Variant report

Variant	rs17161420
Chromosome Location	chr7:139900171-139900172
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139899920..139901729-chr7:139912707..139915674,2	K562	blood:
2	chr7:139876054..139878416-chr7:139897628..139900434,3	K562	blood:
3	chr7:139899577..139903157-chr7:139903269..139907420,4	K562	blood:
4	chr7:139879084..139880887-chr7:139897924..139900409,2	K562	blood:
5	chr7:139882899..139886118-chr7:139896927..139900460,3	K562	blood:

Variant related genes	Relation type
ENSG00000260231	Chromatin interaction
ENSG00000006459	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16882307	1.00[AMR][1000 genomes]
rs17161392	1.00[AMR][1000 genomes]
rs57695125	1.00[AMR][1000 genomes]
rs57746003	1.00[AMR][1000 genomes]
rs60760231	1.00[AMR][1000 genomes]
rs61135242	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139888600-139905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:139895400-139900200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:139897800-139900600	Enhancers	Placenta	Placenta
4	chr7:139899000-139900400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:139899000-139900600	Enhancers	NHEK	skin
6	chr7:139899200-139900400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:139899200-139900400	Enhancers	Stomach Mucosa	stomach
8	chr7:139899200-139900400	Enhancers	HMEC	breast
9	chr7:139899200-139900600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:139899400-139900600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:139899800-139900200	Flanking Active TSS	HUVEC	blood vessel
12	chr7:139899800-139900400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:139899800-139900400	Flanking Active TSS	NH-A	brain
14	chr7:139899800-139900400	Flanking Active TSS	NHDF-Ad	bronchial
15	chr7:139899800-139900600	Flanking Active TSS	K562	blood
16	chr7:139900000-139900200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:139900000-139900200	Enhancers	Brain Anterior Caudate	brain
18	chr7:139900000-139900200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr7:139900000-139900200	Active TSS	Stomach Smooth Muscle	stomach
20	chr7:139900000-139900200	Flanking Active TSS	HepG2	liver
21	chr7:139900000-139900200	Flanking Active TSS	HSMM	muscle
22	chr7:139900000-139900400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:139900000-139900400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:139900000-139900400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:139900000-139900400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:139900000-139900400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr7:139900000-139900400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:139900000-139900400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:139900000-139900400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:139900000-139900400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:139900000-139900400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr7:139900000-139900400	Enhancers	Aorta	Aorta
33	chr7:139900000-139900400	Enhancers	Lung	lung
34	chr7:139900000-139900400	Enhancers	Right Atrium	heart
35	chr7:139900000-139900400	Flanking Active TSS	A549	lung
36	chr7:139900000-139900400	Flanking Active TSS	Hela-S3	cervix
37	chr7:139900000-139900400	Enhancers	NHLF	lung
38	chr7:139900000-139900400	Flanking Active TSS	Osteobl	bone

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