Variant report

Variant	rs687615
Chromosome Location	chr11:77567210-77567211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11237265	0.82[EUR][1000 genomes]
rs11820337	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12225188	0.82[EUR][1000 genomes]
rs12418335	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793335	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793340	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186562	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4145700	0.85[EUR][1000 genomes]
rs501153	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs529181	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs567814	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs616354	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs618535	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs634477	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs648842	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs650636	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs665363	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs681411	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111625	0.84[EUR][1000 genomes]
rs7121559	0.82[EUR][1000 genomes]
rs7924567	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7932547	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7941302	0.83[EUR][1000 genomes]
rs7949468	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[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	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77548800-77582800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:77560800-77568400	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:77562600-77568000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr11:77563000-77567600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:77563000-77569000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr11:77563400-77568400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:77563400-77568400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:77563600-77568400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr11:77564000-77568400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr11:77564200-77567400	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr11:77564400-77567400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:77564400-77567800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:77564400-77568000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr11:77564400-77568400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:77564400-77568400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:77564600-77567600	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr11:77565200-77567600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr11:77565200-77568400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr11:77565400-77567400	ZNF genes & repeats	Placenta	Placenta
20	chr11:77565400-77567400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr11:77565400-77567600	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr11:77565400-77567600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr11:77565400-77567600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:77565400-77567800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr11:77565400-77567800	ZNF genes & repeats	Fetal Brain Female	brain
26	chr11:77565400-77568000	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:77565400-77568200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:77565400-77568200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr11:77565400-77568200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:77565400-77568600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:77565400-77569200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:77565600-77567800	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr11:77565600-77568400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr11:77566000-77568400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:77566000-77592600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:77566200-77567400	Weak transcription	HSMMtube	muscle
37	chr11:77566200-77568200	Strong transcription	Liver	Liver
38	chr11:77566200-77568800	Weak transcription	Psoas Muscle	Psoas
39	chr11:77566200-77569200	Strong transcription	Left Ventricle	heart
40	chr11:77566200-77569400	Strong transcription	Ovary	ovary
41	chr11:77566200-77571200	Weak transcription	Right Ventricle	heart
42	chr11:77566200-77577000	Weak transcription	Osteobl	bone
43	chr11:77566200-77579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:77566200-77580000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:77566200-77580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:77566200-77580600	Weak transcription	HSMM	muscle
47	chr11:77566200-77582000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:77566200-77582600	Weak transcription	Colonic Mucosa	Colon
49	chr11:77566200-77583200	Weak transcription	Pancreas	Pancrea
50	chr11:77566200-77589000	Weak transcription	NHLF	lung

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