Variant report

Variant	rs1315299
Chromosome Location	chr11:74598976-74598977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10899043	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11236255	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1125609	0.92[ASN][1000 genomes]
rs113187	0.90[ASN][1000 genomes]
rs11827626	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12223829	0.93[ASN][1000 genomes]
rs1282668	0.93[ASN][1000 genomes]
rs1282675	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1282677	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1315265	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1821352	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866562	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2436762	0.81[ASN][1000 genomes]
rs2510692	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3132738	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3132908	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs474431	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs474445	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs474970	0.81[ASN][1000 genomes]
rs476040	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs483271	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs487207	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs487226	0.87[ASN][1000 genomes]
rs491826	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493889	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944962	0.83[ASN][1000 genomes]
rs496698	0.90[ASN][1000 genomes]
rs498527	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs500827	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs503855	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs503994	0.91[ASN][1000 genomes]
rs504970	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs507247	0.81[ASN][1000 genomes]
rs507305	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs507620	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs512782	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs513157	0.82[ASN][1000 genomes]
rs514534	0.90[ASN][1000 genomes]
rs516287	0.91[ASN][1000 genomes]
rs517035	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs517666	0.94[ASN][1000 genomes]
rs517939	0.82[ASN][1000 genomes]
rs524187	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs525802	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs527099	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs527661	0.82[ASN][1000 genomes]
rs528800	0.92[ASN][1000 genomes]
rs529186	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs533220	0.83[EUR][1000 genomes]
rs534595	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs535705	0.95[ASN][1000 genomes]
rs536823	0.90[ASN][1000 genomes]
rs544852	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544891	0.92[ASN][1000 genomes]
rs545202	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs545304	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548106	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs550909	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs556908	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs556916	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs557804	0.82[ASN][1000 genomes]
rs558303	0.82[ASN][1000 genomes]
rs559211	0.92[ASN][1000 genomes]
rs562581	0.83[ASN][1000 genomes]
rs563473	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs564229	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs571250	0.81[ASN][1000 genomes]
rs571437	0.95[ASN][1000 genomes]
rs575064	0.81[ASN][1000 genomes]
rs575886	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576661	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs578477	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs579581	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs580042	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs580299	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs580541	0.90[ASN][1000 genomes]
rs592045	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs605954	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633824	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs650130	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs655488	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs662062	0.96[ASN][1000 genomes]
rs670246	0.87[ASN][1000 genomes]
rs673731	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs693212	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121530	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74586400-74604800	Weak transcription	Fetal Heart	heart
2	chr11:74587000-74600400	Weak transcription	HUVEC	blood vessel
3	chr11:74587400-74611800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:74587400-74629600	Weak transcription	Gastric	stomach
5	chr11:74588400-74601800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:74588400-74605400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:74588400-74606200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:74588400-74630600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:74588400-74636000	Weak transcription	NHLF	lung
10	chr11:74591800-74606000	Weak transcription	Right Ventricle	heart
11	chr11:74594400-74599200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr11:74594400-74599200	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr11:74594400-74599400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:74594400-74599400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:74594400-74600000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr11:74594400-74600000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:74594600-74599200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:74594600-74599200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr11:74594600-74599200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:74594600-74599600	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
22	chr11:74595600-74606600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:74595800-74605200	Weak transcription	Brain Anterior Caudate	brain
24	chr11:74595800-74611800	Weak transcription	Brain Angular Gyrus	brain
25	chr11:74596000-74599200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
26	chr11:74596200-74599800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:74596200-74605000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:74596200-74606200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:74596400-74606200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:74596400-74612000	Weak transcription	HSMM	muscle
31	chr11:74596800-74604800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:74596800-74619000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:74597200-74599200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:74597200-74599400	ZNF genes & repeats	Liver	Liver
35	chr11:74597200-74599800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr11:74597600-74599400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:74597600-74599600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:74597600-74606200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:74597800-74599000	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr11:74597800-74599000	ZNF genes & repeats	Thymus	Thymus
41	chr11:74597800-74599200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:74597800-74599400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:74598000-74599200	Strong transcription	Colonic Mucosa	Colon
44	chr11:74598000-74599400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:74598000-74600800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:74598000-74603000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:74598000-74606600	Weak transcription	Psoas Muscle	Psoas
48	chr11:74598000-74606800	Weak transcription	Left Ventricle	heart
49	chr11:74598200-74604600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:74598200-74604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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