Variant report

Variant	rs61882750
Chromosome Location	chr11:46584227-46584228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46583747..46586201-chr11:46614784..46617261,2	K562	blood:

Variant related genes	Relation type
ENSG00000110497	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10160701	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838602	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038897	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038900	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11038906	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038914	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038919	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038927	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11819869	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272795	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12283172	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12292425	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12295266	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12573978	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574250	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574668	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12575519	0.97[EUR][1000 genomes]
rs12576115	0.93[EUR][1000 genomes]
rs12576317	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576359	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577142	0.94[EUR][1000 genomes]
rs12578042	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472001	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1489192	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938506	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17197116	0.97[ASN][1000 genomes]
rs2046768	0.97[EUR][1000 genomes]
rs2067482	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2171667	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2171668	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279465	0.97[EUR][1000 genomes]
rs2291487	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2864072	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2864076	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2902858	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406563	0.95[EUR][1000 genomes]
rs35324223	0.85[EUR][1000 genomes]
rs35623865	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3740974	0.97[EUR][1000 genomes]
rs3740977	0.96[EUR][1000 genomes]
rs3802888	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307676	0.88[EUR][1000 genomes]
rs4423142	0.80[EUR][1000 genomes]
rs55657382	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55661562	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55750336	0.97[ASN][1000 genomes]
rs55896955	0.81[EUR][1000 genomes]
rs57535407	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58147945	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59319338	0.94[EUR][1000 genomes]
rs60722866	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60932698	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882674	0.81[EUR][1000 genomes]
rs61882678	0.89[EUR][1000 genomes]
rs61882682	0.95[EUR][1000 genomes]
rs61882683	0.91[EUR][1000 genomes]
rs61882691	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882701	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882702	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61882706	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61882709	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882710	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882711	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882712	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882720	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882743	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882746	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882748	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882756	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882757	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882758	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884262	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884264	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884271	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884273	0.88[EUR][1000 genomes]
rs61884274	0.88[EUR][1000 genomes]
rs61884292	0.81[EUR][1000 genomes]
rs6485682	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485685	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7108770	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7109698	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7112229	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7122039	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7125907	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126316	0.86[EUR][1000 genomes]
rs7126343	0.88[EUR][1000 genomes]
rs7127529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128092	0.87[EUR][1000 genomes]
rs7130141	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73449983	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7481312	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7484002	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs756343	0.97[ASN][1000 genomes]
rs7924401	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7930103	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7932866	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7936413	0.97[EUR][1000 genomes]
rs7946705	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7951579	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951870	0.98[EUR][1000 genomes]
rs876701	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:46578000-46606200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:46578200-46591400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:46579600-46586400	Weak transcription	Esophagus	oesophagus
6	chr11:46579600-46596600	Weak transcription	Lung	lung
7	chr11:46579800-46596000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:46579800-46606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:46582200-46593600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:46582400-46584800	Enhancers	HepG2	liver
11	chr11:46582400-46586600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:46582400-46589000	Weak transcription	Fetal Intestine Large	intestine
13	chr11:46582400-46589400	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:46582600-46584400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:46582600-46585000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:46582600-46585800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:46582600-46585800	Weak transcription	Fetal Kidney	kidney
18	chr11:46582600-46586600	Weak transcription	Ovary	ovary
19	chr11:46582600-46587000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:46582600-46591200	Weak transcription	Aorta	Aorta
21	chr11:46582600-46592000	Weak transcription	Brain Angular Gyrus	brain
22	chr11:46582800-46587000	Weak transcription	Left Ventricle	heart
23	chr11:46583000-46585000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:46583000-46593000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:46583000-46609600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:46583000-46613000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:46583200-46584600	Weak transcription	Psoas Muscle	Psoas
28	chr11:46583200-46585800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:46583200-46586400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:46583200-46587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:46583200-46587200	Weak transcription	Brain Anterior Caudate	brain
32	chr11:46583200-46589000	Weak transcription	Fetal Stomach	stomach
33	chr11:46583200-46603800	Weak transcription	Right Atrium	heart
34	chr11:46583200-46606200	Weak transcription	K562	blood
35	chr11:46583200-46611800	Weak transcription	Thymus	Thymus
36	chr11:46583200-46612200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:46583200-46613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:46583400-46585800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:46583400-46585800	Weak transcription	HUVEC	blood vessel
40	chr11:46583400-46585800	Weak transcription	Osteobl	bone
41	chr11:46583400-46586000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:46583400-46586000	Weak transcription	NH-A	brain
43	chr11:46583400-46586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:46583400-46586600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:46583400-46587000	Weak transcription	Stomach Mucosa	stomach
46	chr11:46583400-46596200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:46583400-46597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:46583400-46608400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:46583600-46585000	Enhancers	Dnd41	blood
50	chr11:46583600-46585800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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