Variant report

Variant	rs2064196
Chromosome Location	chr6:144587183-144587184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2473128	0.96[EUR][1000 genomes]
rs2502622	0.97[EUR][1000 genomes]
rs2502623	0.97[EUR][1000 genomes]
rs2502624	0.88[EUR][1000 genomes]
rs2502625	0.87[EUR][1000 genomes]
rs2502626	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2502627	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2982241	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6570618	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7767688	0.84[AMR][1000 genomes];0.98[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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144581600-144587200	Weak transcription	Brain Germinal Matrix	brain
2	chr6:144582600-144587400	Weak transcription	Ovary	ovary
3	chr6:144584200-144587400	Weak transcription	Right Ventricle	heart
4	chr6:144584400-144587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:144584600-144587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:144584600-144587800	Enhancers	HUVEC	blood vessel
7	chr6:144584800-144587200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:144585000-144587200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:144585000-144587200	Enhancers	Hela-S3	cervix
10	chr6:144585000-144587400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:144585000-144587600	Enhancers	Fetal Intestine Small	intestine
12	chr6:144585000-144587600	Enhancers	HMEC	breast
13	chr6:144585000-144587800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:144585000-144587800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:144585000-144587800	Enhancers	Fetal Heart	heart
16	chr6:144585000-144587800	Enhancers	Fetal Muscle Leg	muscle
17	chr6:144585000-144587800	Enhancers	NHLF	lung
18	chr6:144585200-144587200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:144585200-144587800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:144585400-144587400	Enhancers	Psoas Muscle	Psoas
21	chr6:144585400-144587800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:144585400-144587800	Enhancers	Liver	Liver
23	chr6:144585400-144588000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:144585600-144587600	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:144585600-144587800	Enhancers	Fetal Intestine Large	intestine
26	chr6:144585800-144587400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:144585800-144587800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:144585800-144587800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:144586000-144587200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:144586000-144587200	Enhancers	Left Ventricle	heart
31	chr6:144586000-144587600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:144586000-144587600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:144586000-144587800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr6:144586000-144587800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:144586000-144587800	Enhancers	Primary B cells from cord blood	blood
36	chr6:144586200-144587200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:144586200-144587200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:144586200-144587200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:144586200-144587200	Weak transcription	Adipose Nuclei	Adipose
40	chr6:144586200-144587200	Weak transcription	Right Atrium	heart
41	chr6:144586200-144587400	Weak transcription	Fetal Kidney	kidney
42	chr6:144586200-144587800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr6:144586200-144587800	Enhancers	Fetal Lung	lung
44	chr6:144586200-144587800	Enhancers	HSMM	muscle
45	chr6:144586200-144587800	Enhancers	NH-A	brain
46	chr6:144586400-144587200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr6:144586400-144587200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:144586400-144587200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:144586400-144587200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:144586400-144587200	Enhancers	HSMMtube	muscle

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