Variant report

Variant	rs17750140
Chromosome Location	chr14:77653798-77653799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77649385..77652123-chr14:77652331..77653941,2	K562	blood:
2	chr14:77561745..77563931-chr14:77653377..77655172,2	MCF-7	breast:
3	chr14:77652279..77654027-chr14:77769352..77771008,2	MCF-7	breast:
4	chr14:77653496..77656374-chr14:77924013..77925572,2	MCF-7	breast:
5	chr14:77653324..77656193-chr14:77787272..77789183,2	K562	blood:

Variant related genes	Relation type
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10143567	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1504522	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17105476	0.93[ASN][1000 genomes]
rs2021536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2287380	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes]
rs2540887	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2540891	0.82[EUR][1000 genomes]
rs2540893	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2540894	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2540895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540901	0.91[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2655976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2655977	0.82[EUR][1000 genomes]
rs34002218	0.82[EUR][1000 genomes]
rs34970502	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs367095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs374227	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs376645	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs380489	1.00[CHB][hapmap]
rs382670	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs382868	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs384204	1.00[CHB][hapmap]
rs396750	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs404418	1.00[AFR][1000 genomes]
rs419630	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes]
rs419869	1.00[AFR][1000 genomes]
rs428868	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs451303	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4903561	1.00[CEU][hapmap]
rs71413450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs727921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs750932	0.90[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8010477	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs905734	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs905735	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17750140	TMEM63C	cis	Whole Blood	GTEx
rs17750140	ACCN2	cis	Temporal Cortex	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77648800-77654800	Weak transcription	Right Atrium	heart
2	chr14:77649000-77655000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:77649200-77654600	Enhancers	Fetal Intestine Large	intestine
4	chr14:77650400-77654200	Enhancers	Esophagus	oesophagus
5	chr14:77650600-77654000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:77651400-77655000	Enhancers	Colonic Mucosa	Colon
7	chr14:77651800-77654000	Weak transcription	Spleen	Spleen
8	chr14:77651800-77659000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr14:77652000-77654800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:77652200-77654400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:77652600-77654000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:77652800-77654400	Enhancers	Fetal Intestine Small	intestine
13	chr14:77653000-77654000	Enhancers	Fetal Heart	heart
14	chr14:77653000-77654200	Enhancers	Right Ventricle	heart
15	chr14:77653000-77654200	Enhancers	HSMM	muscle
16	chr14:77653000-77654400	Enhancers	Fetal Brain Male	brain
17	chr14:77653000-77654600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:77653000-77654600	Enhancers	Pancreas	Pancrea
19	chr14:77653000-77654600	Enhancers	NH-A	brain
20	chr14:77653200-77653800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:77653200-77653800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:77653200-77653800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr14:77653200-77653800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:77653200-77653800	Genic enhancers	Fetal Brain Female	brain
25	chr14:77653200-77653800	Enhancers	Fetal Muscle Leg	muscle
26	chr14:77653200-77653800	Enhancers	HMEC	breast
27	chr14:77653200-77654000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr14:77653200-77654000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:77653200-77654000	Enhancers	Brain Anterior Caudate	brain
30	chr14:77653200-77654000	Genic enhancers	Brain Germinal Matrix	brain
31	chr14:77653200-77654000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:77653200-77654000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr14:77653200-77654000	Enhancers	HSMMtube	muscle
34	chr14:77653200-77654200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:77653200-77654200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:77653200-77654200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:77653200-77654400	Flanking Active TSS	HepG2	liver
38	chr14:77653200-77654600	Enhancers	Ovary	ovary
39	chr14:77653400-77654000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr14:77653400-77654000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:77653400-77654000	Enhancers	Brain Angular Gyrus	brain
42	chr14:77653400-77654000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr14:77653400-77654000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr14:77653400-77654200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr14:77653400-77654200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:77653600-77654000	Enhancers	Left Ventricle	heart
47	chr14:77653600-77654200	Enhancers	Placenta	Placenta
48	chr14:77653600-77654400	Enhancers	Lung	lung
49	chr14:77653600-77662000	Weak transcription	Brain Inferior Temporal Lobe	brain

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