Variant report

Variant	rs17538469
Chromosome Location	chr12:32712577-32712578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32682843..32685838-chr12:32710494..32712764,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11052060	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17537634	1.00[ASW][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap]
rs17538095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17610602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928311	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298165	1.00[CHB][hapmap]
rs7965572	0.85[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	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
3	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
4	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
5	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
6	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
7	nsv973958	chr12:32712509-32726963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
3	chr12:32699600-32714800	Weak transcription	Fetal Intestine Large	intestine
4	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:32702800-32717200	Weak transcription	HUVEC	blood vessel
7	chr12:32703000-32717000	Weak transcription	HMEC	breast
8	chr12:32703000-32717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32703000-32719400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:32703200-32719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32703400-32713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:32704200-32712800	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:32704200-32712800	Weak transcription	Lung	lung
14	chr12:32704200-32719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:32704600-32714600	Weak transcription	Fetal Heart	heart
16	chr12:32707000-32712800	Weak transcription	Fetal Intestine Small	intestine
17	chr12:32710000-32714400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:32710400-32715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:32711000-32713000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:32711000-32713400	Enhancers	Brain Substantia Nigra	brain
21	chr12:32711000-32713800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:32711000-32714000	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:32711200-32713000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:32711200-32713000	Enhancers	NHLF	lung
25	chr12:32711200-32713400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:32711200-32713400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:32711400-32712600	Flanking Active TSS	Liver	Liver
28	chr12:32711400-32712600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:32711400-32712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:32711400-32713000	Enhancers	NHEK	skin
31	chr12:32711400-32713200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:32711400-32713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:32711400-32713200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:32711400-32713400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:32711400-32714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:32711400-32714800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:32711400-32715400	Enhancers	HepG2	liver
38	chr12:32711600-32712600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:32711600-32712600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:32711600-32712600	Enhancers	Primary B cells from cord blood	blood
41	chr12:32711600-32713000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:32711600-32713000	Enhancers	Brain Anterior Caudate	brain
43	chr12:32711600-32713000	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:32711600-32713000	Enhancers	Osteobl	bone
45	chr12:32711600-32713200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:32711600-32713400	Enhancers	Brain Angular Gyrus	brain
47	chr12:32711800-32712600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:32711800-32712600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:32711800-32712800	Weak transcription	Esophagus	oesophagus
50	chr12:32711800-32712800	Weak transcription	Left Ventricle	heart

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