Variant report

Variant	rs17105965
Chromosome Location	chr14:69069594-69069595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69068555..69070348-chr14:69070905..69073728,2	K562	blood:
2	chr14:69067505..69070348-chr14:69070905..69074097,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12590536	1.00[JPT][hapmap]
rs17105940	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829281	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284053	0.85[ASN][1000 genomes]
rs8006141	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv902069	chr14:69068384-69077457	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv516614	chr14:69069594-69077457	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17105965	ACTN1	cis	cerebellum	SCAN
rs17105965	C14orf162	cis	parietal	SCAN
rs17105965	MAX	cis	parietal	SCAN
rs17105965	MPP5	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
2	chr14:69061800-69070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69062200-69073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:69064400-69070800	Enhancers	Fetal Intestine Large	intestine
5	chr14:69066000-69070600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:69066000-69070600	Enhancers	Fetal Intestine Small	intestine
7	chr14:69066000-69071200	Weak transcription	Esophagus	oesophagus
8	chr14:69066000-69073800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:69066200-69070200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:69066200-69070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:69066200-69070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:69066400-69072600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:69066400-69073800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:69066600-69070000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:69066600-69070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:69066600-69070400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:69066600-69070800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:69066800-69070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:69066800-69072200	Weak transcription	Brain Substantia Nigra	brain
20	chr14:69066800-69072200	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:69067000-69072800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:69067000-69074000	Weak transcription	Spleen	Spleen
23	chr14:69067200-69069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:69067200-69070200	Weak transcription	Fetal Thymus	thymus
25	chr14:69067200-69072400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:69067200-69072600	Weak transcription	Colonic Mucosa	Colon
27	chr14:69067200-69072600	Weak transcription	Left Ventricle	heart
28	chr14:69067200-69072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:69067200-69072800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:69067200-69073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:69067200-69073400	Weak transcription	Fetal Lung	lung
32	chr14:69067200-69073400	Weak transcription	Right Ventricle	heart
33	chr14:69067200-69073400	Weak transcription	Stomach Mucosa	stomach
34	chr14:69067200-69073800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:69067200-69074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:69067400-69070400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:69067400-69073800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:69067600-69069600	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:69067600-69069800	Weak transcription	Adipose Nuclei	Adipose
40	chr14:69067600-69070000	Weak transcription	Fetal Kidney	kidney
41	chr14:69067600-69070200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:69067600-69073000	Weak transcription	Right Atrium	heart
43	chr14:69067600-69074400	Weak transcription	Small Intestine	intestine
44	chr14:69067800-69073400	Weak transcription	Fetal Brain Female	brain
45	chr14:69068000-69070600	Weak transcription	Fetal Stomach	stomach
46	chr14:69068200-69069800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:69068200-69073600	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:69068200-69073800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:69068600-69069600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr14:69068800-69069800	Weak transcription	HepG2	liver

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