Variant report

Variant	rs12819555
Chromosome Location	chr12:32605501-32605502
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	chr12:32603040..32606012-chr12:32608738..32610479,2	K562	blood:

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

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

rs_ID	r²[population]
rs10844202	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11052006	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12367135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809847	0.80[AFR][1000 genomes]
rs2047643	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61927215	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7299524	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7971525	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs883404	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32592600-32608600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:32594000-32608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
4	chr12:32596000-32608800	Weak transcription	Psoas Muscle	Psoas
5	chr12:32598200-32606400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:32599800-32605600	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:32599800-32605800	Weak transcription	Ovary	ovary
8	chr12:32599800-32608400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:32600000-32605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:32600000-32605600	Weak transcription	Pancreas	Pancrea
11	chr12:32600000-32605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:32600000-32605800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:32600000-32605800	Weak transcription	Left Ventricle	heart
14	chr12:32600000-32605800	Weak transcription	Right Atrium	heart
15	chr12:32600000-32606200	Weak transcription	Lung	lung
16	chr12:32600000-32606400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:32600000-32606800	Weak transcription	Colonic Mucosa	Colon
18	chr12:32600000-32607200	Weak transcription	Fetal Kidney	kidney
19	chr12:32600000-32608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:32600800-32605600	Weak transcription	Gastric	stomach
21	chr12:32601000-32605600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:32601000-32606800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:32601800-32608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:32601800-32629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:32603400-32606400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:32603400-32606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:32603400-32607200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:32603400-32607200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:32603800-32606600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:32604000-32605600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:32604000-32605800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:32604000-32606400	Weak transcription	HSMM	muscle
34	chr12:32604000-32606800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:32604000-32606800	Weak transcription	Adipose Nuclei	Adipose
36	chr12:32604000-32607000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:32604000-32607600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:32604000-32609200	Weak transcription	Small Intestine	intestine
39	chr12:32604200-32606400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:32604200-32606400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:32604200-32608600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:32604200-32608600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:32604200-32608600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:32604200-32608600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:32604400-32606600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:32604400-32606800	Weak transcription	A549	lung
47	chr12:32604600-32606400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:32604800-32606400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:32604800-32610000	Enhancers	Fetal Intestine Large	intestine
50	chr12:32605000-32605600	Enhancers	Stomach Mucosa	stomach

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