Variant report

Variant	rs2243815
Chromosome Location	chr12:32576158-32576159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1055876	0.81[CEU][hapmap]
rs10844200	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10844201	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12229856	0.81[CEU][hapmap]
rs1500874	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1809912	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1809913	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1872829	0.86[CEU][hapmap]
rs2062602	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2088806	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2088807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2171373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389035	0.96[AFR][1000 genomes]
rs2389036	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2467065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2470382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2651360	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2651361	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2651362	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2651363	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2651369	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2651378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2651379	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2728669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2728671	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2728673	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2728674	0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2728680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2728682	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2728683	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2728684	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2728713	0.81[AMR][1000 genomes]
rs2733682	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2958117	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs325417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488050	0.81[CEU][hapmap]
rs6488051	0.86[CEU][hapmap]
rs7296118	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs904917	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs950079	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs950080	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs950081	0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs950082	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv469347	chr12:32555846-32602079	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv558189	chr12:32555846-32602079	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:32571600-32576800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:32573000-32576800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:32573000-32577600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:32573000-32582200	Weak transcription	Ovary	ovary
6	chr12:32573400-32582000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:32573400-32582400	Weak transcription	Pancreas	Pancrea
8	chr12:32573400-32583600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:32573400-32587000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:32573400-32593400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:32574600-32578000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:32574600-32578400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:32574800-32578400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:32574800-32579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:32574800-32587200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:32575200-32576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:32575400-32576200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:32575400-32576400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:32575400-32576400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:32575400-32576800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:32575400-32576800	Enhancers	HUVEC	blood vessel
22	chr12:32575600-32576200	Flanking Active TSS	A549	lung
23	chr12:32575600-32576200	Enhancers	HMEC	breast
24	chr12:32575600-32576200	Enhancers	NHEK	skin
25	chr12:32575600-32576400	Enhancers	Adipose Nuclei	Adipose
26	chr12:32575600-32583800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:32575800-32576200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr12:32575800-32576200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:32575800-32576200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:32575800-32576200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:32575800-32576200	Enhancers	Stomach Mucosa	stomach
32	chr12:32575800-32576200	Enhancers	Hela-S3	cervix
33	chr12:32575800-32576200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:32575800-32577400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:32575800-32577600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:32576000-32576200	Enhancers	Placenta	Placenta
37	chr12:32576000-32576400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:32576000-32576600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:32576000-32576800	Enhancers	K562	blood
40	chr12:32576000-32582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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