Variant report

Variant	rs1188689
Chromosome Location	chr14:56801445-56801446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56794620..56796149-chr14:56801330..56803015,2	K562	blood:
2	chr14:56800511..56802640-chr14:56807027..56808554,2	K562	blood:
3	chr14:56643693..56645416-chr14:56800419..56803265,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1023120	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1028973	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1152464	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1152466	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1152471	0.81[EUR][1000 genomes]
rs1152477	0.81[EUR][1000 genomes]
rs1152479	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1152488	0.83[EUR][1000 genomes]
rs1152493	0.87[EUR][1000 genomes]
rs1188691	0.83[EUR][1000 genomes]
rs6573085	0.81[JPT][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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
2	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:56792400-56808400	Weak transcription	Fetal Brain Female	brain
4	chr14:56793800-56806600	Weak transcription	Aorta	Aorta
5	chr14:56797800-56808800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:56798800-56806600	Weak transcription	HSMMtube	muscle
7	chr14:56798800-56806800	Weak transcription	Placenta	Placenta
8	chr14:56798800-56818600	Weak transcription	Pancreas	Pancrea
9	chr14:56799000-56806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:56799000-56808400	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:56799000-56808600	Weak transcription	Primary T cells from cord blood	blood
12	chr14:56799400-56801800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:56799400-56806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:56799600-56802000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:56799600-56802000	Enhancers	NHLF	lung
16	chr14:56799600-56802200	Enhancers	HUVEC	blood vessel
17	chr14:56799800-56801800	Enhancers	NHDF-Ad	bronchial
18	chr14:56799800-56802000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr14:56800000-56801600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:56800000-56801600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr14:56800000-56801600	Enhancers	Osteobl	bone
22	chr14:56800000-56801800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:56800000-56801800	Enhancers	NH-A	brain
24	chr14:56800000-56802200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:56800400-56805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:56800400-56806400	Weak transcription	Adipose Nuclei	Adipose
27	chr14:56800400-56806400	Weak transcription	Lung	lung
28	chr14:56800600-56805200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:56800600-56805600	Weak transcription	HSMM	muscle
30	chr14:56800600-56806400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:56800800-56805200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:56800800-56805600	Weak transcription	K562	blood
33	chr14:56800800-56806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:56800800-56809800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:56801000-56802200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:56801000-56804800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:56801000-56806200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:56801000-56806400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:56801000-56806400	Weak transcription	Hela-S3	cervix
40	chr14:56801200-56806400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:56801400-56806400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:56801400-56806400	Weak transcription	Dnd41	blood
43	chr14:56801400-56808600	Weak transcription	Fetal Lung	lung

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