Variant report

Variant	rs2403229
Chromosome Location	chr11:9987251-9987252
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10500715	0.93[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs10500717	0.80[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs10743123	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770077	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770078	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770079	0.80[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap]
rs10840327	0.86[CEU][hapmap]
rs10840330	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840333	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840334	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840337	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs10840338	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs10840347	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs10840348	0.80[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs10840359	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10840361	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs10840362	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs10840370	0.80[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap]
rs11042543	0.81[CEU][hapmap]
rs11042558	0.89[ASN][1000 genomes]
rs11042559	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs11042561	0.91[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs11042571	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs11042573	0.84[EUR][1000 genomes]
rs11042574	0.81[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs11042578	0.90[EUR][1000 genomes]
rs11042579	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs11042580	0.88[EUR][1000 genomes]
rs11042589	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs11042590	0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap]
rs11042591	0.87[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap]
rs11042595	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs11042601	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs11042604	0.80[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs11042605	0.80[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs11042609	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs11042613	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs11042615	0.86[CEU][hapmap]
rs11042618	0.85[CEU][hapmap]
rs11042623	0.84[CEU][hapmap]
rs11042624	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs11042632	0.89[CEU][hapmap]
rs11042639	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs11042641	0.80[CEU][hapmap]
rs11042645	0.88[JPT][hapmap]
rs11530489	0.86[YRI][hapmap]
rs11600251	0.86[CEU][hapmap]
rs11602465	0.87[EUR][1000 genomes]
rs11602515	0.86[CEU][hapmap]
rs11603440	0.88[EUR][1000 genomes]
rs11606561	0.86[CEU][hapmap]
rs12222953	0.87[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs12283105	0.88[JPT][hapmap];0.91[YRI][hapmap]
rs12290996	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360783	0.85[CEU][hapmap]
rs12364676	0.80[EUR][1000 genomes]
rs12417184	0.88[CEU][hapmap]
rs12419923	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs12420734	0.88[CEU][hapmap]
rs12420950	0.85[EUR][1000 genomes]
rs12421096	0.85[CEU][hapmap]
rs12421200	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs12575719	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs1372807	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs1442732	0.80[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs16907368	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs16907396	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs17271847	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs17356792	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs17359113	0.86[CEU][hapmap]
rs2403226	0.93[CHB][hapmap];0.88[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2403227	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4478985	0.81[EUR][1000 genomes]
rs4529876	0.83[EUR][1000 genomes]
rs4576815	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625455	0.95[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4909915	0.86[CEU][hapmap]
rs4909917	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910080	0.82[CEU][hapmap]
rs4910081	0.86[CEU][hapmap]
rs4910086	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58084362	0.91[ASN][1000 genomes]
rs60362241	0.91[ASN][1000 genomes]
rs7106914	0.93[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs7114044	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7114303	0.95[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs7123453	0.85[CEU][hapmap]
rs7131445	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs7928959	0.86[CEU][hapmap]
rs7933475	0.99[ASN][1000 genomes]
rs7938491	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs7938502	0.86[CEU][hapmap]
rs7938647	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs7938788	0.95[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs7946995	0.84[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs7950447	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs7951950	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv1819684	chr11:9973062-10012511	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9952800-9995200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9973800-10010600	Weak transcription	Fetal Brain Male	brain
3	chr11:9974200-9994400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:9974200-9994600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:9974200-9994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:9974200-9999000	Weak transcription	Fetal Heart	heart
7	chr11:9974200-9999000	Weak transcription	HSMMtube	muscle
8	chr11:9977000-9994400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:9979400-9995000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:9979600-9994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:9979800-9987400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:9979800-9999200	Weak transcription	NH-A	brain
13	chr11:9981000-10020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:9981200-9988400	Weak transcription	HMEC	breast
15	chr11:9981200-9990000	Weak transcription	A549	lung
16	chr11:9981200-9990600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:9981200-9995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:9981200-10004200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:9981200-10009200	Weak transcription	Brain Germinal Matrix	brain
20	chr11:9981400-9989000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:9981400-9989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:9981400-9989600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:9981400-9990600	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:9981400-9990600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:9981400-9992200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:9981400-9993400	Weak transcription	Spleen	Spleen
27	chr11:9981400-9994400	Weak transcription	HUVEC	blood vessel
28	chr11:9981400-9994600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:9981400-9994600	Weak transcription	NHLF	lung
30	chr11:9981400-9994800	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:9981400-9995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:9981400-9995200	Weak transcription	Brain Angular Gyrus	brain
33	chr11:9981400-9995400	Weak transcription	Right Ventricle	heart
34	chr11:9981400-9999000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:9981400-10002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:9981400-10003400	Weak transcription	Brain Anterior Caudate	brain
37	chr11:9981400-10003400	Weak transcription	NHEK	skin
38	chr11:9981400-10003600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:9981400-10004200	Weak transcription	Esophagus	oesophagus
40	chr11:9981400-10004200	Weak transcription	Lung	lung
41	chr11:9981400-10004400	Weak transcription	HepG2	liver
42	chr11:9981400-10008800	Weak transcription	Primary T cells from cord blood	blood
43	chr11:9981400-10010200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:9981400-10014800	Weak transcription	Dnd41	blood
45	chr11:9981400-10017000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
47	chr11:9981600-10003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:9981800-9993600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:9981800-9995200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:9981800-10003400	Weak transcription	Brain Inferior Temporal Lobe	brain

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