Variant report

Variant	rs11785172
Chromosome Location	chr8:131317239-131317240
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	chr8:131313445..131319102-chr8:131321325..131324984,6	MCF-7	breast:
2	chr8:131310179..131312466-chr8:131317225..131319593,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs11774346	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11774686	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775172	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11776262	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes]
rs11777289	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs11777909	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778712	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778881	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11781912	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11784988	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11785125	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11785286	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11785806	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs11786205	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes]
rs4319146	1.00[AFR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57315235	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6981861	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6982030	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992270	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722363	0.81[AMR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722393	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724412	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724490	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726240	0.81[AMR][1000 genomes]
rs72726241	0.87[AMR][1000 genomes]
rs72726244	0.87[AMR][1000 genomes]
rs7826256	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7836273	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs929990	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131302600-131317400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:131306000-131321600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
5	chr8:131310800-131328200	Weak transcription	Lung	lung
6	chr8:131311600-131317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:131311600-131319200	Enhancers	NHDF-Ad	bronchial
8	chr8:131311600-131321600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:131312200-131317800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:131312200-131318400	Weak transcription	Primary B cells from cord blood	blood
11	chr8:131312600-131320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:131313200-131320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:131313200-131321200	Weak transcription	GM12878-XiMat	blood
14	chr8:131313400-131319600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:131313400-131335000	Weak transcription	Pancreas	Pancrea
16	chr8:131314200-131317400	Enhancers	Liver	Liver
17	chr8:131315000-131318000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:131315000-131318200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:131315000-131321000	Weak transcription	Spleen	Spleen
20	chr8:131315200-131318800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:131315400-131317600	Weak transcription	Right Ventricle	heart
22	chr8:131315400-131318400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:131315400-131318400	Weak transcription	HepG2	liver
24	chr8:131315400-131320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:131315400-131321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:131315400-131321600	Weak transcription	Gastric	stomach
27	chr8:131315400-131321600	Weak transcription	Right Atrium	heart
28	chr8:131315400-131323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:131315400-131323000	Weak transcription	Brain Angular Gyrus	brain
30	chr8:131315400-131323000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:131315400-131323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:131315400-131324200	Weak transcription	Fetal Lung	lung
33	chr8:131315400-131324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:131315400-131325000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:131315400-131326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:131315400-131326000	Weak transcription	Placenta	Placenta
37	chr8:131315600-131318000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:131315600-131318200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:131315600-131318800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:131315600-131318800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:131315600-131319200	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:131315600-131319600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:131315600-131319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:131315600-131319600	Weak transcription	Small Intestine	intestine
45	chr8:131315600-131319800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:131315600-131319800	Weak transcription	Adipose Nuclei	Adipose
47	chr8:131315600-131321200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131315600-131321600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:131315600-131321800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:131315600-131322800	Weak transcription	NH-A	brain

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