Variant report

Variant	rs12908610
Chromosome Location	chr15:72776944-72776945
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72770833..72775652-chr15:72776654..72780093,7	K562	blood:
2	chr15:72773245..72779445-chr15:72780758..72788014,8	K562	blood:
3	chr15:72770264..72772292-chr15:72776919..72779062,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10744963	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10851858	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11072365	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1133316	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1160608	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11631125	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637103	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11638897	0.85[AMR][1000 genomes]
rs11855682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12439018	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12439127	0.81[AMR][1000 genomes]
rs12441929	1.00[JPT][hapmap]
rs12910393	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12912445	0.80[AMR][1000 genomes]
rs12913503	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1374092	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1562250	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812842	0.83[AMR][1000 genomes]
rs2278694	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415136	0.83[AMR][1000 genomes]
rs2415137	0.83[AMR][1000 genomes]
rs2415139	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415141	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4146285	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4776601	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777512	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777520	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6495011	0.81[EUR][1000 genomes]
rs7167521	0.85[EUR][1000 genomes]
rs7174287	0.80[ASN][1000 genomes]
rs7496556	0.84[CEU][hapmap]
rs8026681	0.81[AMR][1000 genomes]
rs8030499	0.80[AMR][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	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
2	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72768400-72785400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:72768400-72793400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72769200-72777600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:72769200-72778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:72769200-72779200	Weak transcription	NHLF	lung
6	chr15:72769200-72792000	Weak transcription	Fetal Kidney	kidney
7	chr15:72769600-72777600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:72769600-72779600	Weak transcription	Stomach Mucosa	stomach
9	chr15:72769600-72779600	Weak transcription	HSMMtube	muscle
10	chr15:72769600-72797000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:72769600-72832200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:72769800-72782800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:72769800-72805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:72770000-72778400	Weak transcription	NH-A	brain
15	chr15:72770000-72786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:72770200-72788600	Weak transcription	Brain Germinal Matrix	brain
17	chr15:72770400-72779400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:72770400-72780000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:72770400-72782600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:72771000-72781200	Weak transcription	Fetal Intestine Large	intestine
21	chr15:72771200-72778400	Weak transcription	HMEC	breast
22	chr15:72771200-72778800	Weak transcription	Fetal Brain Female	brain
23	chr15:72771200-72780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:72771400-72779400	Weak transcription	NHDF-Ad	bronchial
25	chr15:72771400-72782800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:72771400-72792000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:72771600-72778000	Weak transcription	Osteobl	bone
28	chr15:72771600-72778800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:72771600-72779800	Weak transcription	HepG2	liver
30	chr15:72771600-72780800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:72771600-72826000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr15:72771800-72781000	Weak transcription	Fetal Lung	lung
33	chr15:72772000-72778800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:72772000-72779600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:72772000-72781600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:72772000-72782400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:72772000-72792000	Weak transcription	Placenta	Placenta
38	chr15:72772200-72778200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:72772200-72780000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:72772200-72780800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr15:72772200-72781800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:72772200-72791800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:72772200-72794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:72772400-72780800	Weak transcription	Fetal Thymus	thymus
45	chr15:72772400-72791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:72772600-72781200	Weak transcription	Lung	lung
47	chr15:72772600-72820800	Weak transcription	Thymus	Thymus
48	chr15:72772800-72782200	Weak transcription	Fetal Brain Male	brain
49	chr15:72773000-72817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:72773000-72819600	Weak transcription	H1 Cell Line	embryonic stem cell

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