Variant report

Variant	rs11636723
Chromosome Location	chr15:59206518-59206519
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59206460-59206916	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59200337..59203296-chr15:59205002..59207680,2	K562	blood:
2	chr15:59204944..59207520-chr15:59224526..59227454,2	K562	blood:
3	chr15:59205247..59208199-chr15:59214036..59216910,3	K562	blood:
4	chr15:59204944..59209018-chr15:59223573..59227454,4	K562	blood:
5	chr15:59202614..59206575-chr15:59224317..59226928,5	MCF-7	breast:

No data

Variant related genes	Relation type
SLTM	TF binding region
ENSG00000137776	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10162821	0.94[ASN][1000 genomes]
rs10518991	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518992	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078001	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1092172	0.95[EUR][1000 genomes]
rs11071400	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11071401	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630160	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11631540	0.90[CEU][hapmap]
rs11637077	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11856640	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11858989	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148858	0.92[ASN][1000 genomes]
rs12438918	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438961	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12440904	0.97[EUR][1000 genomes]
rs12443436	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12595482	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12708456	0.92[ASN][1000 genomes]
rs12910580	0.90[CEU][hapmap]
rs12914723	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12916751	0.89[ASN][1000 genomes]
rs1446240	0.85[CEU][hapmap]
rs17302038	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17302045	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173214	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2013117	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2270664	0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2279719	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28473013	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529423	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538484	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28641638	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28709922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3145	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs35477914	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs431414	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs4328375	0.90[CEU][hapmap]
rs4774315	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4775101	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs592407	0.94[EUR][1000 genomes]
rs604057	0.95[EUR][1000 genomes]
rs637918	0.88[EUR][1000 genomes]
rs677933	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs67851431	0.95[ASN][1000 genomes]
rs694918	0.93[EUR][1000 genomes]
rs71407077	0.95[ASN][1000 genomes]
rs7173317	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029301	0.85[CEU][hapmap]
rs8035628	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs813219	0.91[EUR][1000 genomes]
rs813220	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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	48 gene(s)	inside rSNPs	diseases
6	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59168400-59206600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:59168400-59209600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:59168600-59209800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:59168600-59220000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:59169000-59209800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:59169000-59210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:59169400-59210000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:59169400-59211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:59170000-59209400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:59170200-59210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:59170800-59224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:59179800-59224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:59180800-59216400	Weak transcription	Stomach Mucosa	stomach
15	chr15:59182200-59224200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:59192200-59223400	Weak transcription	Right Ventricle	heart
17	chr15:59192600-59223400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:59192800-59221200	Weak transcription	Small Intestine	intestine
19	chr15:59192800-59223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:59192800-59224200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:59193000-59207000	Weak transcription	Brain Germinal Matrix	brain
22	chr15:59193000-59210000	Weak transcription	Ovary	ovary
23	chr15:59193000-59211200	Weak transcription	Pancreas	Pancrea
24	chr15:59193000-59217000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:59193000-59219000	Weak transcription	Spleen	Spleen
26	chr15:59193000-59223200	Weak transcription	Aorta	Aorta
27	chr15:59193000-59223200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:59193000-59224200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:59193000-59224200	Weak transcription	Colonic Mucosa	Colon
30	chr15:59193000-59224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:59193200-59206600	Weak transcription	Lung	lung
32	chr15:59193200-59209000	Weak transcription	Fetal Brain Male	brain
33	chr15:59193200-59210600	Weak transcription	Fetal Heart	heart
34	chr15:59193200-59211200	Weak transcription	Left Ventricle	heart
35	chr15:59194000-59223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr15:59194200-59216800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:59195400-59209800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:59195600-59210200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:59195600-59215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:59196000-59208200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr15:59196400-59209200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:59197000-59206600	Weak transcription	Thymus	Thymus
43	chr15:59197200-59225000	Weak transcription	Gastric	stomach
44	chr15:59197400-59206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:59199000-59208200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr15:59199000-59209400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:59199800-59217000	Weak transcription	Psoas Muscle	Psoas
48	chr15:59199800-59224200	Weak transcription	Esophagus	oesophagus
49	chr15:59200600-59224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:59200800-59206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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