Variant report

Variant	rs12914723
Chromosome Location	chr15:59195743-59195744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59195509-59195759	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59195168..59198087-chr15:59207796..59210438,2	MCF-7	breast:
2	chr15:59194271..59195983-chr15:59200756..59202760,2	K562	blood:
3	chr15:59194003..59196406-chr15:59203765..59205746,2	K562	blood:

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	0.93[ASN][1000 genomes]
rs10518991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1078001	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1092172	0.92[EUR][1000 genomes]
rs11071400	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11071401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11630160	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11631540	0.90[CEU][hapmap]
rs11636723	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]
rs11637077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11856640	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11858989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12148858	0.90[ASN][1000 genomes]
rs12438918	0.81[EUR][1000 genomes]
rs12438961	0.84[EUR][1000 genomes]
rs12440904	0.94[EUR][1000 genomes]
rs12443436	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12595482	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12708456	0.89[ASN][1000 genomes]
rs12910580	0.90[CEU][hapmap]
rs12916751	0.86[ASN][1000 genomes]
rs1446240	0.85[CEU][hapmap]
rs17302038	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17302045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs173214	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2013117	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2270664	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2279719	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28473013	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28529423	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28538484	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28641638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28709922	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3145	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35477914	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs431414	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs4328375	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs4774315	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4775101	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs592407	0.91[EUR][1000 genomes]
rs604057	0.92[EUR][1000 genomes]
rs637918	0.85[EUR][1000 genomes]
rs677933	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs67851431	0.92[ASN][1000 genomes]
rs694918	0.90[EUR][1000 genomes]
rs71407077	0.92[ASN][1000 genomes]
rs7173317	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8029301	0.85[CEU][hapmap]
rs8035628	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs813219	0.88[EUR][1000 genomes]
rs813220	0.81[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	chr15:59168200-59202200	Strong transcription	Fetal Thymus	thymus
2	chr15:59168400-59206600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:59168400-59209600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:59168600-59195800	Strong transcription	Dnd41	blood
5	chr15:59168600-59202400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:59168600-59209800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:59168600-59220000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:59169000-59209800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:59169000-59210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:59169400-59210000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:59169400-59211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:59170000-59209400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr15:59170200-59210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:59170800-59224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:59171200-59200200	Strong transcription	Placenta	Placenta
17	chr15:59179800-59224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:59180800-59216400	Weak transcription	Stomach Mucosa	stomach
19	chr15:59182200-59224200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:59187000-59199000	Weak transcription	Psoas Muscle	Psoas
21	chr15:59192200-59223400	Weak transcription	Right Ventricle	heart
22	chr15:59192600-59198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:59192600-59199600	Weak transcription	Esophagus	oesophagus
24	chr15:59192600-59205800	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:59192600-59223400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:59192800-59196200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:59192800-59198400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:59192800-59198800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:59192800-59201000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:59192800-59221200	Weak transcription	Small Intestine	intestine
31	chr15:59192800-59223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:59192800-59224200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:59193000-59196000	Weak transcription	Gastric	stomach
34	chr15:59193000-59196000	Weak transcription	A549	lung
35	chr15:59193000-59197800	Weak transcription	Fetal Lung	lung
36	chr15:59193000-59198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:59193000-59198200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:59193000-59198600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:59193000-59199000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:59193000-59199000	Weak transcription	NHEK	skin
41	chr15:59193000-59199400	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:59193000-59199400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:59193000-59200800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:59193000-59201600	Weak transcription	Brain Substantia Nigra	brain
45	chr15:59193000-59201800	Weak transcription	Brain Angular Gyrus	brain
46	chr15:59193000-59201800	Weak transcription	Brain Anterior Caudate	brain
47	chr15:59193000-59203800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:59193000-59207000	Weak transcription	Brain Germinal Matrix	brain
49	chr15:59193000-59210000	Weak transcription	Ovary	ovary
50	chr15:59193000-59211200	Weak transcription	Pancreas	Pancrea

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