Variant report

Variant	rs17538032
Chromosome Location	chr12:32702469-32702470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10844243	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10844246	1.00[JPT][hapmap]
rs11052092	1.00[JPT][hapmap]
rs16920058	1.00[JPT][hapmap]
rs4569085	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100112	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73100117	0.94[AMR][1000 genomes];1.00[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	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:32696000-32702600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:32696000-32704200	Enhancers	Ovary	ovary
6	chr12:32696200-32702800	Enhancers	Liver	Liver
7	chr12:32697400-32704200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:32697800-32703200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
10	chr12:32699200-32704200	Enhancers	Left Ventricle	heart
11	chr12:32699200-32705600	Enhancers	Psoas Muscle	Psoas
12	chr12:32699400-32702600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:32699400-32704200	Enhancers	Lung	lung
14	chr12:32699600-32714800	Weak transcription	Fetal Intestine Large	intestine
15	chr12:32700000-32711400	Weak transcription	HepG2	liver
16	chr12:32700600-32703600	Enhancers	Fetal Muscle Leg	muscle
17	chr12:32700800-32702600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:32701000-32702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:32701000-32702600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:32701000-32702600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:32701000-32702600	Enhancers	NH-A	brain
22	chr12:32701000-32702800	Enhancers	HUVEC	blood vessel
23	chr12:32701000-32703000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:32701000-32703000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:32701000-32703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:32701000-32703000	Enhancers	Fetal Lung	lung
27	chr12:32701000-32703000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:32701000-32703200	Enhancers	Stomach Mucosa	stomach
29	chr12:32701200-32702600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr12:32701200-32703000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:32701200-32703000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:32701200-32703000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr12:32701200-32703000	Enhancers	HMEC	breast
34	chr12:32701400-32702600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:32701400-32702600	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:32701400-32703000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:32701400-32703000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:32701400-32703000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:32701400-32703000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:32701400-32703000	Enhancers	Fetal Stomach	stomach
41	chr12:32701400-32703200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:32701400-32703200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr12:32701400-32703200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr12:32701600-32702600	Enhancers	Colon Smooth Muscle	Colon
45	chr12:32701600-32702600	Enhancers	Fetal Brain Male	brain
46	chr12:32701600-32702800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:32701600-32702800	Enhancers	Placenta	Placenta
48	chr12:32701600-32702800	Enhancers	Right Atrium	heart
49	chr12:32701600-32703000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:32701600-32703000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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