Variant report

Variant	rs1837559
Chromosome Location	chr4:74959093-74959094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74945536..74947628-chr4:74958241..74960717,2	K562	blood:
2	chr4:74917692..74925936-chr4:74958187..74967502,26	K562	blood:
3	chr4:74918446..74926481-chr4:74958079..74968779,32	K562	blood:
4	chr4:74902606..74909435-chr4:74957858..74963020,9	K562	blood:

Variant related genes	Relation type
ENSG00000248848	Chromatin interaction
ENSG00000163734	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10938107	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11725704	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11733208	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12642974	0.91[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12649753	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13124617	0.92[EUR][1000 genomes]
rs13128896	0.85[EUR][1000 genomes]
rs1371794	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1371798	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs1371799	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs16850408	0.86[AMR][1000 genomes]
rs1866755	0.87[CEU][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs3806792	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs518867	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546829	0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs549280	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61688633	0.89[AMR][1000 genomes]
rs72652928	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652934	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7667376	0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs7686861	0.83[CEU][hapmap]
rs882638	0.91[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs9131	0.91[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs981458	0.82[EUR][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	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
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3443825	chr4:74903785-74964443	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74954800-74963800	Weak transcription	HSMMtube	muscle
2	chr4:74956000-74960000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:74956200-74960000	Weak transcription	Fetal Intestine Small	intestine
4	chr4:74956400-74960600	Enhancers	K562	blood
5	chr4:74956600-74960000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:74957000-74959600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:74958000-74962000	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:74958200-74962800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:74958400-74959200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:74958400-74959400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:74958400-74960400	Enhancers	Hela-S3	cervix
12	chr4:74958400-74961000	Enhancers	HUVEC	blood vessel
13	chr4:74958400-74963400	Enhancers	Fetal Intestine Large	intestine
14	chr4:74958600-74959400	Enhancers	Stomach Mucosa	stomach
15	chr4:74958600-74959400	Enhancers	NHEK	skin
16	chr4:74958600-74959600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:74958600-74960600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:74958800-74959400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:74958800-74959600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:74958800-74959600	Enhancers	HMEC	breast
21	chr4:74958800-74964200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:74959000-74960000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:74959000-74962400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:74959000-74963800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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