Variant report

Variant	rs11784988
Chromosome Location	chr8:131408709-131408710
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	chr8:131408686..131411047-chr8:131413909..131416189,2	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11774346	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11775172	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11775309	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11775398	0.88[TSI][hapmap]
rs11775609	0.88[AMR][1000 genomes]
rs11776262	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777909	0.88[AMR][1000 genomes]
rs11778072	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11778504	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11778593	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11778712	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11778881	1.00[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes]
rs11779293	1.00[ASW][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs11780644	0.89[TSI][hapmap]
rs11781211	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781912	0.88[AMR][1000 genomes]
rs11783764	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11784477	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11784842	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11785125	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11785172	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11785286	0.88[AMR][1000 genomes]
rs11785806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11786205	0.88[AMR][1000 genomes]
rs34180756	0.80[EUR][1000 genomes]
rs34438161	0.80[EUR][1000 genomes]
rs34492373	0.80[EUR][1000 genomes]
rs34721219	0.80[EUR][1000 genomes]
rs35009497	0.80[EUR][1000 genomes]
rs35104220	0.80[EUR][1000 genomes]
rs35305115	0.80[EUR][1000 genomes]
rs35865490	0.80[EUR][1000 genomes]
rs4301463	0.83[TSI][hapmap]
rs56162445	0.82[AMR][1000 genomes]
rs57213366	0.85[AFR][1000 genomes]
rs57315235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58262391	0.85[AFR][1000 genomes]
rs58498075	0.85[AFR][1000 genomes]
rs58664881	0.85[AFR][1000 genomes]
rs59411017	0.85[AFR][1000 genomes]
rs61578845	0.85[AFR][1000 genomes]
rs6981861	0.88[AMR][1000 genomes]
rs6982030	0.88[AMR][1000 genomes]
rs6991549	0.88[AMR][1000 genomes]
rs6992270	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6997802	0.83[TSI][hapmap]
rs7006802	0.88[AMR][1000 genomes]
rs72722372	0.88[AMR][1000 genomes]
rs72722374	0.88[AMR][1000 genomes]
rs72722375	0.88[AMR][1000 genomes]
rs72722379	0.88[AMR][1000 genomes]
rs72722380	0.88[AMR][1000 genomes]
rs72722381	0.88[AMR][1000 genomes]
rs72722384	0.88[AMR][1000 genomes]
rs72722386	0.88[AMR][1000 genomes]
rs72722388	0.88[AMR][1000 genomes]
rs72722392	0.88[AMR][1000 genomes]
rs72722393	0.88[AMR][1000 genomes]
rs72722394	0.88[AMR][1000 genomes]
rs72722396	0.88[AMR][1000 genomes]
rs72722397	0.88[AMR][1000 genomes]
rs72722399	0.88[AMR][1000 genomes]
rs72724403	0.88[AMR][1000 genomes]
rs72724407	0.88[AMR][1000 genomes]
rs72724412	0.82[AMR][1000 genomes]
rs72724414	0.88[AMR][1000 genomes]
rs72724419	0.88[AMR][1000 genomes]
rs72724421	0.88[AMR][1000 genomes]
rs72724423	0.88[AMR][1000 genomes]
rs72724426	0.88[AMR][1000 genomes]
rs72724437	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724446	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724447	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724449	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724450	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724451	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724452	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72724453	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724454	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724455	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724460	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72724461	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72724472	0.80[EUR][1000 genomes]
rs72724473	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72724475	0.80[EUR][1000 genomes]
rs72724476	0.80[EUR][1000 genomes]
rs72724483	0.80[EUR][1000 genomes]
rs72724487	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72724490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724502	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726203	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726204	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72726205	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726216	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726217	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726223	0.82[AMR][1000 genomes]
rs72726225	0.82[AMR][1000 genomes]
rs7461215	0.83[TSI][hapmap]
rs7826256	1.00[CHD][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs7836273	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs929990	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
4	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
6	chr8:131394200-131408800	Weak transcription	NH-A	brain
7	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
8	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
10	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
11	chr8:131399200-131408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:131399200-131408800	Weak transcription	Brain Anterior Caudate	brain
13	chr8:131399400-131409600	Weak transcription	HMEC	breast
14	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:131401200-131408800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:131405200-131410000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:131405600-131408800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:131405600-131408800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:131405600-131409000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:131405600-131410800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:131405600-131412800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:131406400-131408800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:131406800-131417000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:131407000-131410200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:131407000-131414600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:131407200-131409400	Enhancers	Ovary	ovary
31	chr8:131407200-131414400	Strong transcription	NHEK	skin
32	chr8:131407200-131414800	Strong transcription	A549	lung
33	chr8:131407400-131409600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:131407400-131413600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:131407600-131408800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:131407600-131409400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:131407600-131410000	Enhancers	HSMMtube	muscle
39	chr8:131407600-131410200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:131407800-131408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:131407800-131409000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:131407800-131409000	Weak transcription	Left Ventricle	heart
43	chr8:131407800-131409600	Enhancers	NHDF-Ad	bronchial
44	chr8:131407800-131409800	Enhancers	Fetal Muscle Leg	muscle
45	chr8:131407800-131410200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:131407800-131416800	Weak transcription	HepG2	liver
47	chr8:131407800-131417000	Weak transcription	Lung	lung
48	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
49	chr8:131408000-131408800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:131408000-131408800	Weak transcription	Fetal Stomach	stomach

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