Variant report

Variant	rs10481101
Chromosome Location	chr8:103378981-103378982
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103366046..103370520-chr8:103377083..103381143,4	MCF-7	breast:
2	chr8:103377934..103379703-chr8:103388139..103390233,2	MCF-7	breast:
3	chr8:103378550..103380517-chr8:103393852..103396519,2	K562	blood:
4	chr8:103378323..103381200-chr8:103540382..103542243,2	K562	blood:
5	chr8:103377121..103379657-chr8:103423786..103425897,3	MCF-7	breast:
6	chr8:103372607..103375217-chr8:103377451..103380480,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253633	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090363	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10090707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10091086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10098587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10102559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10103923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10104291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10104672	0.94[ASN][1000 genomes]
rs10108510	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10108699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10112713	1.00[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10481100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[ASN][1000 genomes]
rs12114813	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12335330	1.00[JPT][hapmap]
rs12707772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13258207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13267556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2168689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs28421590	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28649712	0.94[ASN][1000 genomes]
rs2925778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2925783	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2925784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2925785	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2925787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2925791	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978424	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978425	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978433	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018507	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3018535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3018536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3018537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs3018542	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3018543	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34265044	0.81[ASN][1000 genomes]
rs55847308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56346553	0.81[ASN][1000 genomes]
rs58208138	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7840202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs9297323	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9649999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
4	chr8:103355000-103379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:103355000-103379400	Weak transcription	Psoas Muscle	Psoas
6	chr8:103355000-103379600	Weak transcription	Right Ventricle	heart
7	chr8:103355000-103380600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:103359800-103379400	Weak transcription	Pancreas	Pancrea
9	chr8:103359800-103380600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:103360200-103379600	Weak transcription	Spleen	Spleen
11	chr8:103360400-103380600	Weak transcription	Esophagus	oesophagus
12	chr8:103362200-103379200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:103365400-103379400	Weak transcription	Gastric	stomach
14	chr8:103365400-103387800	Weak transcription	Stomach Mucosa	stomach
15	chr8:103365800-103387600	Weak transcription	Fetal Heart	heart
16	chr8:103366000-103380200	Weak transcription	NHLF	lung
17	chr8:103369800-103379400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
19	chr8:103370000-103379400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:103370000-103379600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:103370000-103386000	Weak transcription	NHEK	skin
22	chr8:103371400-103380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:103371400-103380600	Weak transcription	Lung	lung
24	chr8:103371600-103379400	Weak transcription	Brain Substantia Nigra	brain
25	chr8:103371600-103387200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:103371600-103394400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:103372400-103379400	Weak transcription	Brain Anterior Caudate	brain
28	chr8:103372400-103379400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:103372400-103379600	Weak transcription	Small Intestine	intestine
30	chr8:103372400-103381600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:103372400-103388200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:103372400-103394200	Weak transcription	Thymus	Thymus
33	chr8:103372400-103395200	Weak transcription	Fetal Brain Female	brain
34	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
35	chr8:103372600-103379200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:103372600-103379400	Weak transcription	Ovary	ovary
37	chr8:103372600-103380600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:103372600-103380600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:103372600-103380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:103372600-103393000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:103372600-103393200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:103372800-103379400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:103372800-103379400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:103372800-103379600	Weak transcription	HepG2	liver
45	chr8:103372800-103387800	Weak transcription	HMEC	breast
46	chr8:103372800-103394200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:103372800-103394400	Weak transcription	Brain Germinal Matrix	brain
48	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
50	chr8:103373000-103379200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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