Variant report

Variant	rs11777909
Chromosome Location	chr8:131255226-131255227
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	chr8:131249163..131251743-chr8:131252755..131255422,3	K562	blood:
2	chr8:131251770..131253963-chr8:131254539..131258197,4	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs11774346	1.00[AMR][1000 genomes]
rs11774686	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11775172	1.00[AMR][1000 genomes]
rs11775309	0.93[AMR][1000 genomes]
rs11775609	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11776262	0.88[AMR][1000 genomes]
rs11776732	0.87[AMR][1000 genomes]
rs11776768	0.87[AMR][1000 genomes]
rs11777289	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778072	1.00[AMR][1000 genomes]
rs11778504	1.00[AMR][1000 genomes]
rs11778593	1.00[AMR][1000 genomes]
rs11778712	1.00[AMR][1000 genomes]
rs11778881	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781211	1.00[AMR][1000 genomes]
rs11781912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11783764	1.00[AMR][1000 genomes]
rs11784477	1.00[AMR][1000 genomes]
rs11784842	1.00[AMR][1000 genomes]
rs11784988	0.88[AMR][1000 genomes]
rs11785125	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11785172	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11785286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11785806	0.88[AMR][1000 genomes]
rs11786205	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56162445	0.93[AMR][1000 genomes]
rs56350423	0.87[AMR][1000 genomes]
rs57315235	0.88[AMR][1000 genomes]
rs6981861	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6982030	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6991549	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6992270	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7006802	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722360	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72722361	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722363	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72722368	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722370	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722372	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722374	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722375	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722379	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722380	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722381	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722386	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72722388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724412	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724414	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724419	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724421	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724423	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724426	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724437	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724446	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724447	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724449	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724450	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724451	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724452	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724453	1.00[AMR][1000 genomes]
rs72724454	1.00[AMR][1000 genomes]
rs72724455	1.00[AMR][1000 genomes]
rs72724460	1.00[AMR][1000 genomes]
rs72724461	1.00[AMR][1000 genomes]
rs72724473	1.00[AMR][1000 genomes]
rs72724487	1.00[AMR][1000 genomes]
rs72724490	0.88[AMR][1000 genomes]
rs72724502	1.00[AMR][1000 genomes]
rs72726203	1.00[AMR][1000 genomes]
rs72726204	0.93[AMR][1000 genomes]
rs72726205	0.93[AMR][1000 genomes]
rs72726216	0.93[AMR][1000 genomes]
rs72726217	0.93[AMR][1000 genomes]
rs72726223	0.93[AMR][1000 genomes]
rs72726225	0.93[AMR][1000 genomes]
rs72726226	0.87[AMR][1000 genomes]
rs72726227	0.87[AMR][1000 genomes]
rs72726229	0.87[AMR][1000 genomes]
rs72726231	0.87[AMR][1000 genomes]
rs7826256	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7836273	1.00[AMR][1000 genomes]
rs929990	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
6	chr8:131232200-131257000	Weak transcription	Lung	lung
7	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
8	chr8:131234600-131255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:131234800-131255600	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
11	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:131240800-131255800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
16	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:131246200-131257200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:131246400-131257000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:131247000-131257000	Weak transcription	Liver	Liver
20	chr8:131247000-131258200	Weak transcription	Pancreas	Pancrea
21	chr8:131247200-131255600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:131248400-131256400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:131248400-131256400	Weak transcription	Psoas Muscle	Psoas
24	chr8:131248400-131257000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:131248400-131257000	Weak transcription	Dnd41	blood
26	chr8:131248400-131258600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:131248600-131256600	Weak transcription	Fetal Thymus	thymus
28	chr8:131248800-131256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:131249000-131259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:131249200-131256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:131250600-131256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:131250600-131256400	Weak transcription	HSMMtube	muscle
34	chr8:131250600-131256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:131250600-131256800	Weak transcription	NHEK	skin
36	chr8:131250600-131259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:131250800-131256400	Weak transcription	Ovary	ovary
38	chr8:131250800-131260200	Weak transcription	HMEC	breast
39	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:131250800-131270600	Weak transcription	NH-A	brain
41	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:131251200-131255800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:131251200-131258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:131251600-131257000	Enhancers	Primary T cells from cord blood	blood
45	chr8:131251600-131257000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr8:131251600-131257000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr8:131251600-131257000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:131251600-131257400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:131251600-131257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:131251800-131260200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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