Variant report

Variant	rs73257231
Chromosome Location	chr6:166973250-166973251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166970917..166973753-chr6:166974346..166977201,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11961434	0.82[AMR][1000 genomes]
rs11963778	0.81[AMR][1000 genomes]
rs11963921	0.82[AMR][1000 genomes]
rs11964417	0.82[AMR][1000 genomes]
rs11969174	1.00[ASN][1000 genomes]
rs11970618	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16899080	0.82[AMR][1000 genomes]
rs16899084	0.82[AMR][1000 genomes]
rs16899091	0.82[AMR][1000 genomes]
rs16899105	0.82[AMR][1000 genomes]
rs16899148	1.00[ASN][1000 genomes]
rs16899153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3778414	0.82[AMR][1000 genomes]
rs4490642	0.82[AMR][1000 genomes]
rs57001200	1.00[AMR][1000 genomes]
rs58032331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59815364	0.82[AMR][1000 genomes]
rs6905167	0.82[AMR][1000 genomes]
rs6917139	1.00[ASN][1000 genomes]
rs6936351	0.82[AMR][1000 genomes]
rs73255153	0.82[AMR][1000 genomes]
rs73255159	0.82[AMR][1000 genomes]
rs73255165	0.82[AMR][1000 genomes]
rs73255166	0.82[AMR][1000 genomes]
rs73257242	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166966000-166973600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:166966000-166974200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:166966200-166978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:166968400-166985800	Weak transcription	Fetal Kidney	kidney
5	chr6:166968800-166973800	Enhancers	HMEC	breast
6	chr6:166969000-166973800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:166969000-166974000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:166969400-166978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:166970200-166976200	Weak transcription	Right Ventricle	heart
10	chr6:166970800-166974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:166970800-166979800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:166970800-166986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:166971000-166973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:166971000-166973400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:166971000-166973400	Weak transcription	Ovary	ovary
16	chr6:166971000-166974000	Enhancers	Osteobl	bone
17	chr6:166971000-166974800	Weak transcription	Psoas Muscle	Psoas
18	chr6:166971000-166974800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:166971000-166975600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:166971000-166976600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:166971000-166986000	Weak transcription	Pancreas	Pancrea
22	chr6:166971400-166980200	Weak transcription	Brain Anterior Caudate	brain
23	chr6:166972000-166973400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr6:166972000-166973400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:166972200-166976200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:166972200-166976200	Weak transcription	Right Atrium	heart
27	chr6:166972200-166979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:166972200-166986000	Weak transcription	Gastric	stomach
29	chr6:166972400-166973800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:166972400-166974000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:166972400-166974000	Weak transcription	Esophagus	oesophagus
32	chr6:166972400-166974600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:166972400-166974600	Weak transcription	Fetal Stomach	stomach
34	chr6:166972400-166974600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:166972400-166974800	Weak transcription	Left Ventricle	heart
36	chr6:166972400-166974800	Weak transcription	NHLF	lung
37	chr6:166972400-166979200	Weak transcription	NHEK	skin
38	chr6:166972600-166973800	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr6:166972600-166976400	Weak transcription	HUVEC	blood vessel
40	chr6:166972800-166973400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:166972800-166973800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:166972800-166973800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr6:166973000-166973400	Weak transcription	HSMMtube	muscle
44	chr6:166973000-166973600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:166973000-166973800	Weak transcription	Primary B cells from cord blood	blood
46	chr6:166973000-166974800	Weak transcription	Lung	lung
47	chr6:166973000-166979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:166973200-166973400	Weak transcription	HSMM	muscle
49	chr6:166973200-166973800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:166973200-166975800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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