Variant report

Variant	rs3102431
Chromosome Location	chr8:107684531-107684532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107679723..107681395-chr8:107684179..107686589,2	MCF-7	breast:
2	chr8:107669240..107670746-chr8:107683326..107685917,3	MCF-7	breast:
3	chr8:107678069..107680134-chr8:107683675..107685585,2	K562	blood:

Variant related genes	Relation type
ENSG00000164830	Chromatin interaction
ENSG00000253582	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11988518	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11996457	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12676199	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1542644	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1954790	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2126579	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2881423	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3101531	0.85[ASN][1000 genomes]
rs3101532	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101533	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101534	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101538	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3101539	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102432	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102434	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3110429	0.95[ASN][1000 genomes]
rs3132806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132807	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134127	0.91[ASN][1000 genomes]
rs3134129	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469077	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6983111	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7000202	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817274	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1799660	chr8:107679505-107689755	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	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	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:107671200-107697200	Weak transcription	HSMM	muscle
3	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
4	chr8:107672400-107685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
11	chr8:107673000-107684800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:107674400-107685800	Weak transcription	Fetal Stomach	stomach
13	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:107676200-107685800	Weak transcription	Esophagus	oesophagus
15	chr8:107676200-107685800	Weak transcription	Gastric	stomach
16	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
17	chr8:107677600-107685600	Weak transcription	Fetal Lung	lung
18	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
19	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:107679200-107685800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:107679200-107685800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
23	chr8:107681000-107684800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
25	chr8:107681400-107685800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:107681600-107696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:107681800-107685800	Weak transcription	Liver	Liver
28	chr8:107682200-107696600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:107682600-107685800	Weak transcription	Adipose Nuclei	Adipose
30	chr8:107682800-107685600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:107683000-107686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:107683200-107684800	Weak transcription	Primary B cells from cord blood	blood
33	chr8:107683600-107692800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix

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