Variant report

Variant	rs2357324
Chromosome Location	chr11:108782708-108782709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1035724	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10502105	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890907	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212765	0.82[ASW][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap]
rs11212770	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs11212815	1.00[ASW][hapmap];0.93[CHB][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11212820	0.89[ASN][1000 genomes]
rs11212821	0.89[ASN][1000 genomes]
rs11212822	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12794068	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1975910	0.82[ASW][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap]
rs1975911	0.82[ASW][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap]
rs2059540	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2128244	0.82[ASW][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap]
rs2162158	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2466927	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2466928	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2466930	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2466939	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2466940	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2514118	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514120	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553748	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553755	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553762	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553765	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap]
rs2553766	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553767	0.94[EUR][1000 genomes]
rs2615716	0.80[ASN][1000 genomes]
rs2615717	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2615718	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs2615728	0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2615729	0.83[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2615731	0.81[CHB][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap]
rs2615732	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2615736	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2615741	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2615752	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2615755	0.82[ASW][hapmap];0.93[CHB][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2615760	0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.82[ASN][1000 genomes]
rs2615761	0.82[ASN][1000 genomes]
rs2624128	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2624139	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2624149	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2726869	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2726871	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2726875	0.93[CHB][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.82[ASN][1000 genomes]
rs2726883	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs2726888	0.93[CHB][hapmap];0.84[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap]
rs2726893	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2726894	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2726895	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2726899	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2726901	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2726902	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2726903	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2726904	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2726912	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2726923	1.00[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs35273823	0.92[EUR][1000 genomes]
rs3781865	0.82[ASW][hapmap];0.93[CHB][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap]
rs4027412	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4754352	0.82[ASW][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap]
rs4754361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4754362	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754364	0.89[ASN][1000 genomes]
rs7112835	0.89[ASN][1000 genomes]
rs7113892	0.93[CHB][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.89[ASN][1000 genomes]
rs7130411	0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.90[ASN][1000 genomes]
rs919038	1.00[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2357324	KBTBD3	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:108769000-108791200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:108769200-108788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:108769800-108789600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:108775000-108794400	Weak transcription	Aorta	Aorta
8	chr11:108777200-108783800	Weak transcription	Right Atrium	heart
9	chr11:108777200-108797000	Weak transcription	Psoas Muscle	Psoas
10	chr11:108777800-108782800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:108777800-108783000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:108777800-108783000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:108777800-108786800	Weak transcription	NHEK	skin
14	chr11:108778000-108782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:108778000-108782800	Weak transcription	NH-A	brain
16	chr11:108778000-108785000	Weak transcription	A549	lung
17	chr11:108778000-108785200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:108778000-108786800	Weak transcription	NHDF-Ad	bronchial
19	chr11:108778000-108799600	Weak transcription	HMEC	breast
20	chr11:108778200-108783000	Weak transcription	Osteobl	bone
21	chr11:108778200-108783200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:108778200-108810600	Weak transcription	Ovary	ovary
23	chr11:108778400-108783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:108778400-108783200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:108778400-108783400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:108778600-108783200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:108778600-108784000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:108778600-108785800	Weak transcription	NHLF	lung
29	chr11:108779600-108783400	Enhancers	Fetal Thymus	thymus
30	chr11:108779600-108783400	Enhancers	Thymus	Thymus
31	chr11:108779800-108783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:108780000-108783200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:108780000-108784000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:108780600-108785600	Weak transcription	Hela-S3	cervix
35	chr11:108780600-108810600	Weak transcription	Pancreas	Pancrea
36	chr11:108780800-108790000	Weak transcription	Dnd41	blood
37	chr11:108781400-108787800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:108781600-108810400	Weak transcription	GM12878-XiMat	blood
39	chr11:108781800-108782800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:108781800-108783600	Weak transcription	Fetal Heart	heart
41	chr11:108781800-108793200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:108782000-108783200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:108782200-108792000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:108782600-108783800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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