Variant report

Variant	rs2473613
Chromosome Location	chr6:34892035-34892036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34891666..34893180-chr6:34904331..34907073,2	K562	blood:
2	chr6:34884853..34887138-chr6:34887416..34892086,4	K562	blood:
3	chr6:34887280..34889976-chr6:34890282..34893090,2	K562	blood:
4	chr6:34888117..34890171-chr6:34891285..34893271,2	K562	blood:
5	chr6:34891713..34895604-chr6:34895784..34899746,4	K562	blood:
6	chr6:34856254..34858967-chr6:34891774..34893975,2	MCF-7	breast:
7	chr6:34882380..34884739-chr6:34891230..34893297,2	MCF-7	breast:
8	chr6:34855243..34858373-chr6:34889287..34893128,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000064995	Chromatin interaction
ENSG00000064999	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1051115	0.83[YRI][hapmap]
rs10947536	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap]
rs12212217	0.87[CHB][hapmap];0.96[YRI][hapmap]
rs13191009	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13218101	0.92[ASN][1000 genomes]
rs13219624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1555107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16896390	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1737727	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2140418	0.86[CHB][hapmap];0.96[YRI][hapmap]
rs2177381	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap]
rs2273006	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293242	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2504162	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2985	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3734262	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3800451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646933	0.82[YRI][hapmap]
rs4646940	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646944	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6457797	0.82[YRI][hapmap]
rs6905468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6907619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6918183	0.91[ASN][1000 genomes]
rs6918872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6932857	0.96[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6941065	0.81[YRI][hapmap]
rs7739385	0.83[YRI][hapmap]
rs7739991	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7757211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847847	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9296139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9368836	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9394252	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34874400-34893200	Weak transcription	Fetal Intestine Large	intestine
3	chr6:34874800-34896000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:34877800-34892200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
6	chr6:34878000-34896400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:34879600-34892200	Weak transcription	Fetal Intestine Small	intestine
8	chr6:34879600-34892200	Weak transcription	Fetal Kidney	kidney
9	chr6:34879600-34893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:34879600-34896800	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:34879800-34893000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:34880800-34893400	Weak transcription	Fetal Thymus	thymus
13	chr6:34881000-34898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:34881200-34893000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:34881400-34896600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:34885200-34894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:34885600-34894400	Weak transcription	Placenta	Placenta
20	chr6:34885800-34892600	Weak transcription	Liver	Liver
21	chr6:34885800-34895400	Weak transcription	Gastric	stomach
22	chr6:34885800-34902200	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:34885800-34902400	Weak transcription	Fetal Stomach	stomach
24	chr6:34886200-34892400	Weak transcription	HepG2	liver
25	chr6:34886400-34893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:34886400-34902400	Weak transcription	Aorta	Aorta
27	chr6:34886400-34902600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
29	chr6:34887000-34902800	Weak transcription	Lung	lung
30	chr6:34887400-34892200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:34887400-34895400	Weak transcription	Ovary	ovary
32	chr6:34887400-34902400	Weak transcription	Psoas Muscle	Psoas
33	chr6:34887600-34894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:34887600-34894000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:34887600-34894400	Weak transcription	NHLF	lung
36	chr6:34887600-34902600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:34887800-34894000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:34887800-34894200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:34887800-34894400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:34887800-34895400	Weak transcription	Right Atrium	heart
41	chr6:34887800-34895800	Weak transcription	Fetal Heart	heart
42	chr6:34887800-34896000	Weak transcription	Spleen	Spleen
43	chr6:34888000-34894400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:34888000-34902200	Weak transcription	Adipose Nuclei	Adipose
45	chr6:34888800-34893000	Weak transcription	Left Ventricle	heart
46	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
47	chr6:34890400-34894000	Weak transcription	Right Ventricle	heart
48	chr6:34890400-34894000	Weak transcription	Osteobl	bone
49	chr6:34890400-34894200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:34890400-34894400	Weak transcription	NHDF-Ad	bronchial

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