Variant report

Variant	rs2215605
Chromosome Location	chr2:37818236-37818237
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10490284	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17021064	0.89[EUR][1000 genomes]
rs2191845	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2191847	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62134989	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6719698	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6761587	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2215605	CDC42EP3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37809800-37818400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:37811400-37818400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:37813600-37819200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:37814200-37819000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:37814200-37819000	Enhancers	A549	lung
6	chr2:37814200-37819400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:37814400-37818600	Enhancers	HUVEC	blood vessel
8	chr2:37814600-37819200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:37815000-37818800	Weak transcription	Psoas Muscle	Psoas
10	chr2:37815600-37819200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:37816400-37818400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:37816400-37818400	Enhancers	Fetal Lung	lung
13	chr2:37816800-37819400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:37817200-37818400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:37817200-37819200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:37817200-37819400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:37817200-37819400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:37817600-37818800	Weak transcription	Adipose Nuclei	Adipose
19	chr2:37817600-37818800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:37817600-37818800	Weak transcription	Right Atrium	heart
21	chr2:37817600-37819000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:37817600-37819000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:37817600-37819000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:37817600-37819200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:37817800-37818400	Enhancers	HSMMtube	muscle
26	chr2:37817800-37818800	Weak transcription	GM12878-XiMat	blood
27	chr2:37817800-37819000	Weak transcription	Primary T cells from cord blood	blood
28	chr2:37817800-37819000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:37817800-37819000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:37817800-37819000	Weak transcription	Fetal Thymus	thymus
31	chr2:37817800-37819000	Weak transcription	Thymus	Thymus
32	chr2:37817800-37822000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:37818000-37818400	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:37818000-37818600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:37818000-37819200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:37818000-37819200	Enhancers	HSMM	muscle
37	chr2:37818000-37820200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:37818200-37818600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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