Variant report

Variant	rs729786
Chromosome Location	chr17:46060231-46060232
allele	G/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46059324..46060988-chr17:46072886..46074835,2	K562	blood:
2	chr17:46026295..46027225-chr17:46059476..46060457,2	K562	blood:
3	chr17:46058567..46060274-chr17:46094283..46095941,2	K562	blood:
4	chr17:46053682..46056585-chr17:46059998..46062709,2	K562	blood:
5	chr17:46048621..46053225-chr17:46056317..46060413,5	K562	blood:
6	chr17:46059948..46063060-chr17:46063175..46066138,4	MCF-7	breast:
7	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
8	chr17:46058567..46062223-chr17:46094441..46097254,3	K562	blood:
9	chr17:46033345..46035913-chr17:46058791..46060752,2	MCF-7	breast:
10	chr17:46059865..46061717-chr17:46063064..46066103,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264701	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11079804	0.88[CHB][hapmap]
rs11545723	0.94[CHB][hapmap]
rs1476578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476579	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17617250	0.88[CHB][hapmap]
rs2003477	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003478	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255697	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255815	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2525084	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525085	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525087	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525091	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525092	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525094	0.81[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525096	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2525098	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs2597161	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597165	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597168	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597171	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597180	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2597181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905845	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2905846	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905848	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905850	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905853	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34190379	0.94[ASN][1000 genomes]
rs35653190	0.83[ASN][1000 genomes]
rs4793734	0.94[CHB][hapmap]
rs4794225	0.82[CHB][hapmap]
rs62064873	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6503949	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737130	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs739853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7406338	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7503584	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs8076314	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885634	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46050200-46060400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:46050200-46060400	Strong transcription	Osteobl	bone
4	chr17:46050200-46061800	Strong transcription	NHLF	lung
5	chr17:46050200-46062000	Strong transcription	NHEK	skin
6	chr17:46050200-46062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr17:46050200-46062800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:46050200-46063000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr17:46050200-46063400	Strong transcription	Fetal Stomach	stomach
10	chr17:46050400-46060800	Strong transcription	Ovary	ovary
11	chr17:46050400-46061000	Strong transcription	A549	lung
12	chr17:46050400-46061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:46050400-46061400	Strong transcription	HepG2	liver
14	chr17:46050400-46062000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:46050400-46062200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:46050400-46063000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:46050600-46061800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr17:46050600-46062200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:46050600-46062200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:46050800-46060800	Strong transcription	Lung	lung
21	chr17:46050800-46061000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr17:46050800-46061200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr17:46050800-46061600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:46050800-46061600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:46050800-46061800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:46050800-46062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:46050800-46062000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr17:46050800-46062200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:46050800-46062400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:46050800-46062600	Strong transcription	Fetal Intestine Small	intestine
31	chr17:46050800-46062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:46050800-46063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:46050800-46063000	Strong transcription	Fetal Muscle Leg	muscle
34	chr17:46051000-46060800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:46051000-46061000	Strong transcription	Rectal Smooth Muscle	rectum
36	chr17:46051000-46061800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr17:46051000-46062000	Strong transcription	Primary B cells from cord blood	blood
38	chr17:46051000-46062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr17:46051000-46062200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr17:46051000-46063000	Strong transcription	Primary T cells from cord blood	blood
41	chr17:46051000-46063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:46051200-46060400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr17:46051200-46060600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:46051200-46060800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr17:46051200-46061000	Strong transcription	Brain Substantia Nigra	brain
46	chr17:46051200-46061000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:46051200-46061200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:46051200-46062000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:46051400-46060400	Strong transcription	Fetal Lung	lung
50	chr17:46051400-46060400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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