Variant report

Variant	rs4695372
Chromosome Location	chr4:48332641-48332642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48322582..48327982-chr4:48329571..48333922,4	K562	blood:
2	chr4:48331436..48334148-chr4:48342438..48345400,3	MCF-7	breast:
3	chr4:48329154..48338368-chr4:48340296..48348694,15	MCF-7	breast:
4	chr4:48322582..48325559-chr4:48331467..48333922,2	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10008882	0.86[ASN][1000 genomes]
rs10014431	0.85[ASN][1000 genomes]
rs10022525	0.86[TSI][hapmap]
rs10033395	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10049672	0.89[ASN][1000 genomes]
rs10049857	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1472968	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1472969	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17609346	0.87[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs177956	0.85[ASN][1000 genomes]
rs1806833	0.92[ASN][1000 genomes]
rs2036770	0.92[ASN][1000 genomes]
rs309897	0.82[ASN][1000 genomes]
rs58961640	0.92[ASN][1000 genomes]
rs67977239	0.92[ASN][1000 genomes]
rs6830856	0.92[ASN][1000 genomes]
rs729740	0.92[ASN][1000 genomes]
rs7678145	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs9994779	0.83[CEU][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4695372	TEC	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48325200-48334200	Weak transcription	Placenta	Placenta
2	chr4:48330000-48334200	Enhancers	HSMM	muscle
3	chr4:48330000-48336200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:48330000-48342400	Weak transcription	Esophagus	oesophagus
5	chr4:48330200-48335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:48330400-48333800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:48330800-48336000	Enhancers	NHDF-Ad	bronchial
8	chr4:48331000-48334200	Enhancers	NH-A	brain
9	chr4:48331000-48334200	Enhancers	NHLF	lung
10	chr4:48331000-48336400	Enhancers	NHEK	skin
11	chr4:48331000-48337400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:48331200-48333000	Enhancers	Hela-S3	cervix
13	chr4:48331200-48334200	Enhancers	Osteobl	bone
14	chr4:48331200-48335000	Enhancers	HMEC	breast
15	chr4:48331200-48336400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:48331400-48332800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:48331400-48332800	Enhancers	HUVEC	blood vessel
18	chr4:48331400-48334200	Weak transcription	Psoas Muscle	Psoas
19	chr4:48331600-48332800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:48331600-48335600	Weak transcription	K562	blood
21	chr4:48331600-48339400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:48331600-48339600	Weak transcription	Stomach Mucosa	stomach
23	chr4:48331600-48340800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:48331800-48333600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:48332000-48333000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:48332000-48334600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:48332200-48332800	Flanking Active TSS	A549	lung
28	chr4:48332200-48333600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:48332200-48333800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:48332200-48334400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:48332200-48334400	Enhancers	HSMMtube	muscle
32	chr4:48332400-48332800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:48332400-48334200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:48332600-48334800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:48332600-48339200	Weak transcription	Rectal Mucosa Donor 31	rectum

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