Variant report

Variant	rs4133526
Chromosome Location	chr11:74560023-74560024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74559768..74561678-chr11:74563525..74565103,2	K562	blood:
2	chr11:74547278..74549879-chr11:74556905..74560343,3	K562	blood:
3	chr11:74547278..74549231-chr11:74557755..74560343,2	K562	blood:

Variant related genes	Relation type
ENSG00000166439	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10160407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501418	1.00[EUR][1000 genomes]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	1.00[ASN][1000 genomes]
rs11236239	0.83[AMR][1000 genomes]
rs11236247	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236259	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236293	0.83[AMR][1000 genomes]
rs11501909	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11501910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098929	1.00[AMR][1000 genomes]
rs12270712	1.00[ASN][1000 genomes]
rs12271211	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12271960	0.83[AMR][1000 genomes]
rs12272764	1.00[ASN][1000 genomes]
rs12273852	0.83[AMR][1000 genomes]
rs12274227	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275050	0.83[AMR][1000 genomes]
rs12275056	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283768	1.00[ASN][1000 genomes]
rs12284331	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12286425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12286482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287287	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290339	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12292428	0.83[AMR][1000 genomes]
rs12295546	0.83[AMR][1000 genomes]
rs13343191	1.00[AMR][1000 genomes]
rs1439677	0.83[AMR][1000 genomes]
rs28637653	0.85[AMR][1000 genomes]
rs56306513	1.00[ASN][1000 genomes]
rs57031821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481855	1.00[ASN][1000 genomes]
rs6592593	1.00[ASN][1000 genomes]
rs7109667	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111955	0.83[AMR][1000 genomes]
rs7125078	1.00[ASN][1000 genomes]
rs7128783	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991236	1.00[ASN][1000 genomes]
rs72991239	1.00[ASN][1000 genomes]
rs72991244	1.00[ASN][1000 genomes]
rs73490680	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73490691	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492794	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73496929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498736	0.83[AMR][1000 genomes]
rs73498737	0.83[AMR][1000 genomes]
rs7928010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947106	1.00[ASN][1000 genomes]
rs9943586	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74528000-74576400	Weak transcription	Stomach Mucosa	stomach
2	chr11:74543800-74565800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:74544200-74570800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr11:74545600-74564600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:74545600-74568400	Strong transcription	Fetal Intestine Large	intestine
6	chr11:74545800-74560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:74545800-74565000	Strong transcription	Fetal Muscle Leg	muscle
8	chr11:74546000-74566800	Strong transcription	Fetal Stomach	stomach
9	chr11:74547600-74571400	Weak transcription	Fetal Brain Male	brain
10	chr11:74547800-74562800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:74548000-74560600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:74548800-74560200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:74549400-74567600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:74549800-74560400	Weak transcription	Right Atrium	heart
15	chr11:74550600-74564600	Strong transcription	Fetal Intestine Small	intestine
16	chr11:74551000-74568400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:74551600-74560200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:74552600-74560600	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:74552600-74565400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:74552800-74576800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr11:74553800-74569400	Weak transcription	Fetal Heart	heart
22	chr11:74554200-74560400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:74554200-74567600	Weak transcription	Psoas Muscle	Psoas
24	chr11:74554600-74560800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:74554800-74560200	Weak transcription	HSMM	muscle
26	chr11:74554800-74571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:74555800-74560800	Weak transcription	HSMMtube	muscle
28	chr11:74555800-74569800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:74556200-74560600	Weak transcription	Brain Substantia Nigra	brain
30	chr11:74556200-74560800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:74556200-74561600	Weak transcription	GM12878-XiMat	blood
32	chr11:74556800-74560200	Weak transcription	NH-A	brain
33	chr11:74556800-74562000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:74556800-74562400	Weak transcription	Hela-S3	cervix
35	chr11:74557200-74560200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:74557200-74560600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:74557200-74561800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:74557200-74562800	Weak transcription	K562	blood
39	chr11:74557400-74560200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:74557800-74560400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:74558200-74560200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:74558200-74563400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr11:74558200-74564400	Strong transcription	Thymus	Thymus
44	chr11:74558200-74564600	Strong transcription	Dnd41	blood
45	chr11:74558200-74565200	Strong transcription	Colonic Mucosa	Colon
46	chr11:74558400-74564000	Strong transcription	Fetal Brain Female	brain
47	chr11:74558400-74564200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:74558400-74564600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr11:74558600-74560200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:74558600-74560400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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