Variant report

Variant	rs11778107
Chromosome Location	chr8:103249693-103249694
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	CHD1	chr8:103248792-103252333	IMR90	lung:	n/a	chr8:103251203-103251213
2	STAT3	chr8:103248816-103249901	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119
3	STAT3	chr8:103248790-103249907	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119
4	WRNIP1	chr8:103249643-103249796	GM12878	blood:	n/a	n/a
5	HCFC1	chr8:103249628-103252196	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:103248763-103252162	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:103248979-103252107	IMR90	lung:	n/a	n/a
8	POLR2A	chr8:103248497-103249913	GM12878	blood:	n/a	n/a
9	CHD1	chr8:103248610-103251204	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:103248725-103251275	GM12891	blood:	n/a	n/a
11	POLR2A	chr8:103248842-103251256	GM12878	blood:	n/a	n/a
12	STAT3	chr8:103248875-103250310	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119
13	POLR2A	chr8:103248887-103252665	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:102504608..102506883-chr8:103249593..103253284,4	MCF-7	breast:
2	chr8:103249647..103255113-chr8:103258766..103269094,16	K562	blood:
3	chr8:102505170..102507558-chr8:103249030..103250734,2	MCF-7	breast:
4	chr6:126307907..126309585-chr8:103249281..103251409,2	MCF-7	breast:
5	chr8:103248705..103250283-chr8:103601762..103604480,2	K562	blood:
6	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:
7	chr8:103249660..103252444-chr8:103873911..103876787,3	K562	blood:
8	chr12:120729699..120731594-chr8:103249371..103251241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246263	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000066651	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1037699	0.82[EUR][1000 genomes]
rs1037700	0.84[EUR][1000 genomes]
rs10505019	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1052069	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1052071	0.85[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11774420	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774459	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776865	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11777942	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783467	0.93[ASN][1000 genomes]
rs11784180	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784534	0.81[ASN][1000 genomes]
rs11785514	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11786397	0.81[ASN][1000 genomes]
rs16869246	1.00[YRI][hapmap]
rs16869269	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16869276	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869282	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16869295	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16918482	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2387995	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928571	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928592	0.93[ASN][1000 genomes]
rs28928597	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28999671	0.93[ASN][1000 genomes]
rs28999676	0.93[ASN][1000 genomes]
rs28999706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000274	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000286	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs29000294	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35693157	0.88[EUR][1000 genomes]
rs3735720	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3735721	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3735722	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3907099	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4329248	0.81[ASN][1000 genomes]
rs5005121	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57901015	0.81[ASN][1000 genomes]
rs60604862	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836046	1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103231600-103249800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103234600-103250000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:103241000-103250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:103241000-103250400	Weak transcription	Esophagus	oesophagus
5	chr8:103241400-103250600	Weak transcription	Spleen	Spleen
6	chr8:103243400-103249800	Weak transcription	Fetal Kidney	kidney
7	chr8:103243600-103250200	Weak transcription	Placenta	Placenta
8	chr8:103243800-103249800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:103244000-103249800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:103244400-103250400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:103248000-103250000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:103248000-103250200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:103248000-103250800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:103248200-103250000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:103248200-103250000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:103248200-103250000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:103248200-103250000	Enhancers	Adipose Nuclei	Adipose
18	chr8:103248200-103250000	Enhancers	Brain Angular Gyrus	brain
19	chr8:103248400-103249800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr8:103248400-103249800	Enhancers	Small Intestine	intestine
21	chr8:103248400-103250000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:103248400-103250200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:103248400-103250200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:103248400-103250600	Flanking Active TSS	Osteobl	bone
25	chr8:103248600-103249800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:103248600-103249800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:103248600-103249800	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:103248600-103249800	Enhancers	Fetal Heart	heart
29	chr8:103248600-103249800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:103248600-103250000	Flanking Active TSS	HSMMtube	muscle
31	chr8:103248600-103250200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:103248600-103250200	Flanking Active TSS	A549	lung
33	chr8:103248600-103250600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr8:103248600-103250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr8:103248600-103250800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr8:103248600-103250800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr8:103248800-103249800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:103248800-103249800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:103248800-103249800	Flanking Active TSS	HMEC	breast
40	chr8:103248800-103250000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:103248800-103250000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:103248800-103250000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr8:103248800-103250000	Enhancers	Liver	Liver
44	chr8:103248800-103250200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:103248800-103250200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:103248800-103250200	Enhancers	Fetal Lung	lung
47	chr8:103248800-103250200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:103248800-103250400	Flanking Active TSS	NH-A	brain
49	chr8:103248800-103250600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:103248800-103250600	Flanking Active TSS	NHEK	skin

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