Variant report

Variant	rs2293580
Chromosome Location	chr11:47440283-47440284
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47439065..47440854-chr11:47490172..47492482,2	K562	blood:
2	chr11:47439354..47441139-chr11:47490982..47492763,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1057233	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10734557	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10742803	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769258	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10769262	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838698	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10838699	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10838704	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838706	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838708	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10838724	0.82[ASN][1000 genomes]
rs11039199	0.83[EUR][1000 genomes]
rs11039200	0.83[EUR][1000 genomes]
rs11039202	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11039203	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11039212	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11039219	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11039238	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039255	0.85[ASN][1000 genomes]
rs11039265	0.80[ASN][1000 genomes]
rs11570094	0.84[CEU][hapmap]
rs11600581	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11601603	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604680	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11605672	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11607981	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12146565	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12419692	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12798346	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12802273	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12803525	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1317149	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1317164	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1542321	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2053979	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2053980	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071304	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs2084946	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2856650	0.81[CEU][hapmap]
rs2868459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34958982	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs35184771	0.87[ASN][1000 genomes]
rs35496532	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35705029	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35996350	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3740686	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3781624	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781627	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752827	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4752832	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752838	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752845	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4752987	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4752990	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752993	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4752994	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4992357	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55677087	0.89[EUR][1000 genomes]
rs55876153	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55927797	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030824	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58965622	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60075622	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6485753	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6485756	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67116452	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67472071	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7105851	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7106956	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7107726	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111957	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7124681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs755553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs755554	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs755555	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7924485	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7925299	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7925389	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7928163	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7928419	0.81[EUR][1000 genomes]
rs7928842	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7937331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7940536	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs896815	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896816	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs935914	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2293580	SPI1	cis	multi-tissue	Pritchard
rs2293580	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs2293580	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs2293580		cis	Lymphoblastoid	GTEx
rs2293580	SPI1	cis	Lymphoblastoid	GTEx
rs2293580	Hs.6637	cis	multi-tissue	Pritchard
rs2293580	C1QTNF4	cis	multi-tissue	Pritchard
rs2293580	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47431000-47442000	Weak transcription	Primary B cells from cord blood	blood
2	chr11:47431200-47440600	Weak transcription	Small Intestine	intestine
3	chr11:47431200-47447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:47431400-47440400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:47431600-47440400	Weak transcription	Fetal Kidney	kidney
6	chr11:47431600-47446400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:47431800-47440400	Genic enhancers	Placenta	Placenta
8	chr11:47431800-47440800	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr11:47432200-47446400	Strong transcription	Thymus	Thymus
10	chr11:47432400-47440800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:47432400-47445800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:47432400-47446400	Weak transcription	Fetal Brain Male	brain
13	chr11:47432600-47445800	Strong transcription	Brain Anterior Caudate	brain
14	chr11:47432600-47446400	Strong transcription	Fetal Brain Female	brain
15	chr11:47432800-47446000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:47432800-47446200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:47432800-47446400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:47433200-47446200	Strong transcription	Fetal Thymus	thymus
19	chr11:47433400-47445800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:47434200-47445600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:47434800-47446000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47435000-47440600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:47435000-47440800	Genic enhancers	NHLF	lung
24	chr11:47435000-47446000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:47435000-47446200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:47435000-47446200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:47435000-47446600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:47435200-47445800	Strong transcription	Liver	Liver
29	chr11:47435200-47446000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:47435200-47446400	Strong transcription	Primary T cells from cord blood	blood
31	chr11:47436000-47441000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:47437400-47446400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47437800-47440400	Genic enhancers	HSMM	muscle
34	chr11:47437800-47446600	Strong transcription	Fetal Intestine Large	intestine
35	chr11:47438000-47445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:47438000-47446200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:47438000-47446200	Strong transcription	Fetal Intestine Small	intestine
38	chr11:47438200-47441600	Weak transcription	Stomach Mucosa	stomach
39	chr11:47438200-47444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:47438200-47446000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:47438200-47446000	Strong transcription	Adipose Nuclei	Adipose
42	chr11:47438200-47446200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:47438200-47446400	Weak transcription	Right Atrium	heart
44	chr11:47438200-47446600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:47438400-47445400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:47438400-47445800	Strong transcription	Fetal Stomach	stomach
47	chr11:47438400-47446000	Strong transcription	NHDF-Ad	bronchial
48	chr11:47438400-47446200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:47438600-47440600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:47438600-47446000	Strong transcription	Brain Cingulate Gyrus	brain

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