Variant report

Variant	rs614495
Chromosome Location	chr11:77536886-77536887
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77334512..77336360-chr11:77534997..77537223,2	K562	blood:
2	chr11:77491035..77492595-chr11:77536024..77537709,2	K562	blood:

Variant related genes	Relation type
ENSG00000074201	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10899399	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11237263	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11237280	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11237318	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11600140	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11604207	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11606549	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607032	0.81[ASN][1000 genomes]
rs12285765	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286317	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17752006	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1783544	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs24356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508189	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34130561	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4322421	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4344516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4945220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56218634	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs588217	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598071	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621456	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs623173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs623907	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs628668	0.90[JPT][hapmap]
rs635195	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636971	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs648601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648896	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs650171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs663674	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs667225	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs670090	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684813	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs687037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs694845	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122968	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7123080	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72945592	0.91[ASN][1000 genomes]
rs72947625	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72947668	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72949616	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72949618	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7950873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs7951033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs614495	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77533000-77537600	Weak transcription	Thymus	Thymus
2	chr11:77533000-77544400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:77533000-77553800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:77533000-77554000	Weak transcription	Brain Substantia Nigra	brain
5	chr11:77533000-77554200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:77533400-77552200	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:77533400-77552200	Weak transcription	Left Ventricle	heart
8	chr11:77533400-77553800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:77533400-77554000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:77533400-77565600	Weak transcription	Gastric	stomach
11	chr11:77533400-77565600	Weak transcription	Pancreas	Pancrea
12	chr11:77533600-77538200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:77533600-77544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:77533600-77552200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:77533600-77553000	Weak transcription	HUVEC	blood vessel
16	chr11:77534000-77543000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:77534200-77537800	Weak transcription	Fetal Stomach	stomach
18	chr11:77534600-77555400	Weak transcription	Lung	lung
19	chr11:77534800-77543800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:77534800-77544400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:77535000-77544200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:77535200-77548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:77535200-77551800	Weak transcription	Ovary	ovary
24	chr11:77535200-77552800	Weak transcription	Aorta	Aorta
25	chr11:77535200-77553800	Weak transcription	NHDF-Ad	bronchial
26	chr11:77535200-77554200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:77535200-77554400	Weak transcription	HSMM	muscle
28	chr11:77535400-77538400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:77535400-77538800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:77535400-77544400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:77535400-77544400	Weak transcription	Fetal Lung	lung
32	chr11:77535400-77552000	Weak transcription	Fetal Intestine Large	intestine
33	chr11:77535400-77552200	Weak transcription	Liver	Liver
34	chr11:77535400-77553400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:77535400-77553400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:77535400-77554200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:77535400-77555000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:77535400-77565600	Weak transcription	HepG2	liver
39	chr11:77535600-77538400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:77535800-77537600	Weak transcription	Fetal Intestine Small	intestine
41	chr11:77535800-77552000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:77535800-77552200	Weak transcription	Adipose Nuclei	Adipose
43	chr11:77535800-77552200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:77536000-77544400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:77536600-77552200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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