Variant report

Variant	rs17671345
Chromosome Location	chr14:55304671-55304672
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55304408..55306842-chr14:55369413..55371033,2	MCF-7	breast:
2	chr14:55303907..55306505-chr14:55308047..55309664,2	K562	blood:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10498472	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17253577	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17253591	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17832263	0.91[CEU][hapmap]
rs2878169	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55786710	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56130647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156475	0.91[CEU][hapmap];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17671345	WDHD1	Cis_1M	lymphoblastoid	RTeQTL
rs17671345	EXOC5	cis	cerebellum	SCAN
rs17671345	BMP4	cis	parietal	SCAN
rs17671345	CDKL1	cis	parietal	SCAN
rs17671345	PYGL	cis	cerebellum	SCAN
rs17671345	FBXO34	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55293800-55306400	Weak transcription	Aorta	Aorta
2	chr14:55299200-55308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55300400-55305800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:55301000-55305600	Enhancers	Liver	Liver
5	chr14:55301000-55305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:55301000-55310000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:55301800-55306000	Enhancers	HepG2	liver
8	chr14:55301800-55306400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:55303200-55306600	Enhancers	Fetal Intestine Small	intestine
10	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:55304000-55305600	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55304000-55305800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:55304000-55306800	Enhancers	Fetal Intestine Large	intestine
14	chr14:55304200-55305800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:55304200-55306400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:55304400-55306000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:55304400-55306000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:55304400-55307200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:55304600-55304800	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:55304600-55304800	Enhancers	Lung	lung
21	chr14:55304600-55307000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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