Variant report

Variant	rs4847350
Chromosome Location	chr1:95190365-95190366
allele	C/T
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	0.93[ASN][1000 genomes]
rs10874889	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165228	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165229	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12131775	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12131798	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12134786	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12140396	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12752621	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689170	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17112194	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1873876	0.87[EUR][1000 genomes]
rs2055076	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2220764	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28631807	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2997378	0.89[ASN][1000 genomes]
rs2997379	0.89[ASN][1000 genomes]
rs2997380	0.90[ASN][1000 genomes]
rs34730054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3933012	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4294425	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4294426	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4311897	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4543803	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565724	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847349	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847352	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4847353	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4847355	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56053685	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56146225	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61339702	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61684001	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6541362	0.85[ASN][1000 genomes]
rs6541363	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6663681	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6667810	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6667889	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6676162	0.82[AMR][1000 genomes];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	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:32 , 50 per page) page: 1

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	chr1:95175800-95192600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:95175800-95193000	Weak transcription	Fetal Stomach	stomach
7	chr1:95179600-95193800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:95182600-95191000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95184400-95190800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:95185000-95190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:95186200-95211400	Weak transcription	Gastric	stomach
12	chr1:95187000-95193800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:95187400-95191800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:95188000-95190600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:95188800-95190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:95189000-95190600	Enhancers	Fetal Intestine Large	intestine
17	chr1:95189400-95191800	Strong transcription	Fetal Intestine Small	intestine
18	chr1:95189600-95192800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:95189800-95192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:95189800-95192800	Weak transcription	Lung	lung
21	chr1:95189800-95193800	Weak transcription	Spleen	Spleen
22	chr1:95189800-95200400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:95190000-95191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:95190000-95191000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:95190000-95191000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:95190000-95191000	Weak transcription	NHDF-Ad	bronchial
27	chr1:95190000-95191600	Weak transcription	HepG2	liver
28	chr1:95190000-95193000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:95190000-95193400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:95190000-95193800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:95190000-95193800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:95190200-95190800	Weak transcription	Placenta Amnion	Placenta Amnion

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