Variant report

Variant	rs17091062
Chromosome Location	chr14:56595371-56595372
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10152004	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap]
rs1023120	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs1028973	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs1152464	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs1152466	0.83[CHD][hapmap]
rs12589933	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs1382974	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap]
rs17091112	1.00[CEU][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes]
rs17091123	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs17091196	1.00[CEU][hapmap]
rs2228708	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[EUR][1000 genomes]
rs2297610	1.00[CEU][hapmap]
rs3783659	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs385141	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs3898605	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs4636823	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573085	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7141484	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap]
rs7141949	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs7143560	0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap]
rs7152487	0.83[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs7161103	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap]
rs7161274	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs754314	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap]
rs8011852	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs8014574	0.92[CHB][hapmap];0.87[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56587400-56596000	Weak transcription	Right Atrium	heart
2	chr14:56587400-56599200	Weak transcription	Colonic Mucosa	Colon
3	chr14:56587600-56595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:56587600-56595800	Weak transcription	Left Ventricle	heart
5	chr14:56587600-56595800	Weak transcription	Right Ventricle	heart
6	chr14:56587600-56595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:56587600-56596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:56587600-56596200	Weak transcription	Fetal Stomach	stomach
9	chr14:56587600-56596200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:56587600-56597000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:56587600-56598000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:56588200-56595800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:56589200-56596000	Weak transcription	Adipose Nuclei	Adipose
14	chr14:56589400-56596000	Weak transcription	Primary B cells from cord blood	blood
15	chr14:56589400-56596200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:56590200-56597000	Enhancers	Thymus	Thymus
17	chr14:56590400-56595800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:56590600-56595600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:56591000-56599600	Enhancers	Fetal Thymus	thymus
20	chr14:56591200-56596200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:56591200-56597000	Enhancers	Fetal Brain Male	brain
22	chr14:56591400-56595400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:56591600-56595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:56591600-56596200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:56591600-56596200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:56591600-56596600	Weak transcription	Fetal Lung	lung
27	chr14:56591600-56598200	Weak transcription	Fetal Kidney	kidney
28	chr14:56591800-56595400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:56592000-56595800	Weak transcription	Spleen	Spleen
30	chr14:56592000-56597800	Weak transcription	Aorta	Aorta
31	chr14:56592000-56598800	Weak transcription	NHLF	lung
32	chr14:56592000-56601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:56592200-56595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:56592400-56599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:56592400-56600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:56592600-56595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:56592600-56596000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:56592600-56597200	Enhancers	Pancreas	Pancrea
39	chr14:56592800-56596200	Enhancers	Dnd41	blood
40	chr14:56593000-56595400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:56593000-56595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:56593000-56596200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:56593000-56596600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:56593200-56596400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:56593200-56612800	Weak transcription	Brain Angular Gyrus	brain
46	chr14:56593400-56596400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:56593600-56596000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr14:56593600-56596000	Weak transcription	Esophagus	oesophagus
49	chr14:56593600-56596600	Enhancers	Fetal Brain Female	brain
50	chr14:56593600-56598200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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