Variant report

Variant	rs4633908
Chromosome Location	chr2:37791321-37791322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37779367..37783955-chr2:37786259..37791654,6	K562	blood:
2	chr2:37786608..37790547-chr2:37791244..37795872,7	K562	blood:
3	chr2:37789729..37791788-chr2:37804945..37807693,2	K562	blood:
4	chr2:37789512..37791972-chr2:37800860..37802829,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4524108	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62133462	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62135623	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7419452	0.90[AMR][1000 genomes];0.97[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4633908	CDC42EP3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37783400-37795600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37787400-37791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:37787400-37792000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:37787600-37793400	Enhancers	NHDF-Ad	bronchial
5	chr2:37788000-37791400	Enhancers	Osteobl	bone
6	chr2:37788200-37792000	Enhancers	NHLF	lung
7	chr2:37788400-37794800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:37788600-37791400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:37789000-37791800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:37789200-37793400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:37789200-37794400	Weak transcription	Psoas Muscle	Psoas
12	chr2:37789200-37795800	Weak transcription	Left Ventricle	heart
13	chr2:37789200-37796800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:37789400-37793600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:37789400-37795600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:37789400-37795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:37789600-37791400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:37789600-37791600	Enhancers	A549	lung
19	chr2:37789600-37792800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:37789600-37793800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:37789600-37795800	Weak transcription	Fetal Brain Male	brain
22	chr2:37789800-37791800	Active TSS	K562	blood
23	chr2:37790000-37791600	Enhancers	HSMM	muscle
24	chr2:37790000-37793600	Weak transcription	HMEC	breast
25	chr2:37790400-37793400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:37790400-37797000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:37790400-37797800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:37790800-37793400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:37790800-37793400	Weak transcription	HSMMtube	muscle
30	chr2:37790800-37793800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:37791000-37791400	Weak transcription	Ovary	ovary
32	chr2:37791000-37793400	Weak transcription	HUVEC	blood vessel
33	chr2:37791000-37794000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:37791200-37791600	Weak transcription	NH-A	brain
35	chr2:37791200-37794000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:37791200-37795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:37791200-37795800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:37791200-37796600	Weak transcription	Hela-S3	cervix

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