Variant report

Variant	rs12574721
Chromosome Location	chr11:108710483-108710484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10749924	0.82[ASN][1000 genomes]
rs10749925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212824	0.82[ASN][1000 genomes]
rs11828110	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12574567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12574758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12575278	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12577382	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577980	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12785398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12785439	0.90[ASN][1000 genomes]
rs12786616	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12793497	0.82[AMR][1000 genomes]
rs12794048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12794597	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12795663	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12796331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12800516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12800726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12801974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12802313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803616	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12808060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12808674	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365046	0.82[ASN][1000 genomes]
rs1365047	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs1365048	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1462787	0.93[ASN][1000 genomes]
rs1482268	0.82[ASN][1000 genomes]
rs17108571	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108579	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108608	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042677	0.82[ASN][1000 genomes]
rs2042678	0.81[ASN][1000 genomes]
rs2061681	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2553749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553751	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553754	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2553757	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2553758	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs2553760	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs2553761	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs2615727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2615756	0.94[CHB][hapmap];0.98[ASN][1000 genomes]
rs2726885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2726896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2726907	0.81[ASN][1000 genomes]
rs2726908	0.81[ASN][1000 genomes]
rs2726910	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726911	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726913	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726914	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726915	0.82[ASN][1000 genomes]
rs2726916	0.90[CHB][hapmap]
rs2726919	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2726920	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs28736339	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34138098	0.82[AMR][1000 genomes]
rs34180595	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34350110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34354308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363971	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34451436	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34593113	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34651663	0.81[AMR][1000 genomes]
rs34805458	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34848528	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34942750	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35085871	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35244070	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35430545	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35517426	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35525430	0.83[ASN][1000 genomes]
rs35754206	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35756735	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35777838	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36006135	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36034048	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36043878	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4317954	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57014838	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57484308	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7107825	0.81[ASN][1000 genomes]
rs71489913	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71489916	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71489918	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71489919	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71489922	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71489925	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489928	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71489929	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7930675	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs898972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs970164	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108680600-108724400	Weak transcription	Aorta	Aorta
2	chr11:108687000-108717000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:108701000-108724400	Weak transcription	NHEK	skin
4	chr11:108702800-108712000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:108703000-108712000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:108704400-108723000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:108706600-108711600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:108706600-108724400	Weak transcription	Small Intestine	intestine
9	chr11:108706800-108724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:108707000-108712000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:108707200-108714200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:108707200-108724400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:108707400-108712200	Weak transcription	Thymus	Thymus
14	chr11:108707400-108723200	Weak transcription	Psoas Muscle	Psoas
15	chr11:108707600-108740800	Weak transcription	HMEC	breast
16	chr11:108707800-108714000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:108707800-108723200	Weak transcription	Osteobl	bone
18	chr11:108707800-108723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:108707800-108723800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:108708000-108724000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:108708000-108724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:108708000-108724400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:108708000-108724600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:108708200-108712400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:108708200-108714000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:108708200-108717000	Weak transcription	NHDF-Ad	bronchial
27	chr11:108708200-108723600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:108708200-108723600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:108708200-108723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:108708200-108724400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:108708200-108724400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:108708200-108724600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:108708200-108729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:108708400-108717600	Weak transcription	Placenta	Placenta
35	chr11:108708400-108724200	Weak transcription	NH-A	brain
36	chr11:108708400-108724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:108708600-108714600	Weak transcription	HepG2	liver
38	chr11:108708600-108723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:108708600-108724800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:108709000-108710600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:108709000-108711000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:108709200-108710600	Strong transcription	K562	blood
43	chr11:108709200-108710800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:108709200-108711000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:108709200-108711000	Active TSS	Fetal Kidney	kidney
46	chr11:108709200-108711200	Strong transcription	Liver	Liver
47	chr11:108709200-108716200	Weak transcription	Right Ventricle	heart
48	chr11:108709400-108710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:108709400-108710600	Strong transcription	Left Ventricle	heart
50	chr11:108709400-108711000	Strong transcription	GM12878-XiMat	blood

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