Variant report

Variant	rs11043194
Chromosome Location	chr12:122212375-122212376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr12:122212184-122213324	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr12:122212367-122214540	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:122212360-122212460	K562	blood:	n/a	n/a
4	POLR2A	chr12:122212217-122216079	A549	lung:	n/a	n/a
5	POLR2A	chr12:122212314-122212479	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr12:122212282-122213934	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr12:122212259-122212567	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122186493..122188379-chr12:122211134..122213755,2	K562	blood:
2	chr12:122139766..122142322-chr12:122210806..122212590,2	MCF-7	breast:
3	chr12:122209495..122213691-chr12:122231244..122236279,5	K562	blood:
4	chr12:122203162..122205076-chr12:122211295..122213283,2	K562	blood:
5	chr12:122154851..122156894-chr12:122210970..122213688,2	MCF-7	breast:
6	chr12:122191495..122194594-chr12:122209584..122212747,5	MCF-7	breast:
7	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
8	chr12:122212254..122213915-chr12:122326858..122328726,2	K562	blood:
9	chr12:122202494..122205546-chr12:122209395..122213283,3	K562	blood:

No data

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

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1052202	1.00[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs1064169	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs11043192	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11043193	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11043195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043196	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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]
rs55695154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796201	0.95[ASN][1000 genomes]
rs56012262	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413708	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73413711	0.90[EUR][1000 genomes]
rs73413713	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73413716	0.91[EUR][1000 genomes]
rs73413717	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73413720	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.80[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
rs11043194	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	chr12:122206400-122214200	Weak transcription	Gastric	stomach
12	chr12:122206400-122214600	Enhancers	Fetal Heart	heart
13	chr12:122206400-122228200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:122206600-122216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:122206600-122216800	Weak transcription	Fetal Brain Female	brain
17	chr12:122206600-122219400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:122206600-122219400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:122206600-122219400	Weak transcription	Osteobl	bone
20	chr12:122206600-122219600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:122206600-122220000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:122206600-122226400	Weak transcription	Aorta	Aorta
23	chr12:122206800-122216400	Weak transcription	Brain Germinal Matrix	brain
24	chr12:122208400-122214200	Weak transcription	Colonic Mucosa	Colon
25	chr12:122208400-122219600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:122208800-122212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:122208800-122213800	Weak transcription	Fetal Brain Male	brain
28	chr12:122208800-122214000	Weak transcription	Right Atrium	heart
29	chr12:122209200-122212600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:122209800-122212800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:122210600-122214600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:122210800-122212800	Enhancers	HSMMtube	muscle
33	chr12:122211000-122213800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:122211000-122214200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:122211000-122214200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr12:122211000-122214200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:122211000-122214600	Genic enhancers	Fetal Muscle Leg	muscle
38	chr12:122211200-122212600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:122211200-122214000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:122211200-122214200	Weak transcription	HepG2	liver
41	chr12:122211200-122217000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:122211400-122212400	Weak transcription	NHLF	lung
43	chr12:122211400-122213800	Weak transcription	Placenta	Placenta
44	chr12:122211400-122214000	Weak transcription	Spleen	Spleen
45	chr12:122211400-122214200	Weak transcription	Left Ventricle	heart
46	chr12:122211400-122214200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:122211400-122218200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:122211400-122219400	Weak transcription	K562	blood
49	chr12:122211600-122212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:122211600-122212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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