Variant report

Variant	rs7294817
Chromosome Location	chr12:122194732-122194733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122192772..122195093-chr12:122197272..122199194,2	MCF-7	breast:
2	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
3	chr12:122185565..122190641-chr12:122191748..122195885,9	MCF-7	breast:
4	chr12:122193178..122194758-chr12:122236438..122238242,2	K562	blood:
5	chr12:122192032..122196057-chr12:122196899..122200786,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1107243	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs28656299	0.94[EUR][1000 genomes]
rs3970421	1.00[EUR][1000 genomes]
rs55775605	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56379201	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56959328	0.94[EUR][1000 genomes]
rs57318156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57611711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58274150	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58534280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58986108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61230721	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486775	0.83[EUR][1000 genomes]
rs7310523	0.83[EUR][1000 genomes]
rs7313408	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411779	0.94[EUR][1000 genomes]
rs73411780	0.94[EUR][1000 genomes]
rs73411782	0.94[EUR][1000 genomes]
rs73411785	0.94[EUR][1000 genomes]
rs73411786	1.00[EUR][1000 genomes]
rs7957751	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962125	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962350	0.84[LWK][hapmap]
rs7965407	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968717	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978536	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7980551	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9737587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9739927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7294817	RHOF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
3	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
6	chr12:122184800-122208000	Weak transcription	Colonic Mucosa	Colon
7	chr12:122186200-122197400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:122186600-122200400	Weak transcription	Right Atrium	heart
9	chr12:122186800-122197200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:122187000-122195200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:122187000-122199600	Strong transcription	Fetal Stomach	stomach
12	chr12:122187000-122207600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:122187000-122208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:122187200-122203400	Weak transcription	Hela-S3	cervix
15	chr12:122187200-122205600	Weak transcription	Fetal Lung	lung
16	chr12:122187400-122198000	Strong transcription	Fetal Intestine Small	intestine
17	chr12:122187400-122200200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:122187400-122203400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:122188400-122195800	Weak transcription	Primary T cells from cord blood	blood
22	chr12:122188400-122203400	Weak transcription	Osteobl	bone
23	chr12:122188400-122205600	Weak transcription	Aorta	Aorta
24	chr12:122188400-122207400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:122188600-122199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:122188800-122197600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:122188800-122203400	Weak transcription	HSMM	muscle
28	chr12:122188800-122205600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:122188800-122205600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:122189200-122210800	Weak transcription	GM12878-XiMat	blood
31	chr12:122189200-122211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:122189400-122202800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:122189400-122203400	Weak transcription	K562	blood
34	chr12:122190000-122197200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:122190200-122200200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:122190200-122203200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:122190200-122203600	Weak transcription	Ovary	ovary
38	chr12:122190200-122205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:122190400-122200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:122190400-122203400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:122190400-122217000	Weak transcription	Esophagus	oesophagus
42	chr12:122190600-122200200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:122190800-122201600	Weak transcription	A549	lung
44	chr12:122190800-122203400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:122190800-122203800	Weak transcription	HepG2	liver
46	chr12:122191200-122199400	Weak transcription	Placenta	Placenta
47	chr12:122191200-122201600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:122191200-122203400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:122191800-122195000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:122192000-122196200	Weak transcription	Gastric	stomach

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