Variant report

Variant	rs2745451
Chromosome Location	chr6:4066303-4066304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4061684..4064078-chr6:4064643..4066598,2	MCF-7	breast:
2	chr6:4064462..4067328-chr6:4134319..4137285,4	K562	blood:
3	chr6:4061052..4063122-chr6:4065712..4067920,2	K562	blood:
4	chr6:4063481..4065487-chr6:4065794..4068948,3	K562	blood:
5	chr6:4064462..4068135-chr6:4134400..4138606,5	K562	blood:
6	chr6:4063923..4066758-chr6:4130890..4132765,2	K562	blood:

Variant related genes	Relation type
ENSG00000254821	Chromatin interaction
ENSG00000234817	Chromatin interaction
ENSG00000112739	Chromatin interaction
ENSG00000198721	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12174184	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1408457	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1543355	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181894	1.00[JPT][hapmap]
rs2745452	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs3747761	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3747762	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3747763	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3761787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4466281	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4959916	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4959918	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4959919	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6900476	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6905475	0.90[ASN][1000 genomes]
rs6906467	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6910519	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6914180	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6924389	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6930892	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6933593	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6939049	1.00[JPT][hapmap]
rs6941706	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs697745	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707980	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707981	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707982	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707983	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707984	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707985	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707987	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs707988	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73349780	0.98[ASN][1000 genomes]
rs7744603	0.85[ASN][1000 genomes]
rs7763233	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs853396	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853397	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs853398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs853399	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs853400	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs853402	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs853403	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs853404	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs853405	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs853406	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs853407	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs853408	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs853411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs860477	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs860478	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9328215	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9328216	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9405693	0.87[CEU][hapmap]
rs9405694	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs942474	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9503893	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv462615	chr6:4052383-4096678	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv600860	chr6:4052383-4096678	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4023400-4071600	Weak transcription	Stomach Mucosa	stomach
2	chr6:4023800-4067000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:4030800-4066600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:4031000-4066400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:4031200-4066600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:4034000-4066800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:4036000-4066600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:4036000-4066600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr6:4037600-4066400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:4042000-4066400	Strong transcription	Adipose Nuclei	Adipose
11	chr6:4052000-4067000	Strong transcription	Primary B cells from cord blood	blood
12	chr6:4052400-4067400	Weak transcription	Psoas Muscle	Psoas
13	chr6:4056200-4066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:4056400-4066400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:4056600-4066800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:4058200-4075000	Weak transcription	Small Intestine	intestine
17	chr6:4059000-4066400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr6:4060000-4066400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:4060000-4067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:4060200-4066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:4060200-4067000	Strong transcription	Fetal Thymus	thymus
22	chr6:4060200-4067200	Weak transcription	Fetal Intestine Small	intestine
23	chr6:4060400-4066400	Weak transcription	Pancreas	Pancrea
24	chr6:4060400-4066600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:4060400-4066600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:4060400-4067000	Strong transcription	Primary T cells from cord blood	blood
27	chr6:4060400-4068200	Weak transcription	Ovary	ovary
28	chr6:4060600-4066400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:4060600-4066400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:4060600-4066400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr6:4060600-4066600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:4060600-4066800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:4060600-4067200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:4060800-4066400	Strong transcription	HMEC	breast
35	chr6:4060800-4066600	Strong transcription	NH-A	brain
36	chr6:4060800-4066600	Strong transcription	Osteobl	bone
37	chr6:4060800-4067000	Strong transcription	HSMM	muscle
38	chr6:4061400-4066800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:4061400-4067800	Weak transcription	Esophagus	oesophagus
40	chr6:4061600-4066400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:4061600-4068000	Weak transcription	Lung	lung
42	chr6:4061600-4068000	Weak transcription	Spleen	Spleen
43	chr6:4061600-4068600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:4062800-4068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr6:4062800-4068000	Weak transcription	Aorta	Aorta
46	chr6:4063000-4073000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:4063200-4066800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:4063200-4068000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:4063400-4067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:4063400-4068200	Weak transcription	Fetal Lung	lung

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