Variant report

Variant	rs10451542
Chromosome Location	chr2:168046215-168046216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1155284	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1155285	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11888230	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11893404	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11902653	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1346722	0.82[CEU][hapmap]
rs1479592	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16853050	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16853057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16853185	0.90[JPT][hapmap]
rs16853217	0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4000962	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4533448	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.85[LWK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs55733637	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58616240	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59504679	0.87[EUR][1000 genomes]
rs6432979	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66701411	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67074513	0.82[EUR][1000 genomes]
rs6711844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6720352	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs6720763	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs67386767	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67485531	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67726376	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68108130	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73017939	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7556854	0.95[GIH][hapmap];0.83[YRI][hapmap]
rs7569147	1.00[CEU][hapmap];0.81[GIH][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs7575729	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7585061	0.86[CHD][hapmap];0.85[JPT][hapmap]
rs7597463	0.95[JPT][hapmap]
rs988445	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998899	0.93[CEU][hapmap];0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10451542	GRB14	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168039000-168048000	Weak transcription	NHEK	skin
2	chr2:168039000-168053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:168039200-168048000	Weak transcription	NHLF	lung
4	chr2:168042400-168048000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:168042800-168047000	Enhancers	Colon Smooth Muscle	Colon
6	chr2:168043400-168046600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:168043400-168051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:168043600-168047400	Active TSS	Psoas Muscle	Psoas
9	chr2:168043800-168046400	Active TSS	Right Atrium	heart
10	chr2:168043800-168047000	Active TSS	Fetal Muscle Trunk	muscle
11	chr2:168043800-168049600	Active TSS	Right Ventricle	heart
12	chr2:168043800-168050200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:168044000-168046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:168044000-168046400	Active TSS	Fetal Muscle Leg	muscle
15	chr2:168044000-168046800	Weak transcription	Ovary	ovary
16	chr2:168044000-168047600	Active TSS	Left Ventricle	heart
17	chr2:168044400-168049200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:168045000-168050200	Enhancers	Osteobl	bone
19	chr2:168045000-168053000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:168045200-168046400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:168045200-168049200	Weak transcription	HSMMtube	muscle
22	chr2:168045400-168052600	Weak transcription	Fetal Lung	lung
23	chr2:168045400-168053200	Weak transcription	Fetal Brain Female	brain
24	chr2:168045600-168046400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:168045600-168053000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:168045800-168051600	Weak transcription	Fetal Heart	heart
27	chr2:168046000-168046600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr2:168046000-168049000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:168046200-168046600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr2:168046200-168046800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:168046200-168046800	Enhancers	Aorta	Aorta
32	chr2:168046200-168046800	Enhancers	Pancreas	Pancrea
33	chr2:168046200-168046800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:168046200-168046800	Enhancers	HSMM	muscle
35	chr2:168046200-168046800	Enhancers	NHDF-Ad	bronchial
36	chr2:168046200-168047000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:168046200-168047000	Enhancers	Adipose Nuclei	Adipose
38	chr2:168046200-168047600	Enhancers	HMEC	breast

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