Variant report

Variant	rs11781130
Chromosome Location	chr8:121473656-121473657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121456680..121458878-chr8:121471899..121475755,3	MCF-7	breast:
2	chr8:121470546..121472244-chr8:121472632..121474398,2	MCF-7	breast:
3	chr8:121469813..121472120-chr8:121473319..121475647,2	K562	blood:

Variant related genes	Relation type
ENSG00000172167	Chromatin interaction
ENSG00000172172	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11776121	0.84[ASN][1000 genomes]
rs11778778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781698	0.99[ASN][1000 genomes]
rs11786027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11989221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994578	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675851	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678944	0.94[ASN][1000 genomes]
rs12680935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34162236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35511242	0.95[ASN][1000 genomes]
rs35761432	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35895310	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870728	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870730	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55695515	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57481340	0.97[ASN][1000 genomes]
rs59967069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991936	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006059	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006363	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016084	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821312	0.85[ASN][1000 genomes]
rs7825296	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826746	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835199	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7839548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:121458000-121480800	Weak transcription	Lung	lung
3	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
4	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:121458200-121479600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:121458200-121480600	Weak transcription	Left Ventricle	heart
7	chr8:121458200-121483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
9	chr8:121458400-121474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:121458400-121474400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:121458400-121480600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:121458400-121481800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:121458400-121482600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:121458400-121482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:121458400-121484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:121458400-121484600	Weak transcription	Small Intestine	intestine
17	chr8:121458400-121485400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:121458400-121501000	Weak transcription	Ovary	ovary
21	chr8:121458600-121480000	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:121458600-121480800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:121458600-121482800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:121458600-121483400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:121458600-121484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:121458600-121484000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:121458600-121484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:121458600-121484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:121458600-121484400	Weak transcription	Brain Substantia Nigra	brain
30	chr8:121458600-121486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
32	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:121458800-121473800	Weak transcription	Osteobl	bone
35	chr8:121458800-121474200	Weak transcription	Fetal Lung	lung
36	chr8:121458800-121479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:121458800-121480000	Weak transcription	Primary B cells from cord blood	blood
38	chr8:121458800-121483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:121458800-121484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:121458800-121484800	Weak transcription	Adipose Nuclei	Adipose
41	chr8:121458800-121489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:121458800-121491000	Weak transcription	HMEC	breast
43	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
44	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
45	chr8:121458800-121510400	Weak transcription	NHLF	lung
46	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:121459000-121485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:121459000-121485600	Weak transcription	K562	blood
49	chr8:121459000-121486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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