Variant report

Variant	rs1055447
Chromosome Location	chr11:47186424-47186425
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47179475..47181210-chr11:47184967..47187078,2	MCF-7	breast:
2	chr11:47185316..47187006-chr17:58634417..58637411,2	MCF-7	breast:
3	chr11:47182976..47185487-chr11:47185518..47189747,4	MCF-7	breast:
4	chr11:47176348..47178224-chr11:47185293..47188253,2	K562	blood:

Variant related genes	Relation type
ENSG00000149179	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10466478	0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1060573	0.86[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs10769233	0.86[ASN][1000 genomes]
rs10769234	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10769239	0.90[ASN][1000 genomes]
rs10838654	0.89[ASN][1000 genomes]
rs10838659	0.94[ASN][1000 genomes]
rs10838660	0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs10838664	0.84[GIH][hapmap]
rs11039074	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs11039086	0.90[ASN][1000 genomes]
rs11039097	0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11039105	0.86[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs11039107	0.94[ASN][1000 genomes]
rs11039112	0.86[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs11039119	0.83[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs11039124	0.87[ASN][1000 genomes]
rs11039134	0.83[ASN][1000 genomes]
rs11600668	0.83[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs12224096	0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs12291341	0.84[ASN][1000 genomes]
rs12796744	0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs12807887	0.87[ASN][1000 genomes]
rs1872896	0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1965952	0.94[ASN][1000 genomes]
rs1976142	0.83[ASN][1000 genomes]
rs1976143	0.84[ASN][1000 genomes]
rs2018527	0.94[ASN][1000 genomes]
rs2029298	0.80[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs2279439	0.84[GIH][hapmap]
rs4237547	0.84[ASN][1000 genomes]
rs4319472	0.91[ASN][1000 genomes]
rs4567413	0.80[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs4579897	0.87[ASN][1000 genomes]
rs4752952	0.87[ASN][1000 genomes]
rs4752957	0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4752962	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4752963	0.92[ASN][1000 genomes]
rs4752967	0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4752971	0.87[ASN][1000 genomes]
rs57323109	0.90[ASN][1000 genomes]
rs6485721	0.81[ASN][1000 genomes]
rs6485739	0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7103581	0.81[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7108902	0.81[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7111764	0.84[ASN][1000 genomes]
rs7119952	0.86[ASN][1000 genomes]
rs7121418	0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7125807	0.81[GIH][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7128325	0.81[ASN][1000 genomes]
rs7130006	0.81[GIH][hapmap]
rs747650	0.85[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7479189	0.84[ASN][1000 genomes]
rs7931260	0.81[GIH][hapmap];0.94[JPT][hapmap]
rs7937101	0.80[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs7937410	0.84[GIH][hapmap]
rs7937950	0.89[ASN][1000 genomes]
rs7940240	0.84[GIH][hapmap]
rs7942473	0.91[ASN][1000 genomes]
rs7945315	0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7946709	0.81[GIH][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs9633886	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1055447	OR4C12	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47165400-47188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:47175200-47188600	Weak transcription	Fetal Heart	heart
3	chr11:47175400-47186600	Weak transcription	Fetal Kidney	kidney
4	chr11:47175400-47197600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:47176000-47196600	Strong transcription	Fetal Intestine Small	intestine
6	chr11:47176200-47187800	Weak transcription	NHDF-Ad	bronchial
7	chr11:47176600-47188600	Weak transcription	Fetal Brain Male	brain
8	chr11:47176800-47193000	Strong transcription	Fetal Brain Female	brain
9	chr11:47176800-47196600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:47177400-47187000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:47178000-47197000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:47178200-47194000	Strong transcription	Dnd41	blood
13	chr11:47178800-47196800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:47180600-47196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:47180800-47188600	Weak transcription	K562	blood
16	chr11:47181400-47197000	Weak transcription	Right Atrium	heart
17	chr11:47182000-47196400	Strong transcription	Hela-S3	cervix
18	chr11:47182200-47193400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:47182200-47194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:47182200-47197000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:47182400-47187200	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr11:47182400-47196400	Strong transcription	Fetal Intestine Large	intestine
23	chr11:47183200-47186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:47183200-47194000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr11:47183200-47197000	Strong transcription	Placenta	Placenta
26	chr11:47183200-47197200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:47183400-47186600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:47183400-47190400	Strong transcription	Brain Hippocampus Middle	brain
29	chr11:47183400-47190600	Strong transcription	Gastric	stomach
30	chr11:47183400-47192600	Strong transcription	Primary T cells from cord blood	blood
31	chr11:47183400-47192800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:47183400-47193000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:47183400-47193200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:47183400-47193800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:47183400-47194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:47183400-47194600	Strong transcription	Colonic Mucosa	Colon
37	chr11:47183400-47196600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:47183400-47197000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:47183400-47197000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:47183400-47197000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:47183600-47192000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr11:47183600-47192800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:47183600-47193000	Strong transcription	Brain Substantia Nigra	brain
44	chr11:47183600-47193800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:47183600-47194200	Strong transcription	Fetal Thymus	thymus
46	chr11:47183600-47196400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47183600-47196600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:47183600-47197000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:47183600-47197000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:47183800-47196800	Strong transcription	NHLF	lung

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