Variant report

Variant	rs12086760
Chromosome Location	chr1:220406054-220406055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220403099..220406087-chr1:220921390..220923561,2	MCF-7	breast:
2	chr1:220405526..220409117-chr1:220409485..220413749,4	K562	blood:
3	chr1:220398979..220400909-chr1:220405433..220407745,2	K562	blood:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10127631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779401	0.93[EUR][1000 genomes]
rs10863539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863540	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118506	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118510	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118513	0.93[EUR][1000 genomes]
rs11586671	0.93[EUR][1000 genomes]
rs12022336	0.91[ASN][1000 genomes]
rs12025326	0.91[ASN][1000 genomes]
rs12025702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12026270	0.91[ASN][1000 genomes]
rs12030504	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031256	0.82[ASN][1000 genomes]
rs12032536	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12032738	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12033612	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12037712	1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12039349	0.91[ASN][1000 genomes]
rs12040095	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043920	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12045447	0.82[ASN][1000 genomes]
rs12086105	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007139	0.87[GIH][hapmap]
rs28650887	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820455	0.87[GIH][hapmap]
rs56357312	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6690426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703091	0.93[EUR][1000 genomes]
rs73087829	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095623	0.93[EUR][1000 genomes]
rs73095636	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73098540	0.82[ASN][1000 genomes]
rs73098550	0.82[ASN][1000 genomes]
rs73098551	0.82[ASN][1000 genomes]
rs73098553	0.82[ASN][1000 genomes]
rs73098567	0.82[ASN][1000 genomes]
rs73098569	0.91[ASN][1000 genomes]
rs73098579	0.91[ASN][1000 genomes]
rs874331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[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	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220374600-220407600	Weak transcription	Fetal Brain Male	brain
2	chr1:220379000-220418200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:220379200-220409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:220379200-220410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:220384200-220408800	Weak transcription	A549	lung
8	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
9	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
10	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:220384400-220413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:220384800-220408000	Weak transcription	Hela-S3	cervix
13	chr1:220384800-220417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:220385400-220409000	Weak transcription	NH-A	brain
15	chr1:220385400-220419400	Weak transcription	HUVEC	blood vessel
16	chr1:220385600-220408000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
18	chr1:220393200-220408800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:220393200-220413400	Weak transcription	Fetal Heart	heart
20	chr1:220393400-220411400	Weak transcription	Fetal Brain Female	brain
21	chr1:220393800-220425800	Weak transcription	Gastric	stomach
22	chr1:220394000-220422600	Weak transcription	Thymus	Thymus
23	chr1:220394400-220407800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:220398200-220406200	Strong transcription	Primary T cells from cord blood	blood
25	chr1:220398200-220406400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:220398400-220420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:220398600-220406400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:220398800-220407000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:220399000-220406200	Strong transcription	Primary B cells from cord blood	blood
30	chr1:220399000-220406800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:220399000-220407400	Weak transcription	Small Intestine	intestine
32	chr1:220399000-220418400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:220399200-220406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:220399200-220414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:220399400-220408200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:220399600-220414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:220400000-220406200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:220400200-220406200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:220400200-220406200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:220400400-220423000	Weak transcription	Pancreas	Pancrea
41	chr1:220400600-220407600	Weak transcription	Adipose Nuclei	Adipose
42	chr1:220400600-220409600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:220400600-220415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:220400600-220422200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:220400800-220406200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:220400800-220408200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:220400800-220422200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:220401000-220409000	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:220401000-220425200	Weak transcription	Right Ventricle	heart
50	chr1:220401200-220418200	Weak transcription	Spleen	Spleen

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