Variant report

Variant	rs55980525
Chromosome Location	chr14:65167121-65167122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65167105-65167155	HMEC	breast:	n/a
2	chr14:65167105-65167155	SK-N-SH_RA	brain:	n/a
3	chr14:65167105-65167155	HPAEpiC	pulmonary alveolar:	n/a
4	chr14:65167105-65167155	A549	lung:	n/a
5	chr14:65167105-65167155	U87	brain:	n/a
6	chr14:65167105-65167155	SAEC	small airway:	n/a
7	chr14:65167105-65167155	T-47D	breast:	n/a
8	chr14:65167105-65167155	IMR90	lung:	fetal
9	chr14:65167105-65167155	AG10803	skin:	n/a
10	chr14:65167105-65167155	PANC-1	pancreas:	n/a
11	chr14:65167105-65167155	HRPEpiC	eye:	n/a
12	chr14:65167105-65167155	BJ	skin:	n/a
13	chr14:65167105-65167155	HepG2	liver:	n/a
14	chr14:65167105-65167155	SK-N-MC	brain:	n/a
15	chr14:65167105-65167155	HAEpiC	amniotic membrane:	n/a
16	chr14:65167105-65167155	NHDF-neo	bronchial:	n/a
17	chr14:65167105-65167155	PFSK-1	brain:	n/a
18	chr14:65167105-65167155	GM06990	blood:	n/a
19	chr14:65167105-65167155	CMK	blood:	n/a
20	chr14:65167105-65167155	Jurkat	blood:	n/a
21	chr14:65167105-65167155	NHBE	bronchial:	n/a
22	chr14:65167105-65167155	AG09309	skin:	n/a
23	chr14:65167105-65167155	AoSMC	blood vessel:	n/a
24	chr14:65167105-65167155	AG09319	gingival:	n/a
25	chr14:65167105-65167155	Caco-2	colon:	n/a
26	chr14:65167105-65167155	LNCaP	prostate:	n/a
27	chr14:65167105-65167155	HCPEpiC	choroid plexus:	n/a
28	chr14:65167105-65167155	GM19239	blood:	n/a
29	chr14:65167105-65167155	ProgFib	skin:	n/a
30	chr14:65167105-65167155	MCF-7	breast:	n/a
31	chr14:65167105-65167155	HCF	heart:	n/a
32	chr14:65167105-65167155	Hela-S3	cervix:	n/a
33	chr14:65167105-65167155	HNPCEpiC	eye:	n/a
34	chr14:65167105-65167155	HEEpiC	esophagus:	n/a
35	chr14:65167105-65167155	SKMC	muscle:	n/a
36	chr14:65167105-65167155	HCT-116	colon:	n/a
37	chr14:65167105-65167155	NH-A	brain:	n/a
38	chr14:65167105-65167155	HUVEC	blood vessel:	n/a
39	chr14:65167105-65167155	ECC-1	luminal epithelium:	n/a
40	chr14:65167105-65167155	GM12892	blood:	n/a
41	chr14:65167105-65167155	NB4	blood:	n/a
42	chr14:65167105-65167155	MCF10A-Er-Src	breast:	n/a
43	chr14:65167105-65167155	HIPEpiC	eye:	n/a
44	chr14:65167105-65167155	GM12891	blood:	n/a
45	chr14:65167105-65167155	H1-hESC	embryonic stem cell:	embryo
46	chr14:65167105-65167155	AG04449	skin:	fetal
47	chr14:65167105-65167155	HRCEpiC	kidney:	n/a
48	chr14:65167105-65167155	NT2-D1	testis:	n/a
49	chr14:65167105-65167155	SK-N-SH	brain:	n/a
50	chr14:65167105-65167155	K562	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65145652..65150075-chr14:65165666..65170172,5	MCF-7	breast:
2	chr14:65155979..65158018-chr14:65167048..65169537,2	MCF-7	breast:
3	chr14:65166002..65169038-chr14:65170333..65174103,5	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHG3	CpG island
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10130553	0.92[AFR][1000 genomes]
rs10133196	1.00[AFR][1000 genomes]
rs10147290	0.92[AFR][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65149400-65169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65160000-65168400	Weak transcription	HMEC	breast
3	chr14:65160000-65168600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65161200-65169200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:65161400-65168200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:65161800-65168400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:65162000-65167600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:65162200-65169800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:65163200-65170600	Weak transcription	Right Ventricle	heart
10	chr14:65163400-65167400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:65163400-65170400	Weak transcription	Left Ventricle	heart
12	chr14:65163400-65170600	Weak transcription	Right Atrium	heart
13	chr14:65163600-65168200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:65163600-65170000	Weak transcription	Fetal Heart	heart
15	chr14:65163800-65169600	Weak transcription	Colonic Mucosa	Colon
16	chr14:65164200-65168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:65164400-65167200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:65165400-65167200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:65165600-65167600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:65165800-65168000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:65165800-65169400	Weak transcription	Adipose Nuclei	Adipose
22	chr14:65166000-65167600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:65166000-65167600	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:65166000-65167800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:65166000-65167800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:65166000-65167800	Weak transcription	Fetal Kidney	kidney
27	chr14:65166000-65168800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:65166000-65169200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:65166000-65169200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:65166000-65170000	Weak transcription	Liver	Liver
31	chr14:65166000-65170200	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:65166200-65167200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:65166200-65167200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:65166200-65167200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:65166200-65167400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:65166200-65167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:65166200-65167800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:65166200-65168200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:65166200-65168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:65166200-65169200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:65166200-65170400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:65166400-65167200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:65166400-65167800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:65166400-65168200	Weak transcription	A549	lung
45	chr14:65166400-65168400	Weak transcription	NHEK	skin
46	chr14:65166400-65169200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:65166400-65169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:65166600-65168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:65166600-65169200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:65166600-65169200	Weak transcription	Fetal Intestine Small	intestine

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