Variant report

Variant	rs17829281
Chromosome Location	chr14:69063075-69063076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69061025..69063576-chr14:69260418..69262732,3	K562	blood:
2	chr14:69061649..69064436-chr14:69261029..69262556,2	MCF-7	breast:
3	chr14:69058975..69063835-chr14:69063915..69067303,5	MCF-7	breast:
4	chr14:69059475..69061008-chr14:69062632..69064559,2	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10143428	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10149893	1.00[CHB][hapmap]
rs11623966	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11627234	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11628293	1.00[CHB][hapmap]
rs11629144	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17105940	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17105965	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17106069	1.00[CHB][hapmap]
rs17834977	1.00[CHB][hapmap]
rs2145151	1.00[ASN][1000 genomes]
rs4420467	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4516148	1.00[CHB][hapmap]
rs61095830	1.00[ASN][1000 genomes]
rs61987060	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6573843	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7140546	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7143663	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs739874	1.00[CHB][hapmap]
rs8009398	1.00[CHB][hapmap]
rs8009601	1.00[CHB][hapmap]
rs999737	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17829281	PIGH	cis	parietal	SCAN
rs17829281	MPP5	cis	parietal	SCAN
rs17829281	C14orf162	cis	parietal	SCAN
rs17829281	ACTN1	cis	cerebellum	SCAN
rs17829281	RDH11	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69049800-69064000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69052800-69064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:69053400-69064800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:69054200-69063400	Weak transcription	Small Intestine	intestine
5	chr14:69057000-69065800	Weak transcription	Gastric	stomach
6	chr14:69057200-69063400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:69057400-69064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:69057600-69063400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:69057600-69063400	Weak transcription	Right Atrium	heart
10	chr14:69057600-69065200	Weak transcription	Lung	lung
11	chr14:69057600-69065800	Weak transcription	Left Ventricle	heart
12	chr14:69057800-69064800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:69058600-69065200	Weak transcription	Esophagus	oesophagus
14	chr14:69058800-69065000	Weak transcription	Ovary	ovary
15	chr14:69059000-69063400	Weak transcription	Right Ventricle	heart
16	chr14:69059400-69063800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:69059600-69064800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:69059800-69063200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:69060000-69065000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:69060200-69064400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr14:69060200-69068200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:69060400-69063800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:69060800-69064800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:69060800-69065000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:69061200-69063200	Weak transcription	NH-A	brain
26	chr14:69061200-69064800	Weak transcription	NHLF	lung
27	chr14:69061200-69065000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:69061200-69065000	Weak transcription	Osteobl	bone
29	chr14:69061200-69065200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:69061200-69065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
32	chr14:69061400-69063400	Weak transcription	Adipose Nuclei	Adipose
33	chr14:69061400-69063800	Weak transcription	Fetal Intestine Large	intestine
34	chr14:69061400-69064600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:69061400-69064800	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:69061400-69064800	Weak transcription	Fetal Lung	lung
37	chr14:69061400-69064800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:69061400-69065000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:69061400-69065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:69061600-69063400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:69061600-69063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:69061600-69063600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:69061600-69064600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr14:69061600-69065000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:69061600-69065800	Weak transcription	Spleen	Spleen
46	chr14:69061800-69063200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:69061800-69063200	Weak transcription	Placenta	Placenta
48	chr14:69061800-69063400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:69061800-69063400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:69061800-69063400	Weak transcription	Fetal Stomach	stomach

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