Variant report

Variant	rs1209419
Chromosome Location	chr14:35292287-35292288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1013807	0.87[CHB][hapmap]
rs10141974	0.86[CHB][hapmap]
rs10147359	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11156863	0.87[CHB][hapmap]
rs11156865	0.83[JPT][hapmap]
rs11625876	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11844788	0.87[CHB][hapmap]
rs1200393	0.86[ASN][1000 genomes]
rs1200396	0.87[ASN][1000 genomes]
rs1200398	0.86[ASN][1000 genomes]
rs1200399	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs1200404	0.89[ASN][1000 genomes]
rs1200405	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1200407	0.96[YRI][hapmap]
rs1200408	0.86[ASN][1000 genomes]
rs1200410	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1200411	0.83[ASN][1000 genomes]
rs1208461	0.81[CHB][hapmap]
rs12587814	0.86[CHB][hapmap]
rs1474940	0.87[CHB][hapmap]
rs1712367	1.00[CEU][hapmap]
rs1953430	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs1973944	0.87[CHB][hapmap]
rs2275145	0.86[CHB][hapmap]
rs2275148	0.86[CHB][hapmap]
rs2383678	0.86[CHB][hapmap]
rs2383680	0.81[ASN][1000 genomes]
rs2749983	0.87[ASN][1000 genomes]
rs2891295	0.87[CHB][hapmap]
rs3783313	0.82[CHB][hapmap]
rs3783317	0.86[CHB][hapmap]
rs4387519	0.87[CHB][hapmap]
rs4982214	0.86[CHB][hapmap]
rs4982226	0.82[CHB][hapmap]
rs7142040	0.86[CHB][hapmap]
rs7144793	0.87[CHB][hapmap]
rs7146099	0.87[CHB][hapmap]
rs7147682	0.80[ASN][1000 genomes]
rs7158753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7342504	0.86[CHB][hapmap]
rs7342544	0.86[CHB][hapmap]
rs8006073	0.82[ASN][1000 genomes]
rs8011755	0.81[CHB][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	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
2	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
4	chr14:35265000-35296000	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:35269200-35298000	Weak transcription	Ovary	ovary
6	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
7	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:35270400-35303400	Weak transcription	Stomach Mucosa	stomach
9	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
10	chr14:35272000-35296200	Weak transcription	Brain Germinal Matrix	brain
11	chr14:35272400-35300200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:35274200-35311800	Weak transcription	HSMMtube	muscle
14	chr14:35274400-35296400	Weak transcription	Aorta	Aorta
15	chr14:35274400-35303400	Weak transcription	Left Ventricle	heart
16	chr14:35274400-35312400	Weak transcription	Gastric	stomach
17	chr14:35274600-35293000	Weak transcription	Fetal Lung	lung
18	chr14:35274800-35312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:35275200-35298000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:35276200-35307200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
22	chr14:35276400-35297800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
25	chr14:35276600-35320000	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:35276800-35293000	Weak transcription	NHLF	lung
27	chr14:35276800-35293600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:35276800-35293600	Weak transcription	K562	blood
29	chr14:35277000-35300600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:35277000-35307200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:35277200-35322000	Weak transcription	Fetal Intestine Large	intestine
32	chr14:35280200-35293000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:35280200-35294200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:35280200-35295800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:35280200-35295800	Weak transcription	NHDF-Ad	bronchial
36	chr14:35280400-35293800	Weak transcription	HUVEC	blood vessel
37	chr14:35282000-35300400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:35282200-35300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:35282600-35294200	Weak transcription	Adipose Nuclei	Adipose
40	chr14:35282600-35300400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:35282600-35323400	Weak transcription	Lung	lung
42	chr14:35283800-35295800	Weak transcription	NHEK	skin
43	chr14:35285000-35300600	Strong transcription	Dnd41	blood
44	chr14:35285600-35299400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:35286600-35292400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:35286600-35298600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:35287000-35295800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:35287000-35298200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:35287600-35299400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:35287800-35294400	Strong transcription	Liver	Liver

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