Variant report

Variant	rs2286053
Chromosome Location	chr14:71196427-71196428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71192214..71195072-chr14:71196372..71198780,2	K562	blood:
2	chr14:71188747..71190799-chr14:71193873..71196833,2	MCF-7	breast:
3	chr14:71195704..71197706-chr14:71200302..71202313,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12586336	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs12586825	1.00[ASN][1000 genomes]
rs12586828	1.00[ASN][1000 genomes]
rs12586899	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.89[ASN][1000 genomes]
rs12590049	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs12590343	0.82[ASN][1000 genomes]
rs17108442	0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[ASN][1000 genomes]
rs17108473	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108546	0.84[CHB][hapmap]
rs17177097	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs2051857	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2269946	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286052	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55634875	0.89[ASN][1000 genomes]
rs55724921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55725720	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55727545	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55897184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55910358	1.00[ASN][1000 genomes]
rs55941560	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55972082	0.87[EUR][1000 genomes]
rs56801523	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57221433	0.83[ASN][1000 genomes]
rs9972195	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71180600-71196800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:71180600-71196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71180800-71200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:71185400-71198800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:71185800-71196600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:71185800-71198600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
8	chr14:71186000-71196600	Weak transcription	Gastric	stomach
9	chr14:71186000-71196600	Weak transcription	Lung	lung
10	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
12	chr14:71188000-71196800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:71188600-71198600	Weak transcription	Liver	Liver
14	chr14:71188800-71198400	Strong transcription	HMEC	breast
15	chr14:71189800-71209400	Strong transcription	Fetal Brain Female	brain
16	chr14:71190000-71214400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:71191400-71220000	Weak transcription	Fetal Brain Male	brain
18	chr14:71191600-71220200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:71191800-71198600	Weak transcription	HepG2	liver
20	chr14:71192200-71198000	Strong transcription	NHEK	skin
21	chr14:71192400-71220200	Weak transcription	Fetal Kidney	kidney
22	chr14:71192600-71196600	Weak transcription	Dnd41	blood
23	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:71193400-71211400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:71193600-71199400	Strong transcription	A549	lung
26	chr14:71193600-71210200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:71193800-71209400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:71193800-71209400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:71194000-71208400	Weak transcription	Brain Substantia Nigra	brain
30	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
31	chr14:71194200-71198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:71194200-71209600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:71194400-71197200	Weak transcription	Spleen	Spleen
34	chr14:71194400-71201800	Weak transcription	Right Atrium	heart
35	chr14:71194400-71210400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:71194400-71213400	Weak transcription	Psoas Muscle	Psoas
37	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
38	chr14:71194600-71196600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:71194600-71196600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:71194600-71198000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:71194600-71198600	Weak transcription	Right Ventricle	heart
42	chr14:71194600-71198600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:71194600-71218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:71194800-71196600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:71194800-71199400	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:71195000-71197000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:71195000-71198800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:71195200-71198400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:71195400-71197800	Strong transcription	Esophagus	oesophagus

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