Variant report

Variant	rs1971444
Chromosome Location	chr6:4664262-4664263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11242965	0.82[ASN][1000 genomes]
rs11964064	0.80[EUR][1000 genomes]
rs12201817	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12201861	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12213814	0.97[EUR][1000 genomes]
rs1971445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2063678	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073042	0.96[EUR][1000 genomes]
rs2281275	0.96[EUR][1000 genomes]
rs443430	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67325872	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918242	0.96[EUR][1000 genomes]
rs72819438	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742570	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9328267	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328268	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9378408	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9405760	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv528627	chr6:4614058-4731340	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4661400-4664400	Weak transcription	Fetal Stomach	stomach
2	chr6:4661600-4665000	Enhancers	Stomach Smooth Muscle	stomach
3	chr6:4661800-4664400	Weak transcription	Spleen	Spleen
4	chr6:4661800-4664600	Weak transcription	Aorta	Aorta
5	chr6:4662000-4667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:4662000-4667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:4662400-4664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:4662800-4665000	Enhancers	Fetal Muscle Leg	muscle
9	chr6:4663200-4664400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:4663200-4664400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:4663200-4664400	Weak transcription	NH-A	brain
12	chr6:4663200-4664600	Weak transcription	Placenta	Placenta
13	chr6:4663400-4666000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:4663600-4666400	Weak transcription	HSMMtube	muscle
15	chr6:4663800-4665200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:4663800-4666600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:4664000-4665000	Enhancers	Psoas Muscle	Psoas
18	chr6:4664000-4665000	Enhancers	NHDF-Ad	bronchial
19	chr6:4664000-4667000	Enhancers	Osteobl	bone
20	chr6:4664000-4669600	Enhancers	K562	blood
21	chr6:4664200-4664400	Enhancers	Right Atrium	heart
22	chr6:4664200-4664600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:4664200-4664800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:4664200-4664800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:4664200-4664800	Enhancers	NHLF	lung
26	chr6:4664200-4665000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:4664200-4665000	Enhancers	Adipose Nuclei	Adipose
28	chr6:4664200-4665000	Enhancers	Right Ventricle	heart
29	chr6:4664200-4665200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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