Variant report

Variant	rs11237280
Chromosome Location	chr11:77456906-77456907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77455765..77458088-chr11:77462685..77464905,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10899399	0.86[EUR][1000 genomes]
rs10899404	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11237263	0.85[EUR][1000 genomes]
rs11237318	0.88[EUR][1000 genomes]
rs11600998	0.95[ASN][1000 genomes]
rs11603438	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11604207	0.93[ASN][1000 genomes]
rs11606549	0.86[EUR][1000 genomes]
rs12285765	0.94[EUR][1000 genomes]
rs12286317	0.85[EUR][1000 genomes]
rs17752006	0.85[EUR][1000 genomes]
rs1783544	0.91[EUR][1000 genomes]
rs2154972	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs24356	0.94[EUR][1000 genomes]
rs2508189	0.96[EUR][1000 genomes]
rs34130561	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4322421	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4344516	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs484363	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945220	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs537811	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56218634	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588217	0.92[EUR][1000 genomes]
rs598071	0.94[EUR][1000 genomes]
rs614495	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs621456	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623173	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623907	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs635195	0.93[EUR][1000 genomes]
rs636971	0.93[EUR][1000 genomes]
rs643388	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648601	0.92[EUR][1000 genomes]
rs648896	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs650171	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs663674	0.87[EUR][1000 genomes]
rs667225	0.92[EUR][1000 genomes]
rs668701	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs670090	0.89[EUR][1000 genomes]
rs684813	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs687037	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs694845	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs695046	0.89[EUR][1000 genomes]
rs7122968	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7123080	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72945592	0.81[EUR][1000 genomes]
rs72945598	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72947625	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72947668	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72949616	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72949618	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950873	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7951033	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs947841	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
rs11237280	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
2	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
3	chr11:77409600-77458800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
5	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:77431600-77482400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:77436200-77458600	Weak transcription	HSMMtube	muscle
8	chr11:77436200-77462600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:77436200-77463000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:77436200-77473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:77436200-77477000	Weak transcription	Colonic Mucosa	Colon
12	chr11:77436600-77473200	Weak transcription	NHDF-Ad	bronchial
13	chr11:77436800-77458600	Weak transcription	NH-A	brain
14	chr11:77442400-77458200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:77442400-77458400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:77442400-77458400	Weak transcription	NHEK	skin
17	chr11:77442400-77458600	Weak transcription	Psoas Muscle	Psoas
18	chr11:77442400-77458600	Weak transcription	HMEC	breast
19	chr11:77442400-77463600	Weak transcription	Brain Anterior Caudate	brain
20	chr11:77442400-77472600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:77442800-77474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
23	chr11:77443000-77465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:77443200-77473600	Weak transcription	Fetal Brain Female	brain
25	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:77443400-77458400	Weak transcription	A549	lung
27	chr11:77443400-77464400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:77443800-77465800	Weak transcription	Brain Germinal Matrix	brain
29	chr11:77445000-77458600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:77445800-77476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:77446000-77465800	Weak transcription	Fetal Kidney	kidney
32	chr11:77446200-77458400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:77446200-77458800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:77446200-77461600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:77446200-77461800	Weak transcription	Gastric	stomach
36	chr11:77446200-77463200	Weak transcription	Aorta	Aorta
37	chr11:77446200-77463200	Weak transcription	Left Ventricle	heart
38	chr11:77446200-77464800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:77446200-77465800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:77446200-77467200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:77446200-77482400	Weak transcription	Spleen	Spleen
42	chr11:77446400-77458600	Weak transcription	NHLF	lung
43	chr11:77446400-77459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:77446400-77463400	Weak transcription	Fetal Intestine Large	intestine
45	chr11:77446400-77463600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:77446400-77463600	Weak transcription	Lung	lung
47	chr11:77446400-77474800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:77447800-77465800	Weak transcription	Adipose Nuclei	Adipose
49	chr11:77448400-77463800	Weak transcription	K562	blood
50	chr11:77448600-77464200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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