Variant report

Variant	rs12367135
Chromosome Location	chr12:32602079-32602080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32597976..32599716-chr12:32601227..32603938,2	K562	blood:
2	chr12:32552564..32554101-chr12:32601204..32602823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

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]
rs12819555	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566513	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2047643	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2388991	0.88[CEU][hapmap];0.90[CHB][hapmap]
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: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	nsv469347	chr12:32555846-32602079	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv558189	chr12:32555846-32602079	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 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	chr12:32595000-32605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:32595800-32604800	Enhancers	HUVEC	blood vessel
6	chr12:32596000-32608800	Weak transcription	Psoas Muscle	Psoas
7	chr12:32596200-32602600	Enhancers	HMEC	breast
8	chr12:32597000-32602600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:32597600-32602600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:32598200-32606400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:32598400-32602400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:32598400-32603600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:32598400-32603800	Weak transcription	HSMM	muscle
14	chr12:32599600-32603400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:32599800-32603200	Weak transcription	Small Intestine	intestine
16	chr12:32599800-32605600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:32599800-32605800	Weak transcription	Ovary	ovary
18	chr12:32599800-32608400	Weak transcription	Brain Substantia Nigra	brain
19	chr12:32600000-32602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:32600000-32602400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:32600000-32603400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:32600000-32603400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:32600000-32603600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:32600000-32603800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:32600000-32603800	Weak transcription	Spleen	Spleen
26	chr12:32600000-32605000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:32600000-32605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:32600000-32605600	Weak transcription	Pancreas	Pancrea
29	chr12:32600000-32605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:32600000-32605800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:32600000-32605800	Weak transcription	Left Ventricle	heart
32	chr12:32600000-32605800	Weak transcription	Right Atrium	heart
33	chr12:32600000-32606200	Weak transcription	Lung	lung
34	chr12:32600000-32606400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:32600000-32606800	Weak transcription	Colonic Mucosa	Colon
36	chr12:32600000-32607200	Weak transcription	Fetal Kidney	kidney
37	chr12:32600000-32608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:32600600-32602200	Weak transcription	Fetal Intestine Small	intestine
39	chr12:32600600-32603400	Weak transcription	Fetal Intestine Large	intestine
40	chr12:32600800-32603400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:32600800-32605600	Weak transcription	Gastric	stomach
42	chr12:32601000-32603200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:32601000-32605600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:32601000-32606800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:32601200-32603400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:32601200-32603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:32601200-32603400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:32601200-32603400	Weak transcription	A549	lung
49	chr12:32601200-32603600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:32601400-32602600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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