Variant report

Variant	rs62398385
Chromosome Location	chr6:37596970-37596971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37575521..37577544-chr6:37596904..37599235,2	K562	blood:
2	chr6:37595649..37598342-chr6:37615831..37618707,2	K562	blood:
3	chr6:37596331..37599746-chr6:37605626..37607934,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62398392	1.00[ASN][1000 genomes]
rs62398393	1.00[ASN][1000 genomes]
rs6924003	1.00[ASN][1000 genomes]
rs7739832	1.00[ASN][1000 genomes]
rs804832	1.00[ASN][1000 genomes]
rs804833	1.00[ASN][1000 genomes]
rs804857	1.00[ASN][1000 genomes]
rs804858	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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv602955	chr6:37581200-37599962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37593400-37598000	Weak transcription	Right Atrium	heart
2	chr6:37593600-37597200	Weak transcription	Hela-S3	cervix
3	chr6:37593600-37597800	Weak transcription	Esophagus	oesophagus
4	chr6:37593600-37598600	Weak transcription	GM12878-XiMat	blood
5	chr6:37593800-37597800	Weak transcription	Spleen	Spleen
6	chr6:37594000-37615400	Weak transcription	Fetal Brain Female	brain
7	chr6:37594200-37602200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:37595600-37597000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr6:37595600-37598800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:37595600-37599200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:37595600-37599200	Enhancers	NHEK	skin
12	chr6:37595600-37599200	Enhancers	NHLF	lung
13	chr6:37595600-37599400	Enhancers	NHDF-Ad	bronchial
14	chr6:37595800-37597000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:37595800-37597200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:37595800-37597200	Enhancers	A549	lung
17	chr6:37595800-37598800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:37595800-37599200	Enhancers	Osteobl	bone
19	chr6:37595800-37599400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:37595800-37599400	Enhancers	HSMM	muscle
21	chr6:37595800-37599400	Enhancers	NH-A	brain
22	chr6:37596000-37597000	Enhancers	Fetal Brain Male	brain
23	chr6:37596000-37597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:37596000-37599000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:37596000-37599200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:37596000-37599400	Enhancers	HUVEC	blood vessel
27	chr6:37596600-37597200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:37596600-37598800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:37596600-37599400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:37596600-37599400	Enhancers	HMEC	breast
31	chr6:37596800-37597000	Enhancers	K562	blood
32	chr6:37596800-37598000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:37596800-37598000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:37596800-37598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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