Variant report

Variant	rs859231
Chromosome Location	chr17:15796140-15796141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15791472..15794195-chr17:15796023..15798848,3	K562	blood:
2	chr17:15794544..15796258-chr17:15901823..15903663,2	MCF-7	breast:
3	chr17:15791535..15794057-chr17:15795691..15797755,2	MCF-7	breast:
4	chr17:15794765..15797289-chr17:15822819..15824762,2	MCF-7	breast:
5	chr17:15782611..15786264-chr17:15794710..15797679,3	MCF-7	breast:
6	chr17:15786537..15789462-chr17:15796062..15797687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1102644	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868331	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868613	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11869184	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11872072	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1622059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797463	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2041458	1.00[GIH][hapmap];0.82[MEX][hapmap]
rs2058366	1.00[EUR][1000 genomes]
rs2482988	1.00[EUR][1000 genomes]
rs2535600	1.00[EUR][1000 genomes]
rs2535602	1.00[EUR][1000 genomes]
rs2535604	1.00[EUR][1000 genomes]
rs2779190	1.00[EUR][1000 genomes]
rs2779191	1.00[EUR][1000 genomes]
rs2779194	1.00[EUR][1000 genomes]
rs2779195	1.00[GIH][hapmap]
rs2779203	1.00[EUR][1000 genomes]
rs3859259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4791645	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4791646	1.00[EUR][1000 genomes]
rs4791651	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4791654	1.00[EUR][1000 genomes]
rs4792695	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4792696	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4792697	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4792698	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs484520	1.00[EUR][1000 genomes]
rs500752	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs513190	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs708592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209188	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758854	1.00[EUR][1000 genomes]
rs758855	1.00[EUR][1000 genomes]
rs758856	1.00[EUR][1000 genomes]
rs758858	1.00[GIH][hapmap]
rs8079191	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs859225	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859227	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs859239	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs859241	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859246	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs859249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859250	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859259	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859261	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859262	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859267	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1993	chr17:15759198-15799029	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv510700	chr17:15788617-15798726	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv436221	chr17:15789445-15796766	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1830799	chr17:15789513-15796959	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1801208	chr17:15789804-15807280	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1810041	chr17:15789804-15807280	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1826171	chr17:15789804-15807280	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1829876	chr17:15789804-15807280	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1797005	chr17:15790100-15796140	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1807562	chr17:15790100-15796140	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1814518	chr17:15790100-15796140	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1811790	chr17:15790320-15807280	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15782600-15799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr17:15787600-15796200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:15789600-15796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:15790600-15797600	Weak transcription	Lung	lung
5	chr17:15790600-15800000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:15790800-15800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:15791000-15796200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:15795000-15798200	Enhancers	Pancreas	Pancrea
9	chr17:15795200-15796800	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:15795400-15796200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:15795600-15797600	Enhancers	HepG2	liver
12	chr17:15795800-15796600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:15795800-15796600	Enhancers	Gastric	stomach
14	chr17:15795800-15797200	Enhancers	Fetal Kidney	kidney
15	chr17:15795800-15797400	Enhancers	NH-A	brain
16	chr17:15795800-15797600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr17:15796000-15796400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:15796000-15796400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:15796000-15796400	Enhancers	Placenta	Placenta
20	chr17:15796000-15796400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr17:15796000-15796400	Enhancers	Stomach Smooth Muscle	stomach
22	chr17:15796000-15796400	Enhancers	HMEC	breast
23	chr17:15796000-15796400	Flanking Active TSS	Osteobl	bone
24	chr17:15796000-15796600	Enhancers	Fetal Intestine Large	intestine
25	chr17:15796000-15796600	Enhancers	Stomach Mucosa	stomach
26	chr17:15796000-15796600	Flanking Active TSS	A549	lung
27	chr17:15796000-15797000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr17:15796000-15797200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:15796000-15797800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:15796000-15798000	Enhancers	K562	blood
31	chr17:15796000-15811600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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