Variant report

Variant	rs271917
Chromosome Location	chr5:95673700-95673701
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95673574..95676406-chr5:95737838..95739582,2	K562	blood:
2	chr5:95194289..95194985-chr5:95673265..95673800,2	MCF-7	breast:
3	chr5:95114828..95117971-chr5:95673070..95677083,3	K562	blood:

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10066966	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10073073	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10476669	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10866766	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs11135449	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs11135451	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11742368	0.88[EUR][1000 genomes]
rs11742915	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs12652939	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12652970	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12653663	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12659174	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13173638	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13190432	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1423673	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498928	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs1695218	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs271918	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs271940	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2910933	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936431	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936433	0.85[ASN][1000 genomes]
rs3922469	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4077817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4267884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4492136	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4559022	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4569897	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4869281	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56699153	0.85[ASN][1000 genomes]
rs59090200	0.88[EUR][1000 genomes]
rs61618257	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6864235	1.00[YRI][hapmap]
rs6877002	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6878441	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6879773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6880865	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6883290	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6895503	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138348	0.88[EUR][1000 genomes]
rs73138350	0.88[EUR][1000 genomes]
rs73138358	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73138366	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73138380	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7447567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7700756	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7701835	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7707839	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7709380	1.00[YRI][hapmap]
rs7714065	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7725014	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7733849	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95667200-95674200	Weak transcription	Small Intestine	intestine
2	chr5:95667600-95675400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:95669000-95674200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:95669000-95674400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:95669000-95675400	Weak transcription	Aorta	Aorta
6	chr5:95669000-95675400	Weak transcription	Psoas Muscle	Psoas
7	chr5:95669200-95674400	Weak transcription	Left Ventricle	heart
8	chr5:95669400-95675400	Weak transcription	Right Ventricle	heart
9	chr5:95669600-95674400	Weak transcription	Gastric	stomach
10	chr5:95669600-95675400	Weak transcription	Right Atrium	heart
11	chr5:95671000-95675000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:95671000-95676200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:95671200-95675200	Enhancers	HMEC	breast
14	chr5:95671200-95675600	Enhancers	HepG2	liver
15	chr5:95671200-95676200	Enhancers	A549	lung
16	chr5:95671200-95676400	Enhancers	HSMM	muscle
17	chr5:95671400-95674600	Enhancers	Liver	Liver
18	chr5:95671400-95676400	Enhancers	Osteobl	bone
19	chr5:95671400-95676800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:95671600-95674200	Enhancers	HSMMtube	muscle
21	chr5:95671600-95676400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:95671800-95674600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:95672000-95673800	Flanking Active TSS	GM12878-XiMat	blood
24	chr5:95672000-95674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:95672000-95674400	Weak transcription	Pancreas	Pancrea
26	chr5:95672000-95674400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr5:95672200-95674200	Weak transcription	Fetal Intestine Large	intestine
28	chr5:95672200-95674200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:95672200-95674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:95672200-95674600	Weak transcription	Fetal Heart	heart
31	chr5:95672200-95675200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:95672200-95675200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:95672200-95675400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:95672200-95675800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:95672200-95676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:95672200-95687400	Enhancers	Hela-S3	cervix
37	chr5:95672400-95675800	Weak transcription	NHEK	skin
38	chr5:95672600-95674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:95672600-95674000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:95672600-95674200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:95672600-95674200	Weak transcription	Stomach Mucosa	stomach
42	chr5:95672600-95674400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:95672600-95674600	Weak transcription	Adipose Nuclei	Adipose
44	chr5:95672600-95675400	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:95672600-95675400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:95672600-95675600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:95672600-95675600	Weak transcription	HUVEC	blood vessel
48	chr5:95672600-95675800	Weak transcription	Brain Anterior Caudate	brain
49	chr5:95673000-95675200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:95673000-95675800	Weak transcription	NH-A	brain

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