Variant report

Variant	rs17761563
Chromosome Location	chr14:56593787-56593788
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	chr14:56584592..56587325-chr14:56590331..56593960,3	K562	blood:

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10144612	1.00[CHD][hapmap]
rs1427556	1.00[CHD][hapmap]
rs17091123	0.84[MEX][hapmap]
rs17688725	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs17688801	1.00[CHD][hapmap];0.90[GIH][hapmap]
rs17689278	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs17762499	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs17762733	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs1951955	0.89[YRI][hapmap]
rs2035283	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs2343376	1.00[CHD][hapmap];0.90[GIH][hapmap]
rs2880615	1.00[CHD][hapmap];0.90[GIH][hapmap]
rs4127813	1.00[CHD][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];0.81[YRI][hapmap]
rs7143560	0.84[MEX][hapmap]
rs7152487	0.84[MEX][hapmap]
rs8014574	0.84[MEX][hapmap]

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	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17761563	FBXO34	cis	cerebellum	SCAN
rs17761563	PSMC6	cis	cerebellum	SCAN
rs17761563	ERO1L	cis	parietal	SCAN
rs17761563	ERO1L	cis	cerebellum	SCAN
rs17761563	PTGER2	cis	cerebellum	SCAN
rs17761563	C14orf166	cis	cerebellum	SCAN

Chromatin state (count:78 , 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	chr14:56589600-56594400	Enhancers	Brain Hippocampus Middle	brain
17	chr14:56589800-56595000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:56590200-56597000	Enhancers	Thymus	Thymus
19	chr14:56590400-56594000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:56590400-56595800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:56590600-56595600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:56590800-56594000	Weak transcription	Primary T cells from cord blood	blood
23	chr14:56591000-56599600	Enhancers	Fetal Thymus	thymus
24	chr14:56591200-56596200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:56591200-56597000	Enhancers	Fetal Brain Male	brain
26	chr14:56591400-56595400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:56591600-56595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:56591600-56596200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:56591600-56596200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:56591600-56596600	Weak transcription	Fetal Lung	lung
31	chr14:56591600-56598200	Weak transcription	Fetal Kidney	kidney
32	chr14:56591800-56595400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:56592000-56594400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:56592000-56595800	Weak transcription	Spleen	Spleen
35	chr14:56592000-56597800	Weak transcription	Aorta	Aorta
36	chr14:56592000-56598800	Weak transcription	NHLF	lung
37	chr14:56592000-56601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:56592200-56595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:56592400-56594200	Enhancers	Brain Anterior Caudate	brain
40	chr14:56592400-56594200	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr14:56592400-56594400	Enhancers	Brain Substantia Nigra	brain
42	chr14:56592400-56599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:56592400-56600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:56592600-56593800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:56592600-56594200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:56592600-56595200	Weak transcription	Fetal Intestine Small	intestine
47	chr14:56592600-56595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:56592600-56596000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:56592600-56597200	Enhancers	Pancreas	Pancrea
50	chr14:56592800-56595000	Weak transcription	Duodenum Mucosa	Duodenum

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