Variant report

Variant	rs1953356
Chromosome Location	chr14:56150151-56150152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56149406..56151839-chr14:56154721..56157088,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10136386	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs10136408	0.82[JPT][hapmap]
rs12891489	0.82[JPT][hapmap]
rs34872770	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3736877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783654	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011732	0.81[JPT][hapmap]
rs942317	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1953356	FBXO34	cis	parietal	SCAN
rs1953356	CNIH	cis	cerebellum	SCAN
rs1953356	KTN1	cis	parietal	SCAN
rs1953356	GCH1	cis	cerebellum	SCAN
rs1953356	KTN1	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56088400-56153200	Weak transcription	Gastric	stomach
2	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
4	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
5	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:56122400-56152600	Weak transcription	Esophagus	oesophagus
11	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
12	chr14:56129800-56152000	Weak transcription	Aorta	Aorta
13	chr14:56133400-56153400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr14:56134000-56155000	Strong transcription	HSMM	muscle
15	chr14:56134200-56153600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:56134600-56154200	Strong transcription	Liver	Liver
17	chr14:56135000-56153400	Strong transcription	Placenta	Placenta
18	chr14:56135200-56152800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:56135200-56153600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:56136600-56154200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:56136800-56153800	Strong transcription	Dnd41	blood
22	chr14:56136800-56154200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:56137000-56153600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr14:56137000-56153800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr14:56137000-56154200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr14:56137200-56153600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:56137200-56154000	Strong transcription	Primary B cells from cord blood	blood
28	chr14:56137400-56153800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:56137400-56154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:56137400-56154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:56137400-56155000	Strong transcription	Adipose Nuclei	Adipose
32	chr14:56138600-56151600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:56138600-56155200	Strong transcription	A549	lung
34	chr14:56138800-56153600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:56141400-56154400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
37	chr14:56144200-56150800	Strong transcription	Fetal Thymus	thymus
38	chr14:56144800-56153800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:56145000-56150800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:56145000-56152600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:56145000-56153600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:56145000-56153600	Strong transcription	NH-A	brain
43	chr14:56145200-56153800	Strong transcription	HUVEC	blood vessel
44	chr14:56145400-56151000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr14:56145600-56152800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:56145600-56154000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:56145800-56151400	Weak transcription	Fetal Stomach	stomach
48	chr14:56145800-56151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:56145800-56152000	Weak transcription	Brain Angular Gyrus	brain
50	chr14:56145800-56152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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