Variant report

Variant	rs670080
Chromosome Location	chr6:164386872-164386873
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164386071..164388210-chr6:164391246..164393203,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12189842	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12207355	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs572989	0.83[EUR][1000 genomes]
rs57512711	0.83[EUR][1000 genomes]
rs593254	0.83[EUR][1000 genomes]
rs607252	0.83[EUR][1000 genomes]
rs6455930	0.81[EUR][1000 genomes]
rs7754718	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830858	chr6:164296054-164455743	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164380000-164393600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:164380800-164393000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:164381600-164392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:164381800-164387000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:164381800-164387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:164382000-164387000	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:164383800-164389200	Enhancers	Brain Germinal Matrix	brain
8	chr6:164383800-164389200	Enhancers	Fetal Heart	heart
9	chr6:164384400-164387600	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:164385600-164387400	Enhancers	Fetal Stomach	stomach
11	chr6:164386000-164387400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:164386200-164387000	Enhancers	Psoas Muscle	Psoas
13	chr6:164386200-164387600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:164386200-164387600	Enhancers	Fetal Kidney	kidney
15	chr6:164386400-164387000	Enhancers	Brain Angular Gyrus	brain
16	chr6:164386400-164387400	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:164386400-164387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:164386400-164387400	Enhancers	Fetal Muscle Leg	muscle
19	chr6:164386600-164387000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:164386600-164387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:164386600-164387400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:164386600-164387400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:164386600-164387400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:164386600-164387400	Enhancers	Fetal Brain Male	brain
25	chr6:164386600-164387400	Enhancers	Fetal Intestine Small	intestine
26	chr6:164386600-164387600	Enhancers	HUVEC	blood vessel
27	chr6:164386600-164388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:164386800-164387000	Enhancers	Left Ventricle	heart
29	chr6:164386800-164387000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr6:164386800-164387200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:164386800-164387400	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:164386800-164387400	Enhancers	Brain Anterior Caudate	brain
33	chr6:164386800-164387400	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr6:164386800-164387400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr6:164386800-164388000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:164386800-164388800	Enhancers	Pancreatic Islets	Pancreatic Islet

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