Variant report

Variant	rs7584329
Chromosome Location	chr2:187621427-187621428
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10931252	0.87[ASW][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs10931254	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1123176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs11683459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684356	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11684434	0.90[ASN][1000 genomes]
rs11684626	0.90[ASN][1000 genomes]
rs11695399	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.90[ASN][1000 genomes]
rs11885414	0.88[ASN][1000 genomes]
rs11885416	0.88[ASN][1000 genomes]
rs11886619	0.88[ASN][1000 genomes]
rs11891192	0.88[ASN][1000 genomes]
rs11891461	0.88[ASN][1000 genomes]
rs11902171	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs12612335	0.84[CHB][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12614008	0.88[ASN][1000 genomes]
rs12617531	0.86[ASN][1000 genomes]
rs12619357	0.88[ASN][1000 genomes]
rs12621915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16828148	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.83[ASN][1000 genomes]
rs16828163	0.87[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs16828175	0.88[ASN][1000 genomes]
rs16828182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16828214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595389	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs2887831	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs3213963	0.83[ASN][1000 genomes]
rs36079004	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3738919	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];0.81[ASN][1000 genomes]
rs3768784	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3768787	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.83[ASN][1000 genomes]
rs3795865	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3886170	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs58757504	0.83[ASN][1000 genomes]
rs61764186	0.86[ASN][1000 genomes]
rs61764188	0.86[ASN][1000 genomes]
rs61764575	0.86[ASN][1000 genomes]
rs61764576	0.88[ASN][1000 genomes]
rs61764580	0.88[ASN][1000 genomes]
rs6723908	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs72905143	0.88[ASN][1000 genomes]
rs72905150	0.88[ASN][1000 genomes]
rs72905152	0.88[ASN][1000 genomes]
rs72905160	0.88[ASN][1000 genomes]
rs72905169	0.90[ASN][1000 genomes]
rs7589682	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7584329	CALCRL	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187596600-187626200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:187603200-187626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:187603200-187626600	Weak transcription	Fetal Stomach	stomach
5	chr2:187603400-187626400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:187603600-187626600	Weak transcription	Left Ventricle	heart
7	chr2:187605000-187626200	Weak transcription	NHDF-Ad	bronchial
8	chr2:187605000-187626400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:187607400-187626200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:187611000-187626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:187611000-187628800	Weak transcription	HSMM	muscle
13	chr2:187611800-187623800	Weak transcription	Psoas Muscle	Psoas
14	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:187612400-187628800	Weak transcription	Fetal Kidney	kidney
16	chr2:187613000-187621600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:187613000-187626200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:187613200-187626400	Weak transcription	NHLF	lung
19	chr2:187613200-187630000	Weak transcription	Spleen	Spleen
20	chr2:187613400-187621600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:187613400-187626600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:187613400-187626600	Weak transcription	Lung	lung
23	chr2:187613400-187626600	Weak transcription	Pancreas	Pancrea
24	chr2:187613600-187626600	Weak transcription	Aorta	Aorta
25	chr2:187613800-187626200	Weak transcription	HUVEC	blood vessel
26	chr2:187613800-187626400	Weak transcription	Brain Substantia Nigra	brain
27	chr2:187613800-187626600	Weak transcription	Fetal Lung	lung
28	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:187614000-187626200	Weak transcription	Adipose Nuclei	Adipose
30	chr2:187614000-187626400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:187616800-187621600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:187616800-187626400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:187617200-187626200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:187617200-187626400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:187617200-187626600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:187617400-187622000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:187617400-187626400	Weak transcription	Fetal Brain Male	brain
38	chr2:187617600-187627800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:187618400-187629200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:187619400-187625600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:187619400-187626200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:187619400-187626400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:187619400-187626400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:187619400-187626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:187619400-187626600	Weak transcription	Fetal Brain Female	brain
46	chr2:187619800-187626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:187619800-187626400	Weak transcription	Placenta	Placenta
48	chr2:187620400-187626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:187620600-187626200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:187620600-187626200	Weak transcription	Muscle Satellite Cultured Cells	--

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