64337010,2	K562	blood:

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	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56236229	0.95[AFR][1000 genomes]
rs57074356	1.00[EUR][1000 genomes]
rs57138272	1.00[EUR][1000 genomes]
rs57140731	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57540857	1.00[EUR][1000 genomes]
rs57937852	0.91[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	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099375	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099376	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099377	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099378	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099379	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099380	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099381	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099382	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099383	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099384	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099385	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099392	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099393	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099398	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74099400	1.00[EUR][1000 genomes]
rs7961633	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7961964	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7976142	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7976369	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7977480	1.00[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:71 , 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	chr12:64329000-64336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
8	chr12:64329400-64339400	Weak transcription	HMEC	breast
9	chr12:64329800-64343800	Weak transcription	Osteobl	bone
10	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:64330200-64338400	Weak transcription	Fetal Stomach	stomach
13	chr12:64330400-64346800	Weak transcription	Gastric	stomach
14	chr12:64332000-64335800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:64332000-64339200	Weak transcription	NHLF	lung
16	chr12:64332200-64335800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:64332200-64337200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:64332400-64338600	Weak transcription	Right Ventricle	heart
20	chr12:64333000-64337400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:64333000-64339000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:64333000-64349200	Weak transcription	HSMM	muscle
23	chr12:64333400-64335600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:64334200-64338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:64334400-64335800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:64334600-64335600	Weak transcription	A549	lung
27	chr12:64334600-64335600	Strong transcription	NHEK	skin
28	chr12:64334600-64337400	Weak transcription	HepG2	liver
29	chr12:64334600-64337800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:64334600-64338000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:64334600-64338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:64334600-64343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:64334800-64335600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:64334800-64335800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:64334800-64336000	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:64334800-64336200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:64334800-64336200	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:64334800-64336400	Enhancers	Brain Angular Gyrus	brain
39	chr12:64334800-64336400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:64334800-64337000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:64334800-64337000	Enhancers	Brain Substantia Nigra	brain
42	chr12:64334800-64337000	Enhancers	Fetal Brain Female	brain
43	chr12:64334800-64337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:64334800-64337400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:64334800-64337800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:64334800-64337800	Weak transcription	Placenta	Placenta
47	chr12:64334800-64337800	Weak transcription	Pancreas	Pancrea
48	chr12:64334800-64338000	Weak transcription	Adipose Nuclei	Adipose
49	chr12:64334800-64338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:64334800-64338200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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