Variant report

Variant	rs242388
Chromosome Location	chr14:56591548-56591549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56582271..56586215-chr14:56587946..56591679,3	MCF-7	breast:
2	chr14:56591173..56593665-chr14:56598218..56600855,2	MCF-7	breast:
3	chr14:56584592..56587325-chr14:56590331..56593960,3	K562	blood:

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1046597	1.00[ASW][hapmap];0.88[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2343374	0.88[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241515	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241516	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241517	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs241519	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs241548	0.88[EUR][1000 genomes]
rs241550	0.85[EUR][1000 genomes]
rs241557	0.86[EUR][1000 genomes]
rs241559	0.85[EUR][1000 genomes]
rs241560	0.88[EUR][1000 genomes]
rs242387	0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3912202	0.88[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61987018	0.81[AFR][1000 genomes]
rs7157440	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs242388	PELI2	cis	parietal	SCAN
rs242388	ERO1L	cis	parietal	SCAN
rs242388	C14orf166	cis	cerebellum	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56587400-56591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:56587400-56592800	Weak transcription	Esophagus	oesophagus
3	chr14:56587400-56596000	Weak transcription	Right Atrium	heart
4	chr14:56587400-56599200	Weak transcription	Colonic Mucosa	Colon
5	chr14:56587600-56591600	Weak transcription	Spleen	Spleen
6	chr14:56587600-56591800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:56587600-56592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:56587600-56592000	Enhancers	Colon Smooth Muscle	Colon
9	chr14:56587600-56592000	Enhancers	NHDF-Ad	bronchial
10	chr14:56587600-56592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:56587600-56592400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:56587600-56592400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:56587600-56592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:56587600-56592600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:56587600-56593200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr14:56587600-56595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:56587600-56595800	Weak transcription	Left Ventricle	heart
18	chr14:56587600-56595800	Weak transcription	Right Ventricle	heart
19	chr14:56587600-56595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:56587600-56596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:56587600-56596200	Weak transcription	Fetal Stomach	stomach
22	chr14:56587600-56596200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:56587600-56597000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:56587600-56598000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:56587800-56592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:56588000-56592400	Weak transcription	Brain Substantia Nigra	brain
27	chr14:56588200-56591800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:56588200-56592400	Weak transcription	Brain Anterior Caudate	brain
29	chr14:56588200-56595800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:56588600-56593200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:56588800-56592400	Weak transcription	Brain Angular Gyrus	brain
32	chr14:56589200-56596000	Weak transcription	Adipose Nuclei	Adipose
33	chr14:56589400-56596000	Weak transcription	Primary B cells from cord blood	blood
34	chr14:56589400-56596200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:56589600-56594400	Enhancers	Brain Hippocampus Middle	brain
36	chr14:56589800-56591600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr14:56589800-56592400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:56589800-56595000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr14:56590200-56592000	Enhancers	NHLF	lung
40	chr14:56590200-56592600	Enhancers	HSMMtube	muscle
41	chr14:56590200-56592800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:56590200-56593400	Enhancers	Stomach Mucosa	stomach
43	chr14:56590200-56597000	Enhancers	Thymus	Thymus
44	chr14:56590400-56591600	Enhancers	Fetal Lung	lung
45	chr14:56590400-56592200	Enhancers	Fetal Intestine Small	intestine
46	chr14:56590400-56594000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:56590400-56595800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr14:56590600-56592400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:56590600-56592800	Enhancers	Fetal Brain Female	brain
50	chr14:56590600-56593000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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