Variant report

Variant	rs2118313
Chromosome Location	chr12:104257099-104257100
allele	A/C
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: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1000295	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs10745982	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10745983	0.83[ASN][1000 genomes]
rs10745987	0.90[JPT][hapmap]
rs10745988	0.91[JPT][hapmap]
rs10778291	0.81[ASN][1000 genomes]
rs10778293	0.95[JPT][hapmap]
rs10778294	0.83[ASN][1000 genomes]
rs10778298	0.91[JPT][hapmap]
rs10778300	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10778301	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10861124	0.85[CEU][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs10861126	0.82[ASN][1000 genomes]
rs10861128	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10861129	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10861134	0.91[JPT][hapmap]
rs10861137	0.91[JPT][hapmap]
rs10861138	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861139	0.91[JPT][hapmap]
rs10861141	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11111822	1.00[CEU][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11111828	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11111832	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1165596	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1165597	0.80[ASN][1000 genomes]
rs1165598	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1185985	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12312978	0.81[ASN][1000 genomes]
rs12368121	0.85[CEU][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs12368164	0.85[EUR][1000 genomes]
rs1583599	0.83[ASN][1000 genomes]
rs1595338	0.84[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1595339	0.91[JPT][hapmap]
rs2196614	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2248382	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2374350	0.82[ASN][1000 genomes]
rs2374351	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2374352	0.84[ASN][1000 genomes]
rs2374353	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2576950	0.82[ASN][1000 genomes]
rs2576957	0.90[JPT][hapmap]
rs2576961	0.91[JPT][hapmap]
rs2576962	0.91[JPT][hapmap]
rs2576963	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2576964	0.81[ASN][1000 genomes]
rs2576965	0.81[ASN][1000 genomes]
rs2576970	0.91[JPT][hapmap]
rs2583236	0.89[JPT][hapmap]
rs2583240	0.81[ASN][1000 genomes]
rs2583241	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2583242	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2583245	0.91[JPT][hapmap]
rs2583246	0.91[JPT][hapmap]
rs2583247	0.91[JPT][hapmap]
rs2583248	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2888809	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2888810	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs3850016	0.91[JPT][hapmap]
rs3850017	0.91[JPT][hapmap]
rs3850019	0.89[JPT][hapmap]
rs3887987	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4316574	0.83[ASN][1000 genomes]
rs4488278	0.83[ASN][1000 genomes]
rs4491322	0.91[JPT][hapmap]
rs4556622	0.84[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4964118	0.91[JPT][hapmap]
rs56205268	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136272	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7136297	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7138145	0.91[JPT][hapmap]
rs7138345	0.91[JPT][hapmap]
rs728165	0.91[JPT][hapmap]
rs728166	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs7294443	0.82[ASN][1000 genomes]
rs7295172	0.82[ASN][1000 genomes]
rs7295268	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7295285	0.82[ASN][1000 genomes]
rs7295499	0.82[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7298655	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7299349	0.83[JPT][hapmap]
rs7301439	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7310988	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7311473	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7312936	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7314790	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7315838	0.83[EUR][1000 genomes]
rs73175882	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7488952	0.84[ASN][1000 genomes]
rs7964542	0.82[ASN][1000 genomes]
rs7964654	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7967501	0.81[ASN][1000 genomes]
rs7967862	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7971440	0.81[EUR][1000 genomes]
rs878125	0.91[JPT][hapmap]
rs9888379	0.82[ASN][1000 genomes]
rs9943761	0.91[JPT][hapmap]
rs9943762	0.91[JPT][hapmap]
rs9943844	0.86[JPT][hapmap]
rs9988931	0.91[JPT][hapmap];0.82[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

No data

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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