Variant report

Variant	rs11024058
Chromosome Location	chr11:16877497-16877498
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	chr11:16869700..16872673-chr11:16876398..16878604,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11024054	1.00[ASW][hapmap];0.92[GIH][hapmap];0.83[LWK][hapmap];0.82[TSI][hapmap]
rs11024059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024061	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024069	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024071	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12222901	1.00[ASW][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.82[TSI][hapmap]
rs12223233	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12223369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226273	0.86[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17698419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17772101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756868	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4756870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756871	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4757441	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55814202	0.83[AMR][1000 genomes]
rs56005045	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61496580	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72864090	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72864092	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72864100	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11024058	INSC	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16839200-16878800	Weak transcription	Thymus	Thymus
2	chr11:16848400-16878600	Weak transcription	Small Intestine	intestine
3	chr11:16853400-16883800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:16855200-16877600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:16855200-16878800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:16858200-16878800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:16861200-16879800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:16861800-16880600	Weak transcription	HMEC	breast
9	chr11:16863400-16882000	Weak transcription	Stomach Mucosa	stomach
10	chr11:16863800-16884800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:16863800-16892600	Weak transcription	Fetal Kidney	kidney
12	chr11:16864000-16878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:16864200-16882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:16866800-16879000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:16867600-16879200	Strong transcription	Liver	Liver
16	chr11:16867800-16885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:16870400-16878000	Strong transcription	Fetal Intestine Large	intestine
18	chr11:16870800-16879000	Strong transcription	HepG2	liver
19	chr11:16871200-16878000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr11:16871400-16878800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:16871400-16879000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:16871400-16879000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:16872000-16877800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:16872000-16895800	Weak transcription	Aorta	Aorta
25	chr11:16872200-16877600	Weak transcription	Lung	lung
26	chr11:16872200-16882200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:16872200-16884400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:16872600-16889600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:16872800-16883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:16873000-16881200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:16874400-16881400	Strong transcription	Fetal Intestine Small	intestine
32	chr11:16875000-16877600	Strong transcription	Placenta	Placenta
33	chr11:16875000-16877600	Enhancers	Right Atrium	heart
34	chr11:16875000-16877800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:16875000-16878400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:16875000-16878400	Strong transcription	Pancreas	Pancrea
37	chr11:16875000-16879000	Enhancers	Left Ventricle	heart
38	chr11:16875200-16879000	Strong transcription	Gastric	stomach
39	chr11:16875400-16877600	Strong transcription	Ovary	ovary
40	chr11:16875400-16879200	Strong transcription	Esophagus	oesophagus
41	chr11:16875600-16877600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:16875600-16877800	Strong transcription	Fetal Stomach	stomach
43	chr11:16875600-16878200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:16875600-16879200	Enhancers	Fetal Muscle Leg	muscle
45	chr11:16876000-16881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:16876000-16883800	Weak transcription	Fetal Brain Female	brain
47	chr11:16876200-16879000	Enhancers	HSMMtube	muscle
48	chr11:16876200-16888400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:16876400-16877800	Enhancers	Brain Germinal Matrix	brain
50	chr11:16876400-16878600	Enhancers	K562	blood

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