Variant report

Variant	rs7827839
Chromosome Location	chr8:103353730-103353731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103351917..103354522-chr8:103402313..103404781,2	K562	blood:
2	chr8:103351534..103353891-chr8:103354616..103356190,2	K562	blood:
3	chr8:103352538..103354909-chr8:103424446..103426109,2	MCF-7	breast:
4	chr8:103343757..103347850-chr8:103350455..103353849,3	MCF-7	breast:
5	chr8:103353149..103356839-chr8:103357908..103360371,3	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088255	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs10098586	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109588	0.85[EUR][1000 genomes]
rs10505028	0.82[JPT][hapmap]
rs12114277	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13248227	0.93[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap]
rs13281324	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs16869377	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs16869423	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2293983	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2445948	0.84[EUR][1000 genomes]
rs2445949	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445953	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2512408	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512409	0.83[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512412	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2607658	0.83[MEX][hapmap]
rs2607662	0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2853229	0.83[MEX][hapmap]
rs2853233	0.96[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2853236	0.83[CHB][hapmap]
rs2853238	0.96[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3018534	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35582203	0.80[EUR][1000 genomes]
rs36027049	0.83[EUR][1000 genomes]
rs3736653	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs4269511	0.86[JPT][hapmap]
rs4495397	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs4609174	0.81[CHD][hapmap]
rs4617126	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4734619	0.87[CHB][hapmap]
rs6468826	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6987733	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7001644	0.84[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103326000-103354000	Weak transcription	Lung	lung
3	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:103335400-103355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:103335400-103360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:103335400-103361200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:103335400-103361400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:103335400-103363400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr8:103335400-103363800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
12	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:103335800-103355800	Strong transcription	GM12878-XiMat	blood
14	chr8:103335800-103370200	Strong transcription	Dnd41	blood
15	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:103339400-103359000	Weak transcription	Spleen	Spleen
17	chr8:103339600-103354000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:103339600-103359000	Weak transcription	Colonic Mucosa	Colon
19	chr8:103340800-103354000	Weak transcription	Right Ventricle	heart
20	chr8:103340800-103357600	Weak transcription	HSMMtube	muscle
21	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:103341400-103354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:103341400-103355600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:103342200-103357200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:103342200-103357600	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:103344200-103361400	Weak transcription	Right Atrium	heart
27	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:103344600-103364800	Weak transcription	Fetal Heart	heart
29	chr8:103344800-103357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:103344800-103357600	Weak transcription	Esophagus	oesophagus
31	chr8:103345000-103354000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:103345200-103354000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:103345200-103354200	Weak transcription	Left Ventricle	heart
34	chr8:103345200-103357000	Weak transcription	Fetal Kidney	kidney
35	chr8:103345200-103357400	Weak transcription	Ovary	ovary
36	chr8:103345400-103354000	Weak transcription	Thymus	Thymus
37	chr8:103345400-103355800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:103345400-103358200	Weak transcription	Pancreas	Pancrea
39	chr8:103345400-103364800	Weak transcription	Stomach Mucosa	stomach
40	chr8:103345400-103365000	Weak transcription	Gastric	stomach
41	chr8:103345400-103372000	Weak transcription	Small Intestine	intestine
42	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
43	chr8:103345800-103355800	Strong transcription	Liver	Liver
44	chr8:103346000-103355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:103346400-103357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:103346400-103373200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:103346600-103363400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:103347000-103357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:103347200-103360200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:103347400-103373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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