Variant report

Variant	rs12131775
Chromosome Location	chr1:95193950-95193951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10874887	0.86[ASN][1000 genomes]
rs10874889	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11165228	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11165229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12131798	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12134786	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12140396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12752621	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1689170	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17112194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1873876	0.89[EUR][1000 genomes]
rs2055076	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2220764	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28631807	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2997378	0.82[ASN][1000 genomes]
rs2997379	0.82[ASN][1000 genomes]
rs2997380	0.83[ASN][1000 genomes]
rs34730054	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3933012	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4294425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4294426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4311897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4543803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4565724	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847349	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847350	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847351	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4847353	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4847355	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56053685	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56146225	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61339702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61684001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6541362	0.91[ASN][1000 genomes]
rs6541363	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6663681	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6667810	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6667889	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6676162	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
3	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon
4	chr1:95173400-95200600	Weak transcription	Right Atrium	heart
5	chr1:95186200-95211400	Weak transcription	Gastric	stomach
6	chr1:95189800-95200400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:95190600-95194000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:95190600-95195600	Enhancers	HMEC	breast
9	chr1:95190800-95194600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:95190800-95198200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:95191000-95194200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:95191000-95198200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:95191000-95198200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95191600-95194200	Enhancers	HepG2	liver
15	chr1:95191600-95195400	Enhancers	NHLF	lung
16	chr1:95191800-95195600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:95192400-95195000	Enhancers	NHDF-Ad	bronchial
18	chr1:95192600-95194000	Enhancers	Ovary	ovary
19	chr1:95192600-95194200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:95192600-95194200	Enhancers	Placenta	Placenta
21	chr1:95192600-95194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:95192600-95194800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:95192600-95194800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:95192600-95194800	Enhancers	Osteobl	bone
25	chr1:95192600-95195400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:95192600-95195400	Enhancers	NH-A	brain
27	chr1:95192800-95194200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:95192800-95194200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:95192800-95194200	Enhancers	Esophagus	oesophagus
30	chr1:95192800-95194200	Enhancers	Fetal Muscle Trunk	muscle
31	chr1:95192800-95194200	Enhancers	Lung	lung
32	chr1:95192800-95194400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:95192800-95195400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:95192800-95195600	Enhancers	HSMM	muscle
35	chr1:95193000-95194000	Enhancers	Fetal Kidney	kidney
36	chr1:95193000-95194000	Enhancers	Fetal Lung	lung
37	chr1:95193000-95194000	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:95193000-95194200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:95193000-95194200	Enhancers	Fetal Stomach	stomach
40	chr1:95193000-95194200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:95193000-95195000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:95193000-95195000	Enhancers	HUVEC	blood vessel
43	chr1:95193000-95195200	Enhancers	Fetal Muscle Leg	muscle
44	chr1:95193000-95195400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:95193000-95195400	Enhancers	HSMMtube	muscle
46	chr1:95193200-95194800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:95193200-95195200	Weak transcription	Small Intestine	intestine
48	chr1:95193200-95196200	Enhancers	NHEK	skin
49	chr1:95193200-95198200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:95193200-95200600	Weak transcription	Stomach Mucosa	stomach

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