Variant report

Variant	rs41531051
Chromosome Location	chr11:74530032-74530033
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74525648..74527452-chr11:74528928..74531947,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11236269	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11605604	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12363224	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1282460	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1282461	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1282689	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1282690	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1282692	0.88[EUR][1000 genomes]
rs1282695	0.80[AFR][1000 genomes]
rs1292895	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1297319	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1303525	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1315297	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1583342	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028343	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2028344	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2033532	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs471462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473080	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs473256	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs480840	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs483615	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs495246	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs497772	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs502225	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs505688	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs508319	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs511021	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs511890	0.90[EUR][1000 genomes]
rs512780	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs513137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519741	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs527529	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs529249	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs529488	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs537054	0.88[EUR][1000 genomes]
rs538502	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs543244	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs546643	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs550491	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs550869	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs550980	0.83[EUR][1000 genomes]
rs557483	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs561589	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs562265	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs565767	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567956	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs568558	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs568758	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs571446	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs573925	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs577063	0.84[EUR][1000 genomes]
rs577102	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs580142	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs590105	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs599722	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs603062	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs614832	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs616085	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs624786	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs625268	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs629573	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs641584	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs643807	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs646287	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs688665	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9444	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74494800-74530600	Weak transcription	NH-A	brain
2	chr11:74496200-74533000	Weak transcription	Fetal Brain Male	brain
3	chr11:74502800-74545600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:74503000-74530200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:74503000-74530600	Weak transcription	HSMMtube	muscle
6	chr11:74503000-74531600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:74503000-74533000	Weak transcription	Right Ventricle	heart
8	chr11:74503200-74533000	Weak transcription	Gastric	stomach
9	chr11:74503200-74537800	Weak transcription	Pancreas	Pancrea
10	chr11:74504400-74531600	Weak transcription	HMEC	breast
11	chr11:74504400-74534600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:74507000-74530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:74509200-74531000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:74509600-74533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:74509800-74534600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:74515400-74533000	Weak transcription	Esophagus	oesophagus
17	chr11:74518400-74530600	Weak transcription	Psoas Muscle	Psoas
18	chr11:74518600-74530200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:74518600-74531600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:74519800-74531600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:74519800-74534200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:74520000-74533000	Weak transcription	Small Intestine	intestine
23	chr11:74520400-74533200	Strong transcription	Dnd41	blood
24	chr11:74520600-74534400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:74520600-74534800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:74520800-74537800	Weak transcription	Colonic Mucosa	Colon
27	chr11:74521000-74531400	Weak transcription	Left Ventricle	heart
28	chr11:74523200-74530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:74524800-74531000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:74524800-74531600	Weak transcription	GM12878-XiMat	blood
31	chr11:74524800-74535800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:74525400-74534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:74526200-74531000	Weak transcription	Hela-S3	cervix
34	chr11:74526400-74534400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:74526600-74534000	Strong transcription	Primary B cells from cord blood	blood
36	chr11:74527000-74530400	Genic enhancers	K562	blood
37	chr11:74527000-74533000	Weak transcription	Spleen	Spleen
38	chr11:74527200-74534800	Strong transcription	Fetal Intestine Large	intestine
39	chr11:74527400-74533000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr11:74527600-74531800	Strong transcription	Fetal Lung	lung
41	chr11:74527600-74532000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:74527600-74532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:74527600-74532200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:74527800-74530600	Strong transcription	NHEK	skin
45	chr11:74527800-74532400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:74527800-74534000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:74527800-74534400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:74527800-74534600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:74527800-74534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:74528000-74530400	Weak transcription	Brain Cingulate Gyrus	brain

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