Variant report

Variant	rs11172163
Chromosome Location	chr12:57718965-57718966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11172139	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11172145	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172152	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172160	0.80[AMR][1000 genomes]
rs11172161	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172166	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172176	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172184	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11172197	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34453452	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34537746	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35032945	0.82[AMR][1000 genomes]
rs35058761	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6581140	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7139302	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7975026	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975634	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 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	chr12:57691000-57736200	Weak transcription	Right Atrium	heart
2	chr12:57693600-57743800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:57694000-57780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:57694200-57734000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:57694400-57732400	Weak transcription	Ovary	ovary
6	chr12:57694400-57735000	Weak transcription	Psoas Muscle	Psoas
7	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:57697000-57726000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:57697000-57735400	Weak transcription	Right Ventricle	heart
10	chr12:57697200-57734000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:57697200-57745000	Weak transcription	Lung	lung
12	chr12:57697400-57721400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:57699800-57762400	Weak transcription	Left Ventricle	heart
14	chr12:57700000-57719800	Weak transcription	Fetal Kidney	kidney
15	chr12:57700000-57720000	Weak transcription	Fetal Intestine Large	intestine
16	chr12:57700000-57733800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:57700000-57736000	Weak transcription	Fetal Brain Male	brain
18	chr12:57700400-57721600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:57703400-57733800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:57703400-57734600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:57703400-57742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:57703600-57719000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:57703800-57720200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:57703800-57723400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:57703800-57725000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:57703800-57726600	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:57704000-57720600	Weak transcription	Placenta	Placenta
28	chr12:57704000-57726400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:57704200-57719000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:57704200-57720000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:57704200-57721200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:57704200-57721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:57704200-57725400	Weak transcription	Thymus	Thymus
34	chr12:57704200-57728200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:57704200-57728800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:57704200-57733600	Weak transcription	HSMM	muscle
37	chr12:57704200-57743200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:57704400-57724800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:57704400-57725800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:57704400-57733800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:57706000-57720200	Weak transcription	Fetal Thymus	thymus
43	chr12:57706000-57724200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:57706400-57732200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:57707000-57720200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:57707000-57721400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:57707200-57719600	Weak transcription	Primary B cells from cord blood	blood
48	chr12:57708000-57724600	Weak transcription	Fetal Stomach	stomach
49	chr12:57709800-57746800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:57712400-57721800	Weak transcription	Fetal Intestine Small	intestine

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