Variant report

Variant	rs2118312
Chromosome Location	chr12:104257138-104257139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104252726..104255857-chr12:104256920..104259686,3	MCF-7	breast:
2	chr12:104256917..104259122-chr12:104264989..104267074,2	MCF-7	breast:
3	chr12:104233269..104235056-chr12:104256558..104259181,2	K562	blood:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10778305	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs1165593	0.84[ASN][1000 genomes]
rs1165668	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1165669	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs1165670	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs1165675	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12812668	0.87[ASN][1000 genomes]
rs12815289	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12816512	0.93[ASN][1000 genomes]
rs12816861	0.93[ASN][1000 genomes]
rs12822228	0.93[ASN][1000 genomes]
rs12822539	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs1370411	0.89[ASN][1000 genomes]
rs1370413	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs1370775	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs17034734	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1866071	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs1992207	0.88[ASN][1000 genomes]
rs1992208	0.90[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs2252325	0.95[ASN][1000 genomes]
rs2252327	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2255296	0.92[ASN][1000 genomes]
rs2255303	0.86[ASN][1000 genomes]
rs2255315	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2255316	0.93[ASN][1000 genomes]
rs2255324	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2255568	0.93[ASN][1000 genomes]
rs2255584	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2255791	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2255794	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs2255795	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs2255797	0.95[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs2255799	0.89[ASN][1000 genomes]
rs2255807	0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs2256160	0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs2256303	0.91[ASN][1000 genomes]
rs2438111	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2438112	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs2438113	0.91[ASN][1000 genomes]
rs2438114	0.90[ASN][1000 genomes]
rs2438388	0.89[ASN][1000 genomes]
rs2576954	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2578010	0.87[ASN][1000 genomes]
rs35015549	0.87[ASN][1000 genomes]
rs4453308	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs4453309	0.89[ASN][1000 genomes]
rs4964302	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4964304	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs71466281	0.90[ASN][1000 genomes]
rs71466282	0.90[ASN][1000 genomes]
rs71466283	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7973043	0.93[ASN][1000 genomes]
rs7973278	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7973401	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2118312	FHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104250000-104263800	Weak transcription	Liver	Liver
2	chr12:104253600-104261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:104254000-104258600	Weak transcription	HSMMtube	muscle
4	chr12:104254400-104257600	Weak transcription	Esophagus	oesophagus
5	chr12:104254400-104257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:104254400-104258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:104254400-104258000	Weak transcription	NHEK	skin
8	chr12:104254400-104258600	Weak transcription	HSMM	muscle
9	chr12:104254400-104258800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
11	chr12:104255000-104257800	Weak transcription	HMEC	breast
12	chr12:104255000-104259200	Weak transcription	Osteobl	bone
13	chr12:104255200-104257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:104255600-104258000	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:104255600-104262200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:104255800-104257200	Weak transcription	Placenta	Placenta
17	chr12:104256000-104257200	Enhancers	Colon Smooth Muscle	Colon
18	chr12:104256200-104257800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:104256600-104257400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:104256800-104257200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:104256800-104257600	Enhancers	Ovary	ovary
22	chr12:104256800-104258200	Enhancers	Stomach Smooth Muscle	stomach
23	chr12:104257000-104257400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:104257000-104258000	Enhancers	Pancreas	Pancrea
25	chr12:104257000-104259200	Enhancers	HepG2	liver

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