Variant report

Variant	rs56053685
Chromosome Location	chr1:95195936-95195937
allele	C/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	0.84[ASN][1000 genomes]
rs10874889	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11165228	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11165229	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131775	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12131798	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12134786	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12140396	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752621	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1689170	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112194	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873876	0.88[EUR][1000 genomes]
rs2055076	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2220764	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28631807	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2997378	0.81[ASN][1000 genomes]
rs2997379	0.81[ASN][1000 genomes]
rs2997380	0.82[ASN][1000 genomes]
rs34730054	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3933012	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4294425	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294426	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4311897	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4543803	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4565724	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847349	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4847350	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4847351	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4847352	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847353	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4847355	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56146225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61339702	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61684001	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541362	0.93[ASN][1000 genomes]
rs6541363	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6663681	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6667810	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6667889	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6676162	0.83[AMR][1000 genomes];0.88[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
2	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon
3	chr1:95173400-95200600	Weak transcription	Right Atrium	heart
4	chr1:95186200-95211400	Weak transcription	Gastric	stomach
5	chr1:95189800-95200400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:95190800-95198200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:95191000-95198200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:95191000-95198200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95193200-95196200	Enhancers	NHEK	skin
10	chr1:95193200-95198200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:95193200-95200600	Weak transcription	Stomach Mucosa	stomach
12	chr1:95193200-95202200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:95194000-95200400	Weak transcription	Ovary	ovary
14	chr1:95194000-95202800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:95194200-95196200	Weak transcription	Placenta	Placenta
16	chr1:95194200-95196200	Weak transcription	Fetal Stomach	stomach
17	chr1:95194200-95199200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:95194200-95199400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:95194200-95200400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:95194200-95200600	Weak transcription	Lung	lung
21	chr1:95194200-95200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:95194200-95200800	Weak transcription	Spleen	Spleen
23	chr1:95194400-95200600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:95195000-95197200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:95195200-95196200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:95195200-95200400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:95195400-95196400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:95195400-95196400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:95195400-95196400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:95195400-95197400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:95195400-95197400	Weak transcription	HSMMtube	muscle
32	chr1:95195400-95197400	Weak transcription	NH-A	brain
33	chr1:95195400-95197400	Weak transcription	NHLF	lung
34	chr1:95195400-95200400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:95195400-95200400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:95195400-95200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:95195400-95200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:95195400-95200400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:95195400-95200400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:95195400-95200400	Weak transcription	HUVEC	blood vessel
41	chr1:95195400-95200600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:95195400-95200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:95195400-95200600	Weak transcription	Adipose Nuclei	Adipose
44	chr1:95195600-95196000	Weak transcription	HMEC	breast
45	chr1:95195600-95196600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:95195600-95197200	Weak transcription	HSMM	muscle
47	chr1:95195600-95197400	Weak transcription	NHDF-Ad	bronchial
48	chr1:95195600-95200600	Weak transcription	Hela-S3	cervix
49	chr1:95195800-95196000	Weak transcription	Fetal Intestine Small	intestine
50	chr1:95195800-95199400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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