Variant report

Variant	rs17104357
Chromosome Location	chr14:67935206-67935207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12435581	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv902067	chr14:67935206-67953848	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17104357	C14orf50	cis	cerebellum	SCAN
rs17104357	FAM71D	cis	cerebellum	SCAN
rs17104357	EXD2	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67927800-67935400	Enhancers	Fetal Thymus	thymus
2	chr14:67928800-67946600	Weak transcription	Pancreas	Pancrea
3	chr14:67929600-67942600	Weak transcription	Lung	lung
4	chr14:67929800-67938600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:67930400-67935400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:67931200-67939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:67931400-67939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:67931800-67938600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:67932000-67939600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:67932800-67937600	Weak transcription	Primary T cells from cord blood	blood
11	chr14:67932800-67939200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:67932800-67940000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:67933000-67954400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:67933200-67939400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:67933800-67935400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:67933800-67935400	Enhancers	Fetal Intestine Large	intestine
17	chr14:67933800-67935600	Enhancers	Fetal Intestine Small	intestine
18	chr14:67934000-67935400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:67934000-67936400	Weak transcription	Small Intestine	intestine
20	chr14:67934400-67939400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:67934600-67938800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:67934600-67939000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:67934600-67950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:67934800-67939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:67934800-67946800	Weak transcription	Placenta	Placenta
26	chr14:67935000-67935400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
28	chr14:67935200-67935400	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:67935200-67935400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr14:67935200-67936600	Weak transcription	Colonic Mucosa	Colon
31	chr14:67935200-67937800	Weak transcription	Thymus	Thymus
32	chr14:67935200-67938400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:67935200-67946800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:67935200-67952200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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