Variant report

Variant	rs513157
Chromosome Location	chr11:74473846-74473847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs100087	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10899043	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236243	0.84[ASN][1000 genomes]
rs11236255	0.85[ASN][1000 genomes]
rs1125609	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs113187	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11827626	0.84[ASN][1000 genomes]
rs12223829	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1282668	0.86[EUR][1000 genomes]
rs1282675	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1282677	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1315265	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1315299	0.82[ASN][1000 genomes]
rs1821352	0.84[ASN][1000 genomes]
rs1866562	0.84[ASN][1000 genomes]
rs2436762	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510692	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3132738	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3132908	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs474431	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474445	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs474970	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs476040	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs483271	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs487207	0.84[ASN][1000 genomes]
rs491826	0.81[ASN][1000 genomes]
rs493889	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs496698	0.82[EUR][1000 genomes]
rs498527	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs500827	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs503855	0.84[ASN][1000 genomes]
rs503994	0.82[EUR][1000 genomes]
rs504970	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs507247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs507620	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs512782	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs514534	0.82[EUR][1000 genomes]
rs515429	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs516287	0.85[ASN][1000 genomes]
rs517035	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs517666	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs517939	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs524187	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525802	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527099	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527661	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529186	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs532952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs533220	0.93[ASN][1000 genomes]
rs534595	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs535705	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs535794	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs536823	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs544852	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs544891	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs545202	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs545304	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs548106	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550909	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs556908	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs556916	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs557804	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs558303	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs559211	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs563473	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs564229	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs571250	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571437	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs575064	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs575886	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs576661	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs578477	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs579581	0.85[ASN][1000 genomes]
rs580042	0.98[ASN][1000 genomes]
rs580299	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs580541	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs592045	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59735998	0.81[ASN][1000 genomes]
rs605954	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs633824	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs650130	0.84[ASN][1000 genomes]
rs655488	0.81[ASN][1000 genomes]
rs662062	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs673731	0.83[ASN][1000 genomes]
rs693212	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7121530	0.85[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	esv1840811	chr11:74452658-74488369	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74461200-74479400	Weak transcription	Spleen	Spleen
2	chr11:74461600-74474800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:74461600-74475000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:74461600-74476400	Weak transcription	Thymus	Thymus
5	chr11:74461600-74494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:74462200-74474800	Weak transcription	Fetal Stomach	stomach
7	chr11:74462400-74479000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:74462400-74481200	Weak transcription	Primary T cells from cord blood	blood
9	chr11:74462600-74487800	Weak transcription	K562	blood
10	chr11:74465200-74480600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:74465800-74479000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:74466000-74474800	Weak transcription	Left Ventricle	heart
13	chr11:74466000-74478800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:74466000-74478800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:74466000-74479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:74466400-74474600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:74466800-74480800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:74467000-74480400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:74467000-74494200	Weak transcription	Hela-S3	cervix
20	chr11:74467200-74477400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:74467200-74483200	Weak transcription	Fetal Heart	heart
22	chr11:74467200-74490800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:74467200-74493200	Weak transcription	Pancreas	Pancrea
24	chr11:74467400-74480000	Weak transcription	A549	lung
25	chr11:74467400-74480400	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:74467400-74480800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:74467400-74486000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:74467800-74475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:74467800-74480000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:74467800-74481200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:74467800-74489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:74468000-74478400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:74468000-74481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:74468000-74484200	Weak transcription	NHDF-Ad	bronchial
35	chr11:74468000-74494000	Weak transcription	Dnd41	blood
36	chr11:74468000-74500800	Weak transcription	HepG2	liver
37	chr11:74470400-74494000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:74470600-74500800	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:74473600-74474200	ZNF genes & repeats	GM12878-XiMat	blood
40	chr11:74473600-74474400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:74473600-74474600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:74473600-74474600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:74473800-74474000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:74473800-74474000	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr11:74473800-74474200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr11:74473800-74474200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:74473800-74474200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:74473800-74474400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:74473800-74475200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:74473800-74475400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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