Variant report

Variant	rs10082967
Chromosome Location	chr12:122211782-122211783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:122211332-122211817	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr12:122210470-122212001	A549	lung:	n/a	n/a
3	TEAD4	chr12:122210780-122211893	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr12:122210947-122211785	ECC-1	luminal epithelium:	n/a	chr12:122211592-122211599
5	CTCF	chr12:122211680-122211830	NHLF	lung:	n/a	n/a
6	CTCF	chr12:122210662-122211946	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr12:122210998-122211845	ECC-1	luminal epithelium:	n/a	chr12:122211592-122211599
8	TFAP2C	chr12:122211059-122211854	Hela-S3	cervix:	n/a	chr12:122211604-122211619
9	RAD21	chr12:122210853-122211846	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr12:122211079-122211838	ECC-1	luminal epithelium:	n/a	n/a
11	TFAP2A	chr12:122211109-122211815	Hela-S3	cervix:	n/a	chr12:122211607-122211619 chr12:122211607-122211619 chr12:122211607-122211619 chr12:122211604-122211619 chr12:122211607-122211619
12	SMC3	chr12:122210695-122211856	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122210394..122211915-chr8:144681811..144685202,3	MCF-7	breast:
2	chr12:122186493..122188379-chr12:122211134..122213755,2	K562	blood:
3	chr12:122134705..122135736-chr12:122210853..122211809,10	MCF-7	breast:
4	chr12:122139766..122142322-chr12:122210806..122212590,2	MCF-7	breast:
5	chr12:122209495..122213691-chr12:122231244..122236279,5	K562	blood:
6	chr12:122203162..122205076-chr12:122211295..122213283,2	K562	blood:
7	chr12:122134674..122135744-chr12:122210813..122211800,14	K562	blood:
8	chr12:122154851..122156894-chr12:122210970..122213688,2	MCF-7	breast:
9	chr12:122191495..122194594-chr12:122209584..122212747,5	MCF-7	breast:
10	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
11	chr12:122202494..122205546-chr12:122209395..122213283,3	K562	blood:

Variant related genes	Relation type
TMEM120B	TF binding region
ENSG00000188735	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000271912	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1064169	0.84[JPT][hapmap]
rs11043195	0.82[JPT][hapmap]
rs11043196	0.84[JPT][hapmap]
rs15797	0.84[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34623055	0.91[EUR][1000 genomes]
rs3893308	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs7314742	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	esv1808272	chr12:122208492-122216042	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10082967	RHOF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
2	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:122190400-122217000	Weak transcription	Esophagus	oesophagus
5	chr12:122195000-122212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:122195000-122213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:122200800-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122204200-122213400	Weak transcription	Lung	lung
9	chr12:122204600-122215400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:122206000-122216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:122206400-122211800	Enhancers	Adipose Nuclei	Adipose
12	chr12:122206400-122214200	Weak transcription	Gastric	stomach
13	chr12:122206400-122214600	Enhancers	Fetal Heart	heart
14	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:122206600-122216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:122206600-122216800	Weak transcription	Fetal Brain Female	brain
18	chr12:122206600-122219400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:122206600-122219400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:122206600-122219400	Weak transcription	Osteobl	bone
21	chr12:122206600-122219600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:122206600-122220000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
24	chr12:122206800-122216400	Weak transcription	Brain Germinal Matrix	brain
25	chr12:122208400-122214200	Weak transcription	Colonic Mucosa	Colon
26	chr12:122208400-122219600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122208800-122212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:122208800-122213800	Weak transcription	Fetal Brain Male	brain
29	chr12:122208800-122214000	Weak transcription	Right Atrium	heart
30	chr12:122209000-122212200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:122209200-122212600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:122209800-122212800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:122210600-122214600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:122210800-122211800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr12:122210800-122211800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:122210800-122211800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:122210800-122211800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:122210800-122211800	Enhancers	Liver	Liver
39	chr12:122210800-122211800	Enhancers	Colon Smooth Muscle	Colon
40	chr12:122210800-122211800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr12:122210800-122211800	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:122210800-122211800	Genic enhancers	HSMM	muscle
43	chr12:122210800-122212800	Enhancers	HSMMtube	muscle
44	chr12:122211000-122211800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:122211000-122211800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:122211000-122211800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:122211000-122211800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:122211000-122211800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:122211000-122211800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:122211000-122211800	Enhancers	Brain Cingulate Gyrus	brain

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