Variant report

Variant	rs17431911
Chromosome Location	chr7:39850859-39850860
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39849762..39852736-chr7:39853685..39855413,2	K562	blood:
2	chr7:39850013..39852934-chr7:39855133..39858067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237251	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1016303	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265629	1.00[ASN][1000 genomes]
rs10951614	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11761787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701767	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701768	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701769	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223851	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235149	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558072	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602794	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720341	1.00[ASN][1000 genomes]
rs4723909	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6976983	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977124	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71536652	1.00[ASN][1000 genomes]
rs917199	0.83[AMR][1000 genomes];0.82[EUR][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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv5708	chr7:39814330-39855535	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39849400-39851800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:39849600-39851000	Enhancers	Fetal Intestine Small	intestine
3	chr7:39849800-39851000	Enhancers	Fetal Intestine Large	intestine
4	chr7:39849800-39851000	Enhancers	Left Ventricle	heart
5	chr7:39849800-39851200	Enhancers	Esophagus	oesophagus
6	chr7:39849800-39851400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:39849800-39851800	Enhancers	Placenta	Placenta
8	chr7:39849800-39852000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:39850000-39851000	Enhancers	Osteobl	bone
10	chr7:39850000-39851600	Enhancers	Fetal Muscle Leg	muscle
11	chr7:39850000-39851800	Enhancers	Fetal Muscle Trunk	muscle
12	chr7:39850200-39851400	Enhancers	K562	blood
13	chr7:39850400-39851000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:39850400-39851000	Enhancers	Fetal Kidney	kidney
15	chr7:39850400-39851200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:39850400-39851200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:39850400-39851200	Flanking Active TSS	HMEC	breast
18	chr7:39850400-39851400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:39850400-39851400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:39850400-39851600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:39850400-39851600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:39850600-39851000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:39850600-39851200	Enhancers	Fetal Stomach	stomach
24	chr7:39850600-39851200	Enhancers	NH-A	brain
25	chr7:39850600-39851400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:39850600-39851400	Enhancers	A549	lung
27	chr7:39850600-39853600	Weak transcription	Right Atrium	heart
28	chr7:39850800-39851000	Enhancers	Right Ventricle	heart
29	chr7:39850800-39851000	Flanking Active TSS	NHEK	skin
30	chr7:39850800-39851200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:39850800-39851200	Enhancers	Colon Smooth Muscle	Colon
32	chr7:39850800-39851200	Enhancers	HSMMtube	muscle
33	chr7:39850800-39851400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:39850800-39851400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:39850800-39851400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:39850800-39851400	Enhancers	Adipose Nuclei	Adipose
37	chr7:39850800-39851400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:39850800-39851400	Bivalent Enhancer	Fetal Lung	lung
39	chr7:39850800-39851400	Enhancers	Hela-S3	cervix
40	chr7:39850800-39851600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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