Variant report

Variant	rs1347440
Chromosome Location	chr2:178938774-178938775
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	JUN	chr2:178936574-178940165	K562	blood:	n/a	chr2:178937775-178937783 chr2:178939597-178939606
2	RCOR1	chr2:178938767-178939848	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178937601..178939157-chr2:179060683..179062611,2	K562	blood:
2	chr2:178937877..178941148-chr2:179277958..179279935,3	K562	blood:

Variant related genes	Relation type
PDE11A	TF binding region
ENSG00000223960	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1527291	1.00[AMR][1000 genomes]
rs16823484	0.85[AMR][1000 genomes]
rs16865903	0.85[AMR][1000 genomes]
rs16865998	1.00[AMR][1000 genomes]
rs16865999	1.00[AMR][1000 genomes]
rs16866003	1.00[AMR][1000 genomes]
rs16866031	0.85[AMR][1000 genomes]
rs16866034	0.85[AMR][1000 genomes]
rs16866043	1.00[AMR][1000 genomes]
rs16866058	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16866108	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6708449	0.85[AMR][1000 genomes]
rs6733229	0.85[AMR][1000 genomes]
rs6750238	0.85[AMR][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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178937400-178940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:178937800-178939600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:178937800-178940000	Flanking Active TSS	K562	blood
4	chr2:178938000-178938800	Flanking Active TSS	A549	lung
5	chr2:178938000-178939200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:178938000-178939400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:178938000-178939400	Weak transcription	Gastric	stomach
8	chr2:178938000-178939600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:178938000-178940000	Enhancers	Stomach Mucosa	stomach
10	chr2:178938200-178939200	Weak transcription	HUVEC	blood vessel
11	chr2:178938200-178939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:178938200-178939600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:178938200-178939800	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:178938200-178940000	Enhancers	HMEC	breast
15	chr2:178938200-178940000	Enhancers	NHEK	skin
16	chr2:178938400-178939000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:178938400-178939400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:178938400-178939400	Weak transcription	NH-A	brain
19	chr2:178938400-178940000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:178938400-178940000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:178938400-178940000	Enhancers	Fetal Intestine Large	intestine
22	chr2:178938400-178940000	Enhancers	Fetal Intestine Small	intestine
23	chr2:178938600-178938800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:178938600-178938800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr2:178938600-178939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:178938600-178939000	Weak transcription	Hela-S3	cervix
27	chr2:178938600-178939400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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