Variant report

Variant	rs988445
Chromosome Location	chr2:168051141-168051142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10451542	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]
rs10497310	0.88[ASW][hapmap];0.83[YRI][hapmap]
rs1155284	0.93[CEU][hapmap];0.95[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];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11893404	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11902653	1.00[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1346722	0.82[CEU][hapmap]
rs1479592	0.93[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16853050	0.93[CEU][hapmap];0.95[CHB][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16853057	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16853185	0.90[JPT][hapmap];0.81[AFR][1000 genomes]
rs16853217	0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4000962	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4533448	1.00[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs55733637	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58616240	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59504679	0.88[EUR][1000 genomes]
rs6432979	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66701411	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67074513	0.83[EUR][1000 genomes]
rs6711844	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6720352	0.93[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes]
rs6720763	1.00[CEU][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs67386767	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67485531	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67726376	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68108130	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73017939	0.94[EUR][1000 genomes]
rs7556854	0.95[GIH][hapmap]
rs7569147	1.00[CEU][hapmap];0.81[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs7575729	0.93[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]
rs998899	0.93[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]

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
rs988445	GRB14	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168039000-168053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:168045000-168053000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:168045400-168052600	Weak transcription	Fetal Lung	lung
4	chr2:168045400-168053200	Weak transcription	Fetal Brain Female	brain
5	chr2:168045600-168053000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:168045800-168051600	Weak transcription	Fetal Heart	heart
7	chr2:168046800-168052000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:168047000-168053000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:168048400-168052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:168049400-168052000	Weak transcription	Psoas Muscle	Psoas
11	chr2:168049400-168052800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:168049600-168052200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:168049600-168052800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:168049600-168078800	Weak transcription	Right Ventricle	heart
15	chr2:168050000-168052800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:168050000-168052800	Weak transcription	NHLF	lung
17	chr2:168050000-168053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:168050000-168053000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:168050000-168053000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:168050000-168053000	Weak transcription	NH-A	brain
21	chr2:168050200-168051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:168050200-168052200	Weak transcription	Left Ventricle	heart
23	chr2:168050200-168052800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:168050200-168052800	Weak transcription	Right Atrium	heart
25	chr2:168050200-168052800	Weak transcription	NHDF-Ad	bronchial
26	chr2:168050200-168053000	Weak transcription	HMEC	breast
27	chr2:168050200-168053000	Weak transcription	HSMM	muscle
28	chr2:168050200-168053000	Weak transcription	HSMMtube	muscle
29	chr2:168050200-168053000	Weak transcription	Osteobl	bone
30	chr2:168050800-168053600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:168051000-168052600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:168051000-168052800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:168051000-168053000	Enhancers	Primary hematopoietic stem cells	blood

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