Variant report

Variant	rs17191485
Chromosome Location	chr14:97348184-97348185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97347013..97350002-chr14:97352064..97354916,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11622799	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1385551	1.00[CHB][hapmap]
rs17686657	1.00[CHB][hapmap]
rs61981026	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011580	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs8013300	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17191485	IFI27	cis	cerebellum	SCAN
rs17191485	VRK1	cis	parietal	SCAN
rs17191485	VRK1	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:97298800-97348800	Strong transcription	Dnd41	blood
4	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:97303400-97371600	Weak transcription	Ovary	ovary
7	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
8	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:97315600-97350400	Weak transcription	NHDF-Ad	bronchial
10	chr14:97322000-97348400	Weak transcription	HSMM	muscle
11	chr14:97322200-97354200	Weak transcription	Hela-S3	cervix
12	chr14:97323800-97354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:97324000-97350800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:97324000-97352600	Weak transcription	HMEC	breast
15	chr14:97324200-97348400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:97324200-97350600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:97324200-97354200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:97325200-97353800	Weak transcription	Fetal Lung	lung
19	chr14:97325200-97354600	Weak transcription	Thymus	Thymus
20	chr14:97325600-97362000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:97331000-97378400	Weak transcription	A549	lung
22	chr14:97333000-97348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:97337400-97354200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:97338400-97355200	Weak transcription	Psoas Muscle	Psoas
25	chr14:97338600-97348200	Weak transcription	Small Intestine	intestine
26	chr14:97340200-97350400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:97340800-97348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:97340800-97348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:97341000-97354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:97341400-97357400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:97342400-97349200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:97342800-97348600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:97342800-97354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:97342800-97367000	Weak transcription	NHEK	skin
35	chr14:97343000-97350400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:97343000-97350800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:97343200-97354600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:97343400-97350600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:97343600-97348400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:97344200-97348600	Weak transcription	Primary T cells from cord blood	blood
41	chr14:97344200-97350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:97344200-97351000	Weak transcription	Left Ventricle	heart
43	chr14:97344200-97353200	Weak transcription	K562	blood
44	chr14:97345200-97353400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:97346400-97349400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:97346400-97349400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr14:97346600-97348200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:97346600-97348600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:97346600-97349000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:97346600-97349200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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