Variant report

Variant	rs2389037
Chromosome Location	chr12:32644302-32644303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1032725	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444424	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743796	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771958	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844217	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844218	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844219	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844220	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532657	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1964035	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296494	0.92[CEU][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961107	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961486	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7977566	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1795417	chr12:32635183-32648257	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32621800-32654000	Weak transcription	Lung	lung
3	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:32634000-32655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:32636800-32646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:32636800-32650800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:32637200-32646000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:32639000-32655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:32639400-32647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:32639400-32653800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:32639400-32653800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:32639400-32653800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:32639600-32646400	Weak transcription	Fetal Intestine Large	intestine
15	chr12:32640000-32647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:32640200-32651000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:32640800-32645800	Weak transcription	Left Ventricle	heart
18	chr12:32640800-32646200	Weak transcription	Gastric	stomach
19	chr12:32640800-32646200	Weak transcription	Pancreas	Pancrea
20	chr12:32640800-32646200	Weak transcription	Psoas Muscle	Psoas
21	chr12:32640800-32647600	Weak transcription	Right Atrium	heart
22	chr12:32641000-32647600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:32641000-32651000	Weak transcription	Fetal Intestine Small	intestine
24	chr12:32641200-32644600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:32641200-32653800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:32642000-32647200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:32642200-32646200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:32642200-32646600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:32642400-32644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:32643000-32646800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:32643200-32650000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:32643400-32644600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:32643600-32644400	Enhancers	Stomach Mucosa	stomach
34	chr12:32643600-32644800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:32643600-32645200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:32643600-32645200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:32643600-32645400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:32643600-32646000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:32643600-32646000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:32643800-32644400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:32643800-32644800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:32643800-32646200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr12:32644000-32645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:32644000-32653800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:32644200-32644400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr12:32644200-32644400	Enhancers	Right Ventricle	heart
47	chr12:32644200-32644600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:32644200-32644600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:32644200-32645600	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:32644200-32646000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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