Variant report

Variant	rs4759408
Chromosome Location	chr12:123715773-123715774
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123634123..123636368-chr12:123714378..123717139,2	MCF-7	breast:
2	chr12:123458067..123461017-chr12:123715728..123717607,2	MCF-7	breast:
3	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
4	chr12:123478491..123480718-chr12:123715406..123717168,2	MCF-7	breast:
5	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
6	chr12:123457894..123461734-chr12:123715409..123718960,7	K562	blood:
7	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
8	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
9	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
10	chr12:123474497..123476026-chr12:123715304..123717447,2	K562	blood:
11	chr12:123449477..123453379-chr12:123715163..123718004,4	MCF-7	breast:
12	chr12:123458147..123462549-chr12:123715608..123720287,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10732573	0.80[ASN][1000 genomes]
rs10734901	0.80[ASN][1000 genomes]
rs10744150	0.91[ASN][1000 genomes]
rs10744151	0.94[ASN][1000 genomes]
rs10744152	1.00[CEU][hapmap]
rs10772997	0.94[ASN][1000 genomes]
rs10772999	0.91[ASN][1000 genomes]
rs10773002	0.83[ASN][1000 genomes]
rs10846516	1.00[YRI][hapmap]
rs10846519	1.00[CEU][hapmap]
rs10846520	1.00[CEU][hapmap]
rs10846523	1.00[CEU][hapmap]
rs11057189	0.92[ASN][1000 genomes]
rs11057202	0.94[ASN][1000 genomes]
rs11057205	0.91[ASN][1000 genomes]
rs11057207	0.91[ASN][1000 genomes]
rs11057209	0.89[ASN][1000 genomes]
rs11057239	1.00[YRI][hapmap]
rs11057265	1.00[YRI][hapmap]
rs11057278	1.00[YRI][hapmap]
rs11057287	1.00[CEU][hapmap]
rs11554169	0.81[ASN][1000 genomes]
rs1568427	0.87[ASN][1000 genomes]
rs1609520	0.84[ASN][1000 genomes]
rs1626703	0.85[ASN][1000 genomes]
rs1727319	0.90[ASN][1000 genomes]
rs1727331	0.92[ASN][1000 genomes]
rs1727332	1.00[ASN][1000 genomes]
rs1790096	0.84[ASN][1000 genomes]
rs1790104	0.84[ASN][1000 genomes]
rs1969355	0.82[ASN][1000 genomes]
rs1980251	0.80[ASN][1000 genomes]
rs2090764	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2102949	0.91[ASN][1000 genomes]
rs2280424	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs28362667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28362669	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28414347	1.00[CEU][hapmap]
rs28501453	1.00[CEU][hapmap]
rs2851443	0.92[ASN][1000 genomes]
rs2851447	0.82[ASN][1000 genomes]
rs28587386	1.00[CEU][hapmap]
rs28595660	1.00[CEU][hapmap]
rs28613486	1.00[CEU][hapmap]
rs28698461	1.00[YRI][hapmap]
rs36121382	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759111	1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs3759113	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3759114	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3803001	1.00[CEU][hapmap]
rs3825141	1.00[CEU][hapmap]
rs4148857	1.00[YRI][hapmap]
rs4148859	1.00[YRI][hapmap]
rs4148864	1.00[YRI][hapmap]
rs4148865	1.00[YRI][hapmap]
rs4460848	0.91[ASN][1000 genomes]
rs4474478	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4474479	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4594040	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4759367	1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4759372	0.82[ASN][1000 genomes]
rs4759406	0.91[ASN][1000 genomes]
rs4759407	1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4759411	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs4759413	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs4759414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs4759418	0.83[ASN][1000 genomes]
rs57676984	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991895	0.84[AMR][1000 genomes]
rs60077920	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60296110	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61041384	0.84[AMR][1000 genomes]
rs61187102	0.84[AMR][1000 genomes]
rs61231969	0.83[ASN][1000 genomes]
rs61519741	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6488869	1.00[CEU][hapmap]
rs6488870	1.00[CEU][hapmap]
rs7137286	0.91[ASN][1000 genomes]
rs7297649	1.00[CEU][hapmap]
rs7304782	0.94[ASN][1000 genomes]
rs7959415	1.00[CEU][hapmap]
rs9284166	1.00[CEU][hapmap]
rs9795593	1.00[CEU][hapmap]

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	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats 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	70 gene(s)	inside rSNPs	diseases
6	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
2	chr12:123637200-123716400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:123650600-123716400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:123680600-123716600	Weak transcription	Colonic Mucosa	Colon
5	chr12:123687800-123716600	Weak transcription	Gastric	stomach
6	chr12:123687800-123716600	Weak transcription	Pancreas	Pancrea
7	chr12:123687800-123717000	Weak transcription	Aorta	Aorta
8	chr12:123690800-123716000	Weak transcription	Psoas Muscle	Psoas
9	chr12:123694600-123716800	Weak transcription	Ovary	ovary
10	chr12:123698400-123716600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:123699200-123716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:123699200-123716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:123699400-123716400	Weak transcription	HSMM	muscle
14	chr12:123699600-123716400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:123699600-123716600	Weak transcription	Spleen	Spleen
16	chr12:123699600-123716600	Weak transcription	HSMMtube	muscle
17	chr12:123705000-123716600	Weak transcription	Lung	lung
18	chr12:123705200-123716200	Weak transcription	NHEK	skin
19	chr12:123706400-123716400	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:123706600-123716400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:123706600-123716400	Weak transcription	HMEC	breast
22	chr12:123706800-123716000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:123706800-123717000	Weak transcription	Small Intestine	intestine
24	chr12:123707000-123716000	Weak transcription	Left Ventricle	heart
25	chr12:123707200-123716400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:123707400-123716200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:123707400-123716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123708000-123716400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:123708200-123716000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:123708200-123716000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:123708200-123716000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:123708200-123716000	Weak transcription	Brain Substantia Nigra	brain
33	chr12:123708200-123716200	Weak transcription	Fetal Kidney	kidney
34	chr12:123708200-123716400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:123708200-123716400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:123708200-123716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:123708200-123716400	Weak transcription	Right Ventricle	heart
38	chr12:123708200-123716400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:123708200-123716600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:123708200-123716600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:123708200-123716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:123708400-123716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:123708600-123716400	Weak transcription	NHLF	lung
44	chr12:123709400-123716000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:123709400-123716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:123709600-123716200	Weak transcription	Fetal Lung	lung
47	chr12:123709600-123716400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:123709600-123716400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:123709600-123716400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:123709600-123716600	Weak transcription	Placenta	Placenta

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