Variant report

Variant	rs4694649
Chromosome Location	chr4:74760458-74760459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74759338..74760983-chr4:74763696..74765672,2	K562	blood:
2	chr4:74758611..74762453-chr4:74763527..74766152,5	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10020344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10518118	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12644965	0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs1429638	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4422395	1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4694644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56366267	0.82[ASN][1000 genomes]
rs625837	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6842204	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7438101	0.81[ASN][1000 genomes]
rs9991272	0.80[MEX][hapmap]

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	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
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4694649	FAM47E	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74752000-74760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:74757200-74770400	Enhancers	NHDF-Ad	bronchial
3	chr4:74757400-74761000	Weak transcription	Stomach Mucosa	stomach
4	chr4:74757600-74760600	Weak transcription	Pancreas	Pancrea
5	chr4:74757600-74761200	Weak transcription	Spleen	Spleen
6	chr4:74758200-74760800	Weak transcription	Osteobl	bone
7	chr4:74758800-74761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:74759000-74761000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:74759200-74760600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:74759200-74764600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:74759800-74761200	Enhancers	Fetal Stomach	stomach
12	chr4:74759800-74770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:74760000-74760800	Weak transcription	Fetal Intestine Large	intestine
14	chr4:74760000-74760800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:74760000-74761400	Enhancers	NHLF	lung
16	chr4:74760000-74761600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr4:74760000-74762600	Enhancers	Fetal Intestine Small	intestine
18	chr4:74760200-74760600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:74760200-74760600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:74760200-74760800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:74760200-74761400	Enhancers	Adipose Nuclei	Adipose
22	chr4:74760200-74767000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:74760400-74760600	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:74760400-74761600	Weak transcription	Fetal Kidney	kidney

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