Variant report

Variant	rs4876791
Chromosome Location	chr8:119115467-119115468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119111299..119112832-chr8:119114970..119116510,2	MCF-7	breast:
2	chr8:119110587..119114764-chr8:119114883..119119035,6	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10755915	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808492	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808494	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955855	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955856	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548404	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12675013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270513	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs1811528	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3757991	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876400	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469721	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469722	0.81[ASN][1000 genomes]
rs6991511	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993268	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008536	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7010382	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011384	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014053	0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7818011	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835605	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835956	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7837824	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs897828	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897830	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv932638	chr8:119111068-119115831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
5	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:119107200-119119400	Weak transcription	Fetal Kidney	kidney
9	chr8:119109800-119115800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:119110000-119118200	Genic enhancers	Liver	Liver
11	chr8:119110600-119115600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:119110600-119115600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:119110600-119115800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:119110600-119119600	Weak transcription	Brain Anterior Caudate	brain
15	chr8:119110600-119119600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:119111400-119118600	Weak transcription	HSMMtube	muscle
17	chr8:119111600-119119800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:119111800-119118200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:119111800-119118400	Weak transcription	Fetal Brain Female	brain
20	chr8:119112000-119117000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:119112000-119118200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:119112200-119116400	Weak transcription	Hela-S3	cervix
23	chr8:119112200-119116800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:119112200-119117200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:119112200-119117200	Weak transcription	Colonic Mucosa	Colon
26	chr8:119112200-119118000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:119112200-119118600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:119112200-119119600	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:119112200-119120800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:119112400-119115600	Weak transcription	Esophagus	oesophagus
31	chr8:119112400-119115800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:119112400-119117000	Weak transcription	Fetal Heart	heart
33	chr8:119112400-119117200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:119112400-119117200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:119112400-119118000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr8:119112400-119119600	Weak transcription	Right Ventricle	heart
37	chr8:119112400-119119600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:119112400-119119800	Weak transcription	Primary B cells from cord blood	blood
39	chr8:119112400-119120600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:119112400-119120600	Weak transcription	Placenta	Placenta
41	chr8:119112400-119120600	Weak transcription	Thymus	Thymus
42	chr8:119112400-119120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:119112600-119115600	Weak transcription	HepG2	liver
44	chr8:119112600-119117000	Weak transcription	Gastric	stomach
45	chr8:119112600-119117200	Weak transcription	Fetal Thymus	thymus
46	chr8:119112600-119117800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:119112600-119118600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:119112600-119118800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:119112600-119119800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:119112800-119115800	Weak transcription	Lung	lung

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