Variant report

Variant	rs7001644
Chromosome Location	chr8:103374920-103374921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:103374889-103374941	K562	blood:	n/a	n/a
2	STAT3	chr8:103374829-103374959	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103363082..103364841-chr8:103374686..103377260,2	K562	blood:
2	chr8:103363341..103365795-chr8:103374362..103376186,2	K562	blood:
3	chr8:103373687..103375322-chr8:103392779..103395530,2	MCF-7	breast:
4	chr8:103374347..103376516-chr8:103379553..103381548,2	K562	blood:

Variant related genes	Relation type
UBR5	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10088255	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10098586	0.86[EUR][1000 genomes]
rs10481053	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12114277	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2445948	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2445953	0.86[EUR][1000 genomes]
rs2512408	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2512409	0.86[EUR][1000 genomes]
rs2512412	0.82[EUR][1000 genomes]
rs2607662	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2853233	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2853238	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs28552587	0.87[ASN][1000 genomes]
rs3018534	0.82[EUR][1000 genomes]
rs35582203	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4617126	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs5022630	0.83[EUR][1000 genomes]
rs6468826	0.89[CEU][hapmap]
rs6987733	0.88[EUR][1000 genomes]
rs7827839	0.84[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
6	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
7	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
8	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
5	chr8:103354000-103378400	Weak transcription	Fetal Brain Male	brain
6	chr8:103355000-103379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:103355000-103379400	Weak transcription	Psoas Muscle	Psoas
8	chr8:103355000-103379600	Weak transcription	Right Ventricle	heart
9	chr8:103355000-103380600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:103359400-103375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:103359800-103377800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:103359800-103379400	Weak transcription	Pancreas	Pancrea
13	chr8:103359800-103380600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:103360200-103379600	Weak transcription	Spleen	Spleen
15	chr8:103360400-103380600	Weak transcription	Esophagus	oesophagus
16	chr8:103361600-103377400	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:103362200-103379200	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:103363600-103375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:103365400-103379400	Weak transcription	Gastric	stomach
20	chr8:103365400-103387800	Weak transcription	Stomach Mucosa	stomach
21	chr8:103365800-103387600	Weak transcription	Fetal Heart	heart
22	chr8:103366000-103380200	Weak transcription	NHLF	lung
23	chr8:103369800-103379400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
25	chr8:103370000-103379400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:103370000-103379600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:103370000-103386000	Weak transcription	NHEK	skin
28	chr8:103371400-103380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:103371400-103380600	Weak transcription	Lung	lung
30	chr8:103371600-103378400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:103371600-103379400	Weak transcription	Brain Substantia Nigra	brain
32	chr8:103371600-103387200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:103371600-103394400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:103372400-103376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:103372400-103377400	Weak transcription	Fetal Stomach	stomach
36	chr8:103372400-103379400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:103372400-103379400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:103372400-103379600	Weak transcription	Small Intestine	intestine
39	chr8:103372400-103381600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:103372400-103388200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:103372400-103394200	Weak transcription	Thymus	Thymus
42	chr8:103372400-103395200	Weak transcription	Fetal Brain Female	brain
43	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
44	chr8:103372600-103376400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:103372600-103376400	Weak transcription	Left Ventricle	heart
46	chr8:103372600-103378200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:103372600-103378400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:103372600-103378600	Weak transcription	Fetal Lung	lung
49	chr8:103372600-103379200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:103372600-103379400	Weak transcription	Ovary	ovary

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