Variant report

Variant	rs11054413
Chromosome Location	chr12:11830873-11830874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11826428..11828100-chr12:11830041..11832923,3	K562	blood:
2	chr12:11829531..11831196-chr12:11831568..11835696,3	MCF-7	breast:
3	chr12:11826577..11828100-chr12:11830041..11832923,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10491985	1.00[MEX][hapmap]
rs16907021	1.00[ASW][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap]
rs1861482	0.82[CHB][hapmap];0.96[CHD][hapmap]
rs205542	0.85[GIH][hapmap];1.00[MEX][hapmap]
rs2111048	0.90[CHB][hapmap];0.96[CHD][hapmap]
rs2111049	0.82[CHB][hapmap];0.96[CHD][hapmap]
rs2466582	0.95[ASN][1000 genomes]
rs2541113	0.90[CHB][hapmap];0.96[CHD][hapmap]
rs2541122	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2541124	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2541127	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2541128	0.82[CHB][hapmap];0.96[CHD][hapmap]
rs2541129	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2724590	0.82[CHB][hapmap];0.96[CHD][hapmap]
rs2724605	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2724626	0.82[CHB][hapmap]
rs2724649	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856303	0.90[CHB][hapmap];1.00[CHD][hapmap]
rs2856308	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856309	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856310	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856311	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856313	0.82[CHB][hapmap];0.93[CHD][hapmap]
rs2856316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2908839	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3020922	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74062381	0.86[EUR][1000 genomes]
rs759485	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs918074	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs928949	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs956753	1.00[MEX][hapmap]

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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11832600	Weak transcription	A549	lung
2	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:11815000-11836800	Weak transcription	NHEK	skin
4	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
6	chr12:11815200-11837800	Weak transcription	NH-A	brain
7	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:11822000-11850000	Weak transcription	HMEC	breast
9	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:11824800-11831200	Enhancers	Brain Hippocampus Middle	brain
11	chr12:11826000-11837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:11826000-11837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:11826000-11838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:11826200-11831000	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:11826200-11838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:11826200-11839200	Weak transcription	HepG2	liver
18	chr12:11827200-11833200	Enhancers	Colon Smooth Muscle	Colon
19	chr12:11827400-11831000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:11827400-11831400	Weak transcription	Stomach Mucosa	stomach
21	chr12:11827400-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:11827600-11832200	Weak transcription	HSMMtube	muscle
24	chr12:11827800-11851800	Weak transcription	Ovary	ovary
25	chr12:11828000-11833800	Weak transcription	HSMM	muscle
26	chr12:11828000-11834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:11828000-11836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:11828000-11837800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:11828600-11831200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:11828600-11832600	Strong transcription	Primary B cells from cord blood	blood
31	chr12:11828600-11833600	Enhancers	Fetal Heart	heart
32	chr12:11828800-11831400	Enhancers	Fetal Brain Male	brain
33	chr12:11828800-11831600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:11828800-11832400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:11828800-11836600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:11829000-11831000	Enhancers	Brain Angular Gyrus	brain
37	chr12:11829000-11831000	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:11829000-11832000	Strong transcription	Dnd41	blood
39	chr12:11829000-11834200	Genic enhancers	Fetal Thymus	thymus
40	chr12:11829200-11837800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:11829400-11833400	Weak transcription	Osteobl	bone
42	chr12:11829400-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:11829400-11837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:11829400-11840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:11829400-11840600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:11829400-11845000	Weak transcription	Psoas Muscle	Psoas
47	chr12:11829600-11831000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:11829600-11831000	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:11829600-11831000	Weak transcription	Pancreas	Pancrea
50	chr12:11829600-11831000	Weak transcription	Small Intestine	intestine

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