Variant report

Variant	rs11780830
Chromosome Location	chr8:121483480-121483481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121481546..121483918-chr8:121486505..121488049,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098436	0.96[ASN][1000 genomes]
rs10109431	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955971	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs1129080	0.91[ASN][1000 genomes]
rs1129353	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs11781786	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12545308	0.91[ASN][1000 genomes]
rs12546007	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12674727	0.99[ASN][1000 genomes]
rs12675235	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12676755	0.96[ASN][1000 genomes]
rs12678531	1.00[ASN][1000 genomes]
rs12678788	0.98[ASN][1000 genomes]
rs12680641	0.96[ASN][1000 genomes]
rs13252173	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263962	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16893976	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2429	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs4242313	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4448321	0.93[ASN][1000 genomes]
rs4452825	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4463470	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565499	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4573322	0.93[ASN][1000 genomes]
rs4590476	0.91[ASN][1000 genomes]
rs4871067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61203971	0.98[ASN][1000 genomes]
rs61424477	0.87[ASN][1000 genomes]
rs6415474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469920	0.89[ASN][1000 genomes]
rs6469921	0.89[ASN][1000 genomes]
rs6984090	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6985660	0.98[ASN][1000 genomes]
rs7002445	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7015443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73315165	0.98[ASN][1000 genomes]
rs73315171	0.98[ASN][1000 genomes]
rs73315174	1.00[ASN][1000 genomes]
rs73315182	1.00[ASN][1000 genomes]
rs7812590	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814949	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818026	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs7819405	0.91[ASN][1000 genomes]
rs7826906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832933	0.98[ASN][1000 genomes]
rs7834496	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs7835198	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs7835363	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs9297619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650081	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
3	chr8:121458400-121484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:121458400-121484600	Weak transcription	Small Intestine	intestine
5	chr8:121458400-121485400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:121458400-121501000	Weak transcription	Ovary	ovary
9	chr8:121458600-121484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:121458600-121484000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:121458600-121484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:121458600-121484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:121458600-121484400	Weak transcription	Brain Substantia Nigra	brain
14	chr8:121458600-121486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
16	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:121458800-121484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:121458800-121484800	Weak transcription	Adipose Nuclei	Adipose
20	chr8:121458800-121489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:121458800-121491000	Weak transcription	HMEC	breast
22	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
23	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
24	chr8:121458800-121510400	Weak transcription	NHLF	lung
25	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:121459000-121485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:121459000-121485600	Weak transcription	K562	blood
28	chr8:121459000-121486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:121459600-121484800	Weak transcription	GM12878-XiMat	blood
31	chr8:121461000-121491000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:121467000-121484400	Weak transcription	HepG2	liver
33	chr8:121467000-121488000	Weak transcription	HSMM	muscle
34	chr8:121468600-121501800	Weak transcription	HUVEC	blood vessel
35	chr8:121469200-121515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:121470000-121502400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:121470400-121491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:121470600-121484200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:121470600-121490400	Weak transcription	Liver	Liver
40	chr8:121470800-121484000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:121472600-121483800	Weak transcription	Psoas Muscle	Psoas
42	chr8:121474600-121485600	Weak transcription	Osteobl	bone
43	chr8:121474600-121488200	Weak transcription	Fetal Lung	lung
44	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:121477600-121484200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:121477800-121503800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:121478200-121488200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:121478400-121486400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:121478600-121486800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:121479000-121483800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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