Variant report

Variant	rs11776488
Chromosome Location	chr8:96112401-96112402
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	ARID3A	chr8:96112153-96114204	HepG2	liver:	n/a	chr8:96113369-96113385
2	JUN	chr8:96112353-96112887	K562	blood:	n/a	chr8:96112645-96112654
3	IRF1	chr8:96111898-96114062	K562	blood:	n/a	chr8:96112761-96112778 chr8:96112767-96112781 chr8:96112766-96112780 chr8:96112766-96112777 chr8:96112764-96112778 chr8:96112765-96112779 chr8:96112766-96112779 chr8:96112763-96112777 chr8:96112767-96112777 chr8:96112765-96112776 chr8:96113443-96113452 chr8:96112766-96112779 chr8:96112766-96112779
4	MYC	chr8:96112297-96112495	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr8:96112173-96114017	MCF10A-Er-Src	breast:	n/a	chr8:96113529-96113537 chr8:96112766-96112777 chr8:96112367-96112375
6	FOS	chr8:96112195-96114096	MCF10A-Er-Src	breast:	n/a	chr8:96112645-96112654 chr8:96113393-96113403 chr8:96113453-96113464 chr8:96113393-96113403 chr8:96113455-96113464
7	FOS	chr8:96112231-96114057	MCF10A-Er-Src	breast:	n/a	chr8:96112645-96112654 chr8:96113393-96113403 chr8:96113453-96113464 chr8:96113393-96113403 chr8:96113455-96113464
8	ZNF384	chr8:96112234-96113213	GM12878	blood:	n/a	n/a
9	FOXA2	chr8:96112206-96113727	HepG2	liver:	n/a	chr8:96112777-96112789
10	JUN	chr8:96112197-96113624	HUVEC	blood vessel:	n/a	chr8:96112645-96112654 chr8:96113393-96113403 chr8:96113393-96113403 chr8:96113455-96113464
11	NFIC	chr8:96112343-96113720	HepG2	liver:	n/a	n/a
12	STAT3	chr8:96112236-96113490	MCF10A-Er-Src	breast:	n/a	chr8:96112766-96112777 chr8:96112367-96112375
13	SMC3	chr8:96112331-96113236	GM12878	blood:	n/a	n/a
14	NFIC	chr8:96112355-96113546	GM12878	blood:	n/a	n/a
15	STAT3	chr8:96112217-96113594	MCF10A-Er-Src	breast:	n/a	chr8:96113529-96113537 chr8:96112766-96112777 chr8:96112367-96112375
16	POLR2A	chr8:96112178-96113666	HepG2	liver:	n/a	n/a
17	RUNX3	chr8:96112260-96113606	GM12878	blood:	n/a	n/a
18	STAT3	chr8:96112261-96113508	Hela-S3	cervix:	n/a	chr8:96112766-96112777 chr8:96112367-96112375
19	STAT3	chr8:96112175-96114017	MCF10A-Er-Src	breast:	n/a	chr8:96113529-96113537 chr8:96112766-96112777 chr8:96112367-96112375
20	TBP	chr8:96112319-96113475	Hela-S3	cervix:	n/a	n/a
21	FOS	chr8:96112160-96114106	HUVEC	blood vessel:	n/a	chr8:96112645-96112654 chr8:96113393-96113403 chr8:96113453-96113464 chr8:96113393-96113403 chr8:96113455-96113464
22	IKZF1	chr8:96112304-96113350	GM12878	blood:	n/a	n/a
23	FOS	chr8:96112124-96114096	MCF10A-Er-Src	breast:	n/a	chr8:96112645-96112654 chr8:96113393-96113403 chr8:96113453-96113464 chr8:96113393-96113403 chr8:96113455-96113464
24	EP300	chr8:96112390-96113132	GM12878	blood:	n/a	chr8:96112762-96112776 chr8:96112643-96112652
25	TBL1XR1	chr8:96112280-96113292	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:96112217-96113676	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96109979..96112421-chr8:96207106..96209124,2	MCF-7	breast:
2	chr8:96107778..96115564-chr8:96144421..96149353,22	MCF-7	breast:
3	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
4	chr8:95909127..95911685-chr8:96110779..96112456,2	MCF-7	breast:
5	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
6	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

Variant related genes	Relation type
NDUFAF6	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1000285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1000286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091897	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093559	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096848	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774506	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777952	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778009	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781447	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs11782021	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782155	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11784746	0.82[CHB][hapmap]
rs12543421	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs12548426	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs13248868	0.80[ASN][1000 genomes]
rs13251032	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs13251759	0.82[CHB][hapmap]
rs13273307	0.80[ASN][1000 genomes]
rs1451711	0.82[CHB][hapmap]
rs1451712	0.82[CHB][hapmap]
rs16917325	0.91[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1946944	0.82[CHB][hapmap]
rs2341400	0.80[ASN][1000 genomes]
rs2880033	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34681252	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34901613	0.80[ASN][1000 genomes]
rs4236831	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs4321970	0.82[ASN][1000 genomes]
rs4323439	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs4329243	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs4540384	0.82[CHB][hapmap]
rs4734298	0.82[CHB][hapmap]
rs4734299	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs6987762	0.82[ASN][1000 genomes]
rs6992774	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008347	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs7010205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73262476	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96100400-96113600	Weak transcription	Lung	lung
2	chr8:96107800-96113400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:96108200-96113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:96110800-96112600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:96111000-96112600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr8:96111000-96113000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:96111400-96112600	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:96111400-96112600	Enhancers	Fetal Intestine Large	intestine
9	chr8:96111400-96113400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:96111600-96112600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:96111600-96112600	Enhancers	Thymus	Thymus
12	chr8:96111600-96112800	Enhancers	Fetal Intestine Small	intestine
13	chr8:96111600-96113200	Enhancers	Fetal Muscle Leg	muscle
14	chr8:96111600-96113800	Enhancers	Fetal Thymus	thymus
15	chr8:96111600-96113800	Enhancers	Pancreas	Pancrea
16	chr8:96111600-96114000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:96111600-96114200	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:96111600-96114200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:96111600-96114600	Enhancers	HMEC	breast
20	chr8:96111800-96112600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:96111800-96112800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:96111800-96112800	Enhancers	Colonic Mucosa	Colon
23	chr8:96111800-96112800	Enhancers	Fetal Stomach	stomach
24	chr8:96111800-96113600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:96111800-96113800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:96111800-96114000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:96112000-96112600	Enhancers	Primary T cells from cord blood	blood
28	chr8:96112000-96112600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:96112000-96112600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:96112000-96112600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr8:96112000-96112800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:96112000-96112800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:96112000-96112800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:96112000-96113000	Enhancers	Primary B cells from cord blood	blood
35	chr8:96112000-96113000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:96112000-96113000	Enhancers	Brain Hippocampus Middle	brain
37	chr8:96112000-96113000	Enhancers	Brain Substantia Nigra	brain
38	chr8:96112000-96113000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:96112000-96113200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:96112000-96113200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:96112000-96113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:96112000-96113400	Enhancers	Colon Smooth Muscle	Colon
43	chr8:96112000-96113600	Enhancers	Placenta	Placenta
44	chr8:96112000-96113800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:96112000-96113800	Flanking Active TSS	HUVEC	blood vessel
46	chr8:96112000-96113800	Flanking Active TSS	NH-A	brain
47	chr8:96112000-96113800	Enhancers	NHDF-Ad	bronchial
48	chr8:96112000-96114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:96112000-96114600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:96112200-96112600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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