Variant report

Variant	rs10451452
Chromosome Location	chr19:56106221-56106222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56103233..56104833-chr19:56105149..56107018,2	MCF-7	breast:
2	chr19:56096999..56099797-chr19:56105951..56108003,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10403432	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10403462	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1079082	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1079083	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1079084	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1079085	0.85[ASN][1000 genomes]
rs11084402	0.82[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs11665826	0.86[ASN][1000 genomes]
rs11668725	0.84[ASN][1000 genomes]
rs11668729	0.84[ASN][1000 genomes]
rs11669682	0.86[ASN][1000 genomes]
rs11879347	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs12610510	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs12610512	0.82[ASN][1000 genomes]
rs12610709	0.88[ASN][1000 genomes]
rs12610881	0.85[ASN][1000 genomes]
rs12972159	0.86[ASN][1000 genomes]
rs12974617	0.83[ASN][1000 genomes]
rs12978375	0.84[ASN][1000 genomes]
rs12979354	0.86[ASN][1000 genomes]
rs12979366	0.86[ASN][1000 genomes]
rs12980543	0.86[ASN][1000 genomes]
rs2014329	0.81[ASN][1000 genomes]
rs2161456	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2864433	0.86[ASN][1000 genomes]
rs2902748	0.86[ASN][1000 genomes]
rs34174244	0.86[ASN][1000 genomes]
rs34715654	0.95[ASN][1000 genomes]
rs34937940	0.83[ASN][1000 genomes]
rs35088354	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs35197282	0.86[ASN][1000 genomes]
rs35522245	0.86[ASN][1000 genomes]
rs35839536	0.86[ASN][1000 genomes]
rs60220392	0.84[ASN][1000 genomes]
rs693289	0.84[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs71368855	0.82[ASN][1000 genomes]
rs71368856	0.82[ASN][1000 genomes]
rs7251733	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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 target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	esv3436946	chr19:56102240-56106638	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56097800-56106600	Weak transcription	Aorta	Aorta
2	chr19:56098800-56106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr19:56098800-56106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:56098800-56106600	Weak transcription	HSMMtube	muscle
5	chr19:56098800-56109800	Weak transcription	Fetal Heart	heart
6	chr19:56099000-56106800	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:56099000-56106800	Weak transcription	NHDF-Ad	bronchial
8	chr19:56099000-56107000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:56099200-56106400	Weak transcription	Fetal Brain Male	brain
10	chr19:56099200-56106400	Weak transcription	Fetal Kidney	kidney
11	chr19:56099200-56106400	Weak transcription	HepG2	liver
12	chr19:56099200-56106400	Weak transcription	HUVEC	blood vessel
13	chr19:56099200-56107000	Weak transcription	HMEC	breast
14	chr19:56099200-56110000	Weak transcription	Right Atrium	heart
15	chr19:56099400-56106400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:56099800-56110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:56099800-56110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:56100000-56106400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:56100000-56109800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:56102000-56109800	Strong transcription	Fetal Stomach	stomach
21	chr19:56102600-56106600	Strong transcription	Brain Germinal Matrix	brain
22	chr19:56102600-56109200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:56102600-56109200	Strong transcription	Fetal Brain Female	brain
24	chr19:56102600-56109200	Strong transcription	Fetal Thymus	thymus
25	chr19:56102600-56109800	Strong transcription	Fetal Intestine Small	intestine
26	chr19:56102800-56106400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:56102800-56106600	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:56102800-56106600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr19:56102800-56107200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:56102800-56107800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:56102800-56108600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr19:56102800-56108600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:56102800-56109000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:56102800-56109000	Strong transcription	Primary T cells from cord blood	blood
35	chr19:56102800-56109000	Strong transcription	Brain Cingulate Gyrus	brain
36	chr19:56102800-56109000	Strong transcription	Placenta	Placenta
37	chr19:56102800-56109000	Strong transcription	Ovary	ovary
38	chr19:56102800-56109200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:56102800-56109200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:56102800-56109200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:56102800-56109200	Strong transcription	Adipose Nuclei	Adipose
42	chr19:56102800-56109200	Strong transcription	Fetal Intestine Large	intestine
43	chr19:56102800-56109200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:56102800-56109400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:56102800-56109600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:56102800-56110600	Weak transcription	Stomach Mucosa	stomach
47	chr19:56103000-56108000	Strong transcription	Brain Anterior Caudate	brain
48	chr19:56103000-56108000	Strong transcription	Brain Hippocampus Middle	brain
49	chr19:56103000-56109000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:56103000-56109000	Strong transcription	Duodenum Mucosa	Duodenum

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