Variant report

Variant	rs776948
Chromosome Location	chr8:107683251-107683252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107682179..107684259-chr8:107690430..107692278,2	MCF-7	breast:
2	chr8:107680913..107683388-chr8:107685068..107687950,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1580289	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1601249	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1676420	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1681879	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1681904	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1681905	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1784469	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1784472	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1784473	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1784492	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1784494	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2126581	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2282509	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2627788	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2627790	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs725906	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776932	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776933	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776934	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776938	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776939	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs776941	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs776944	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs776946	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776949	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs776950	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776951	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776954	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776960	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776961	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776962	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776963	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs776965	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][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:36 , 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	chr8:107672600-107683600	Weak transcription	Hela-S3	cervix
7	chr8:107672600-107684400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
13	chr8:107673000-107684800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:107674400-107685800	Weak transcription	Fetal Stomach	stomach
15	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:107676200-107685800	Weak transcription	Esophagus	oesophagus
17	chr8:107676200-107685800	Weak transcription	Gastric	stomach
18	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
19	chr8:107677600-107685600	Weak transcription	Fetal Lung	lung
20	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
21	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:107679200-107685800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:107679200-107685800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
25	chr8:107681000-107684800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
27	chr8:107681400-107685800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:107681600-107696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:107681800-107685800	Weak transcription	Liver	Liver
30	chr8:107682200-107696600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:107682600-107683600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr8:107682600-107685800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:107682800-107685600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:107683000-107683600	ZNF genes & repeats	GM12878-XiMat	blood
35	chr8:107683000-107686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:107683200-107684800	Weak transcription	Primary B cells from cord blood	blood

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