Variant report

Variant	rs7621019
Chromosome Location	chr3:150123479-150123480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
2	chr3:150111194..150113689-chr3:150123124..150124651,2	MCF-7	breast:
3	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
4	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
5	chr3:150108770..150111443-chr3:150121754..150123865,2	K562	blood:
6	chr19:55917718..55920668-chr3:150122792..150125732,2	K562	blood:
7	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
8	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10513368	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10513369	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10513370	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10513371	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10513372	0.89[ASN][1000 genomes]
rs10513375	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11713072	0.93[ASN][1000 genomes]
rs11714123	1.00[JPT][hapmap]
rs11928577	0.89[ASN][1000 genomes]
rs11928948	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13066114	0.93[ASN][1000 genomes]
rs13067910	0.83[ASN][1000 genomes]
rs13068946	0.93[ASN][1000 genomes]
rs13073230	0.85[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13076419	0.89[ASN][1000 genomes]
rs13317818	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376027	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17278131	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28571974	0.89[ASN][1000 genomes]
rs28587291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2868430	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34106738	0.89[ASN][1000 genomes]
rs34156311	0.96[ASN][1000 genomes]
rs34419133	0.89[ASN][1000 genomes]
rs34503712	0.89[ASN][1000 genomes]
rs34647320	0.93[ASN][1000 genomes]
rs34983941	0.89[ASN][1000 genomes]
rs35234277	0.86[ASN][1000 genomes]
rs3749400	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3811719	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61734437	0.93[ASN][1000 genomes]
rs66816665	0.93[ASN][1000 genomes]
rs67073112	0.93[ASN][1000 genomes]
rs6791546	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6799106	0.93[ASN][1000 genomes]
rs6799981	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs73165716	0.89[ASN][1000 genomes]
rs7614772	0.93[ASN][1000 genomes]
rs7618493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620193	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623100	0.89[ASN][1000 genomes]
rs9827736	0.93[ASN][1000 genomes]
rs9844735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1818335	chr3:150122121-150128717	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7621019	CPA3	cis	parietal	SCAN
rs7621019	CPB1	cis	parietal	SCAN
rs7621019	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150109200-150124400	Weak transcription	HSMM	muscle
3	chr3:150109200-150124600	Weak transcription	NHLF	lung
4	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:150119600-150124600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:150119600-150124600	Weak transcription	Fetal Intestine Small	intestine
10	chr3:150120200-150124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:150121400-150124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:150121600-150123600	Weak transcription	A549	lung
13	chr3:150121600-150125200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:150121800-150124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:150121800-150124800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:150121800-150124800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:150121800-150125000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:150122200-150123600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:150122200-150124200	Weak transcription	HSMMtube	muscle
20	chr3:150122200-150124400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:150122200-150124800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:150122200-150124800	Weak transcription	Hela-S3	cervix
23	chr3:150122200-150125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:150122200-150125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:150122400-150124400	Weak transcription	NHEK	skin
26	chr3:150122400-150124600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:150122400-150124600	Weak transcription	HMEC	breast
28	chr3:150122400-150124600	Weak transcription	NHDF-Ad	bronchial
29	chr3:150123400-150124200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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