Variant report

Variant	rs8006141
Chromosome Location	chr14:69070898-69070899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69069857..69071530-chr14:69072196..69073805,2	MCF-7	breast:
2	chr14:69063634..69066048-chr14:69070455..69072811,2	K562	blood:
3	chr14:69070456..69072481-chr14:69073546..69076454,2	K562	blood:
4	chr14:69065107..69068379-chr14:69069760..69071455,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXD2-3	chr14:69070537-69071064	NONHSAT037488

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17105940	0.82[CHD][hapmap]
rs17105965	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8006141	C14orf162	cis	parietal	SCAN
rs8006141	PIGH	cis	parietal	SCAN
rs8006141	ACTN1	cis	cerebellum	SCAN
rs8006141	RDH11	cis	parietal	SCAN
rs8006141	MPP5	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
2	chr14:69062200-69073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:69066000-69071200	Weak transcription	Esophagus	oesophagus
4	chr14:69066000-69073800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:69066400-69072600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:69066400-69073800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:69066800-69072200	Weak transcription	Brain Substantia Nigra	brain
8	chr14:69066800-69072200	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:69067000-69072800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:69067000-69074000	Weak transcription	Spleen	Spleen
11	chr14:69067200-69072400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:69067200-69072600	Weak transcription	Colonic Mucosa	Colon
13	chr14:69067200-69072600	Weak transcription	Left Ventricle	heart
14	chr14:69067200-69072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:69067200-69072800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:69067200-69073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:69067200-69073400	Weak transcription	Fetal Lung	lung
18	chr14:69067200-69073400	Weak transcription	Right Ventricle	heart
19	chr14:69067200-69073400	Weak transcription	Stomach Mucosa	stomach
20	chr14:69067200-69073800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:69067200-69074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:69067400-69073800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:69067600-69073000	Weak transcription	Right Atrium	heart
24	chr14:69067600-69074400	Weak transcription	Small Intestine	intestine
25	chr14:69067800-69073400	Weak transcription	Fetal Brain Female	brain
26	chr14:69068200-69073600	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:69068200-69073800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:69068800-69073600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:69069000-69072600	Weak transcription	Pancreas	Pancrea
30	chr14:69069200-69072400	Weak transcription	Gastric	stomach
31	chr14:69069600-69080000	Enhancers	Fetal Muscle Leg	muscle
32	chr14:69069800-69071200	Enhancers	Adipose Nuclei	Adipose
33	chr14:69069800-69071800	Enhancers	HepG2	liver
34	chr14:69070000-69071600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:69070200-69071000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:69070200-69071000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:69070200-69071200	Enhancers	Fetal Thymus	thymus
38	chr14:69070400-69071000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:69070400-69071000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:69070400-69071600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:69070400-69072000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr14:69070400-69077400	Enhancers	Fetal Muscle Trunk	muscle
43	chr14:69070600-69071000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr14:69070600-69071000	Genic enhancers	Fetal Intestine Small	intestine
45	chr14:69070600-69071000	Genic enhancers	Fetal Stomach	stomach
46	chr14:69070600-69074000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:69070800-69071400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:69070800-69073000	Weak transcription	Fetal Kidney	kidney
49	chr14:69070800-69073800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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