Variant report

Variant	rs12131298
Chromosome Location	chr1:94914970-94914971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157506	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1034363	0.86[EUR][1000 genomes]
rs1041282	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11165149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11576665	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11581292	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11582033	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1158254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11585880	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12120731	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127355	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12130330	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12143221	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12143512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17410399	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1983859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2050648	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147794	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296382	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2794470	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4148042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4148050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4148056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148060	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4536006	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847303	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55801886	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56353982	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61772847	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61772851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61772854	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698950	0.80[EUR][1000 genomes]
rs7555399	0.87[EUR][1000 genomes]
rs841692	0.85[EUR][1000 genomes]
rs841695	0.85[EUR][1000 genomes]
rs927728	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966176	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94885200-94915000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:94906200-94915200	Weak transcription	Pancreas	Pancrea
3	chr1:94908600-94918800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:94910600-94928600	Weak transcription	A549	lung
5	chr1:94911800-94915000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:94912400-94915000	Weak transcription	Colonic Mucosa	Colon
7	chr1:94912400-94915400	Weak transcription	HUVEC	blood vessel
8	chr1:94913200-94915000	Weak transcription	NHDF-Ad	bronchial
9	chr1:94913600-94916000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:94913800-94974200	Weak transcription	Psoas Muscle	Psoas
11	chr1:94914000-94915400	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:94914200-94915200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:94914200-94915800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:94914200-94916000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
15	chr1:94914200-94917600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:94914200-94917800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr1:94914200-94917800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr1:94914200-94917800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr1:94914200-94918000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr1:94914200-94918000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr1:94914200-94918800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:94914200-94951800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:94914400-94915000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:94914400-94915000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:94914400-94915400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:94914400-94916000	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr1:94914400-94916400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr1:94914400-94916400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr1:94914400-94916400	ZNF genes & repeats	Thymus	Thymus
30	chr1:94914400-94916600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:94914400-94917600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr1:94914400-94918000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr1:94914400-94918000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr1:94914400-94918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr1:94914400-94918200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr1:94914400-94918200	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr1:94914400-94918800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:94914400-94918800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr1:94914400-94918800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:94914600-94915000	Weak transcription	Fetal Heart	heart
41	chr1:94914600-94915200	Strong transcription	Left Ventricle	heart
42	chr1:94914600-94915400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr1:94914600-94915600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:94914600-94915600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
45	chr1:94914600-94915600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:94914600-94915600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:94914600-94915800	ZNF genes & repeats	Liver	Liver
48	chr1:94914600-94916000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr1:94914600-94916000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr1:94914600-94916000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood

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