Variant report

Variant	rs73285216
Chromosome Location	chr8:103354607-103354608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103354174..103356522-chr8:103413215..103415897,2	MCF-7	breast:
2	chr8:103354163..103355932-chr8:103355988..103358425,2	MCF-7	breast:
3	chr8:103352538..103354909-chr8:103424446..103426109,2	MCF-7	breast:
4	chr8:103353149..103356839-chr8:103357908..103360371,3	K562	blood:
5	chr8:103354048..103356355-chr8:103421459..103423886,2	MCF-7	breast:

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]
rs16869317	1.00[EUR][1000 genomes]
rs16869318	1.00[EUR][1000 genomes]
rs16869320	1.00[EUR][1000 genomes]
rs16869360	1.00[EUR][1000 genomes]
rs16869384	1.00[EUR][1000 genomes]
rs16869390	1.00[EUR][1000 genomes]
rs16869421	1.00[EUR][1000 genomes]
rs28927984	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58936362	1.00[EUR][1000 genomes]
rs60133998	1.00[EUR][1000 genomes]
rs60370901	1.00[EUR][1000 genomes]
rs6982960	1.00[EUR][1000 genomes]
rs7002260	1.00[EUR][1000 genomes]
rs7006719	1.00[EUR][1000 genomes]
rs73283367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283374	1.00[EUR][1000 genomes]
rs73283377	1.00[EUR][1000 genomes]
rs73283386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283402	1.00[EUR][1000 genomes]
rs73285212	1.00[EUR][1000 genomes]
rs73285234	1.00[EUR][1000 genomes]
rs73285253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285256	1.00[EUR][1000 genomes]
rs73285272	1.00[EUR][1000 genomes]
rs73285276	1.00[EUR][1000 genomes]
rs73285278	1.00[EUR][1000 genomes]
rs73285292	1.00[EUR][1000 genomes]
rs73285300	1.00[EUR][1000 genomes]
rs7813561	1.00[EUR][1000 genomes]
rs7819190	1.00[EUR][1000 genomes]
rs7844478	1.00[EUR][1000 genomes]
rs7845522	0.83[AMR][1000 genomes];1.00[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	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103335400-103355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:103335400-103360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:103335400-103361200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:103335400-103361400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:103335400-103363400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:103335400-103363800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
11	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:103335800-103355800	Strong transcription	GM12878-XiMat	blood
13	chr8:103335800-103370200	Strong transcription	Dnd41	blood
14	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:103339400-103359000	Weak transcription	Spleen	Spleen
16	chr8:103339600-103359000	Weak transcription	Colonic Mucosa	Colon
17	chr8:103340800-103357600	Weak transcription	HSMMtube	muscle
18	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:103341400-103355600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:103342200-103357200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:103342200-103357600	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:103344200-103361400	Weak transcription	Right Atrium	heart
23	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:103344600-103364800	Weak transcription	Fetal Heart	heart
25	chr8:103344800-103357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:103344800-103357600	Weak transcription	Esophagus	oesophagus
27	chr8:103345200-103357000	Weak transcription	Fetal Kidney	kidney
28	chr8:103345200-103357400	Weak transcription	Ovary	ovary
29	chr8:103345400-103355800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:103345400-103358200	Weak transcription	Pancreas	Pancrea
31	chr8:103345400-103364800	Weak transcription	Stomach Mucosa	stomach
32	chr8:103345400-103365000	Weak transcription	Gastric	stomach
33	chr8:103345400-103372000	Weak transcription	Small Intestine	intestine
34	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
35	chr8:103345800-103355800	Strong transcription	Liver	Liver
36	chr8:103346000-103355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:103346400-103357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:103346400-103373200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:103346600-103363400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:103347000-103357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:103347200-103360200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:103347400-103373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:103348000-103373400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:103348200-103356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:103348200-103358200	Strong transcription	HSMM	muscle
46	chr8:103348200-103364200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:103348600-103364000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:103349000-103355000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr8:103349200-103355000	Strong transcription	Primary B cells from cord blood	blood
50	chr8:103349200-103355200	Strong transcription	Fetal Intestine Large	intestine

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