Variant report

Variant	rs7645220
Chromosome Location	chr3:178679751-178679752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:178674268..178676361-chr3:178678213..178681169,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3863113	0.87[ASN][1000 genomes]
rs4076914	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4128351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4245915	0.87[ASN][1000 genomes]
rs4287947	0.94[EUR][1000 genomes]
rs4362766	0.87[ASN][1000 genomes]
rs4955803	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4955806	0.81[CEU][hapmap]
rs59209782	0.82[ASN][1000 genomes]
rs61796628	0.84[ASN][1000 genomes]
rs61796652	0.87[ASN][1000 genomes]
rs6762374	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73185378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73185389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73185393	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73187210	0.89[EUR][1000 genomes]
rs7622600	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1010148	chr3:178650949-178691377	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7645220	ZMAT3	Cis_1M	lymphoblastoid	RTeQTL
rs7645220	UBL3	trans	cerebellum	SCAN
rs7645220	ALG3	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178668800-178683000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:178669400-178685000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:178671400-178684000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:178676800-178683600	Weak transcription	GM12878-XiMat	blood
5	chr3:178677800-178679800	Genic enhancers	HSMM	muscle
6	chr3:178677800-178679800	Enhancers	HSMMtube	muscle
7	chr3:178677800-178680000	Enhancers	Fetal Lung	lung
8	chr3:178677800-178680000	Enhancers	Fetal Stomach	stomach
9	chr3:178678000-178679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:178678000-178680200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:178678200-178684600	Weak transcription	Psoas Muscle	Psoas
12	chr3:178678600-178679800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:178678600-178684000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:178678600-178684000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:178678600-178684200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:178678600-178684600	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:178678800-178684400	Weak transcription	Brain Anterior Caudate	brain
18	chr3:178679000-178680000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:178679000-178680000	Enhancers	Ovary	ovary
20	chr3:178679400-178679800	Enhancers	Brain Germinal Matrix	brain
21	chr3:178679400-178679800	Enhancers	Gastric	stomach
22	chr3:178679400-178680200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:178679400-178684200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:178679600-178679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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