Variant report

Variant	rs1152596
Chromosome Location	chr14:64673867-64673868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11158526	1.00[CEU][hapmap]
rs11158529	1.00[CEU][hapmap]
rs1152580	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1152585	0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs1152597	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs1152598	0.84[AFR][1000 genomes]
rs1152600	1.00[YRI][hapmap]
rs11628107	1.00[CEU][hapmap]
rs11629158	0.81[CHB][hapmap]
rs11850509	1.00[CEU][hapmap]
rs12432035	1.00[CEU][hapmap]
rs12435492	1.00[CEU][hapmap]
rs1255989	0.85[JPT][hapmap]
rs1255994	1.00[MEX][hapmap]
rs1256034	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1256049	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1256053	1.00[CEU][hapmap]
rs1256055	1.00[CEU][hapmap]
rs1256060	1.00[CEU][hapmap]
rs1256066	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1256104	1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1256105	0.84[JPT][hapmap]
rs2357482	0.84[JPT][hapmap]
rs4899135	0.84[JPT][hapmap]
rs4902278	1.00[GIH][hapmap];0.84[JPT][hapmap]
rs7144437	1.00[GIH][hapmap];0.84[JPT][hapmap]
rs944050	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs944459	0.84[CHB][hapmap]
rs944460	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs944461	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs953592	1.00[CEU][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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64660800-64682600	Weak transcription	Hela-S3	cervix
2	chr14:64661600-64675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:64661600-64675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:64661800-64675400	Weak transcription	NHEK	skin
5	chr14:64661800-64675600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:64662400-64675200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:64662800-64674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:64664000-64699600	Weak transcription	Small Intestine	intestine
9	chr14:64664200-64675000	Weak transcription	Aorta	Aorta
10	chr14:64664200-64675000	Weak transcription	Colonic Mucosa	Colon
11	chr14:64664200-64675400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:64664200-64676200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr14:64664200-64698600	Weak transcription	HMEC	breast
14	chr14:64664400-64675800	Weak transcription	NHLF	lung
15	chr14:64665000-64674800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:64665000-64675600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:64665200-64676600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:64665400-64674800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:64665400-64675400	Weak transcription	Brain Anterior Caudate	brain
20	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:64666000-64675200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:64666200-64674800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:64666200-64675400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:64666200-64675800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:64666200-64678600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:64666200-64686000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:64666800-64699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:64667200-64675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:64667200-64675000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:64667400-64674800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:64667400-64675000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:64667400-64679200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:64667400-64690200	Weak transcription	HepG2	liver
34	chr14:64667600-64674800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:64667600-64675200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:64667600-64676000	Weak transcription	Psoas Muscle	Psoas
37	chr14:64667600-64676000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:64667600-64686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:64667800-64674800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:64667800-64674800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:64667800-64675000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:64667800-64675400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:64667800-64675400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:64667800-64676400	Weak transcription	Brain Substantia Nigra	brain
45	chr14:64667800-64678600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:64668000-64674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:64668000-64674800	Weak transcription	Adipose Nuclei	Adipose
48	chr14:64668000-64674800	Weak transcription	GM12878-XiMat	blood
49	chr14:64668000-64675000	Weak transcription	Brain Germinal Matrix	brain
50	chr14:64668000-64675000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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