Variant report

Variant	rs4694639
Chromosome Location	chr4:74699054-74699055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr4:74698234-74699083	K562	blood:	n/a	chr4:74698880-74698895
2	TEAD4	chr4:74698110-74699207	K562	blood:	n/a	n/a
3	FOXA1	chr4:74698732-74699056	HepG2	liver:	n/a	n/a
4	CUX1	chr4:74698107-74699156	K562	blood:	n/a	n/a
5	BHLHE40	chr4:74698338-74699246	K562	blood:	n/a	n/a
6	CBX3	chr4:74698198-74699239	K562	blood:	n/a	n/a
7	GATA1	chr4:74697893-74699628	K562	blood:	n/a	chr4:74698501-74698510 chr4:74698497-74698513

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74697766..74699657-chr4:74903012..74905803,2	K562	blood:
2	chr4:74696829..74699288-chr4:75022535..75024301,2	K562	blood:

Variant related genes	Relation type
CXCL6	TF binding region
ENSG00000163734	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11730667	0.85[CHB][hapmap]
rs11930978	0.89[ASN][1000 genomes]
rs12503139	0.84[ASN][1000 genomes]
rs12644561	0.84[ASN][1000 genomes]
rs13109146	0.81[ASN][1000 genomes]
rs13110736	0.86[ASN][1000 genomes]
rs13117876	0.85[CHB][hapmap]
rs13151869	0.84[ASN][1000 genomes]
rs16850073	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1951235	0.83[ASN][1000 genomes]
rs1957078	0.89[ASN][1000 genomes]
rs2145617	0.81[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs2224434	0.81[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs4694178	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs4694636	0.85[CHB][hapmap]
rs4694637	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs4694641	0.86[ASN][1000 genomes]
rs62312418	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	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
rs4694639	LOC148824	trans	lymphoblastoid	seeQTL
rs4694639	THAP6	cis	parietal	SCAN
rs4694639	SDAD1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74695200-74701800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:74695400-74702000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:74697200-74699400	Enhancers	NHDF-Ad	bronchial
4	chr4:74697200-74699400	Enhancers	Osteobl	bone
5	chr4:74697400-74699600	Enhancers	HMEC	breast
6	chr4:74697800-74699200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:74697800-74699200	Enhancers	NH-A	brain
8	chr4:74697800-74699400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74697800-74699400	Enhancers	HSMM	muscle
10	chr4:74697800-74699800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:74697800-74699800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:74697800-74699800	Enhancers	K562	blood
13	chr4:74697800-74699800	Enhancers	NHEK	skin
14	chr4:74698000-74699200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:74698000-74699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:74698000-74699400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:74698000-74699800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:74698200-74699400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:74698200-74699400	Enhancers	Dnd41	blood
20	chr4:74698600-74699200	Enhancers	Hela-S3	cervix
21	chr4:74698600-74699200	Enhancers	HepG2	liver
22	chr4:74698600-74699400	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:74698800-74701800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:74698800-74702000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:74698800-74702200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:74699000-74702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:74699000-74702000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:74699000-74702000	Weak transcription	NHLF	lung

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