Variant report

Variant	rs12147118
Chromosome Location	chr14:81652975-81652976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81651257..81653411-chr14:81683481..81686410,2	MCF-7	breast:
2	chr14:81643246..81655314-chr14:81683241..81689401,24	K562	blood:
3	chr14:81649228..81655392-chr14:81682762..81688409,10	K562	blood:
4	chr14:81647751..81650741-chr14:81651817..81654403,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10133562	0.82[CHD][hapmap]
rs10149681	0.93[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1035948	0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs11621116	0.80[CHB][hapmap]
rs12590764	0.93[ASN][1000 genomes]
rs1864167	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs1864169	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1885601	0.87[CHD][hapmap]
rs1951614	0.86[CHD][hapmap]
rs1951616	0.95[ASN][1000 genomes]
rs1957546	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1991516	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2099108	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241621	0.81[CHB][hapmap]
rs2288497	0.80[ASN][1000 genomes]
rs2288498	0.98[ASN][1000 genomes]
rs2288499	0.86[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs28890880	0.88[ASN][1000 genomes]
rs3815953	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs4363794	0.97[ASN][1000 genomes]
rs6574631	0.86[CHB][hapmap];0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs7142641	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7144005	0.98[ASN][1000 genomes]
rs7148100	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7149672	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161073	0.86[CHB][hapmap]
rs759939	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs8004096	0.91[ASN][1000 genomes]
rs8006036	0.95[ASN][1000 genomes]
rs8007841	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010219	0.92[ASN][1000 genomes]
rs8011097	0.93[ASN][1000 genomes]
rs8014406	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8016352	0.94[ASN][1000 genomes]
rs8016982	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021125	0.93[ASN][1000 genomes]
rs8021385	0.93[ASN][1000 genomes]
rs9646167	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs9806020	0.87[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9806027	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12147118	C14orf145	cis	parietal	SCAN
rs12147118	STON2	cis	parietal	SCAN
rs12147118	GSTZ1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
2	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
3	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
5	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
7	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
8	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:81637400-81656800	Weak transcription	HMEC	breast
11	chr14:81637400-81658800	Weak transcription	Fetal Brain Male	brain
12	chr14:81637400-81659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
14	chr14:81639400-81653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:81640000-81657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:81640000-81658800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:81642400-81658800	Weak transcription	Pancreas	Pancrea
18	chr14:81643600-81654200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:81643600-81658800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:81644000-81655400	Strong transcription	Dnd41	blood
22	chr14:81644200-81658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:81644600-81655400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:81644600-81658200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:81644600-81658600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:81644600-81658800	Weak transcription	Brain Angular Gyrus	brain
28	chr14:81644600-81666400	Weak transcription	Stomach Mucosa	stomach
29	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
30	chr14:81644800-81675600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:81645000-81658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:81645200-81655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:81645400-81653200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:81645600-81653800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:81645600-81654800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:81646000-81664800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:81646200-81653400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:81646200-81654200	Strong transcription	Fetal Thymus	thymus
39	chr14:81646200-81674800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:81646800-81654600	Strong transcription	Primary B cells from cord blood	blood
41	chr14:81647200-81653400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:81647200-81664600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:81647200-81674400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr14:81647400-81674600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:81647600-81653000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:81647600-81654200	Weak transcription	K562	blood
47	chr14:81647600-81656200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:81648000-81655400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:81648000-81671400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr14:81648200-81653000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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