Variant report

Variant	rs61927246
Chromosome Location	chr12:32668215-32668216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32652717..32654744-chr12:32667821..32669805,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10444425	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11052030	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11052033	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11052035	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11052036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11052043	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052051	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052056	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052058	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12367520	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3850983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61927245	0.96[EUR][1000 genomes]
rs61928288	0.89[AMR][1000 genomes];0.87[EUR][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	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32659600-32675200	Weak transcription	Fetal Stomach	stomach
5	chr12:32659800-32669000	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:32661200-32675600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:32661400-32668800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:32661800-32674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:32661800-32674000	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:32662000-32671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:32662000-32674800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:32662000-32675600	Weak transcription	Fetal Brain Male	brain
13	chr12:32663000-32669200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:32663000-32674600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:32663200-32673800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:32665400-32670000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:32665800-32675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:32666400-32675600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:32666600-32674600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:32666600-32685200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:32666800-32668600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:32667200-32669200	Enhancers	Fetal Heart	heart
23	chr12:32667400-32668400	Enhancers	Left Ventricle	heart
24	chr12:32667400-32668400	Enhancers	Pancreas	Pancrea
25	chr12:32667600-32670200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:32667800-32668400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:32667800-32668400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:32667800-32668800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:32667800-32668800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:32667800-32669200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:32667800-32669200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:32667800-32669400	Enhancers	Right Atrium	heart
33	chr12:32667800-32670000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:32668000-32668400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:32668000-32668400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:32668000-32668400	Enhancers	Ovary	ovary
37	chr12:32668000-32668400	Enhancers	HUVEC	blood vessel
38	chr12:32668000-32668600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:32668000-32668600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:32668000-32668600	Enhancers	Fetal Intestine Small	intestine
41	chr12:32668000-32668600	Enhancers	Psoas Muscle	Psoas
42	chr12:32668000-32668800	Enhancers	Fetal Intestine Large	intestine
43	chr12:32668000-32669200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:32668000-32669200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:32668000-32669200	Enhancers	Liver	Liver
46	chr12:32668000-32669400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32668000-32669400	Enhancers	Fetal Thymus	thymus
48	chr12:32668000-32669400	Enhancers	Stomach Mucosa	stomach
49	chr12:32668000-32669800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:32668000-32670000	Enhancers	HUES48 Cell Line	embryonic stem cell

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