Variant report

Variant	rs3815953
Chromosome Location	chr14:81685482-81685483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:81685447..81686025-chr17:15902581..15903119,2	Hela-S3	cervix:
2	chr14:81409086..81412079-chr14:81684654..81686943,2	K562	blood:
3	chr14:81684359..81686133-chr14:81846262..81848030,2	K562	blood:
4	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:
5	chr14:81683389..81688783-chr14:81897521..81903580,11	MCF-7	breast:
6	chr14:81635245..81640402-chr14:81683793..81689293,8	MCF-7	breast:
7	chr14:81684709..81688864-chr14:81899235..81906709,16	MCF-7	breast:
8	chr14:81574238..81576394-chr14:81685477..81688391,2	K562	blood:
9	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
10	chr14:81683547..81687186-chr14:81935321..81938414,4	K562	blood:
11	chr14:81665997..81674006-chr14:81683759..81689461,17	MCF-7	breast:
12	chr14:81685399..81686239-chr16:778196..779143,2	HCT-116	colon:
13	chr14:81685150..81685963-chr2:191513119..191513625,2	Hela-S3	cervix:
14	chr14:81684632..81686408-chr6:42713081..42715473,2	MCF-7	breast:
15	chr14:81651257..81653411-chr14:81683481..81686410,2	MCF-7	breast:
16	chr14:81434370..81436740-chr14:81683438..81686246,2	MCF-7	breast:
17	chr14:81684559..81686962-chr14:81944393..81946438,2	MCF-7	breast:
18	chr14:81683880..81685720-chr14:81936272..81938453,2	MCF-7	breast:
19	chr14:81684235..81687113-chr14:81978214..81980524,2	MCF-7	breast:
20	chr14:81684768..81687398-chr14:81789719..81791458,3	MCF-7	breast:
21	chr14:81316288..81318355-chr14:81684357..81686706,2	K562	blood:
22	chr14:81685182..81687024-chr8:127565890..127568398,2	MCF-7	breast:
23	chr14:81684496..81687014-chr14:81780787..81782724,4	MCF-7	breast:
24	chr14:81685352..81686225-chr19:36630968..36631868,2	Hela-S3	cervix:
25	chr14:81684386..81687381-chr14:81725613..81728928,6	MCF-7	breast:
26	chr1:121484317..121485045-chr14:81685301..81685965,2	NB4	blood:
27	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:
28	chr12:44088284..44089279-chr14:81685253..81685938,2	MCF-7	breast:
29	chr14:81634129..81641173-chr14:81683190..81688873,17	MCF-7	breast:
30	chr14:81684366..81687032-chr14:81998471..82002054,3	MCF-7	breast:
31	chr14:81684503..81687134-chr14:81866673..81870053,4	K562	blood:
32	chr14:81684973..81687245-chr14:81740036..81742167,2	K562	blood:
33	chr14:81627657..81630242-chr14:81684338..81686999,2	MCF-7	breast:
34	chr14:81684734..81687566-chr14:81785566..81790169,4	MCF-7	breast:
35	chr14:81684792..81690788-chr14:81724993..81730571,6	K562	blood:
36	chr14:81635464..81638481-chr14:81684307..81689009,9	K562	blood:
37	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:
38	chr1:17230734..17232563-chr14:81684596..81686685,2	MCF-7	breast:
39	chr14:81685465..81686386-chr19:14016942..14017531,2	Hela-S3	cervix:
40	chr14:81456409..81459092-chr14:81684225..81686871,2	MCF-7	breast:
41	chr14:81684527..81687237-chr9:91145457..91147469,2	MCF-7	breast:
42	chr14:81684581..81688465-chr14:81899255..81904181,10	K562	blood:
43	chr14:81684220..81688666-chr14:81897892..81904337,14	K562	blood:
44	chr14:81479552..81481692-chr14:81684705..81687037,3	K562	blood:
45	chr14:81684940..81687366-chr6:99962476..99964757,2	MCF-7	breast:
46	chr14:81647686..81650322-chr14:81684054..81687029,2	MCF-7	breast:
47	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
48	chr1:234612623..234615572-chr14:81684888..81687310,2	MCF-7	breast:
49	chr14:81684944..81686707-chr14:81908977..81911709,2	MCF-7	breast:
50	chr1:155293665..155294460-chr14:81685420..81686301,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000059588	Chromatin interaction
ENSG00000255242	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000103253	Chromatin interaction
ENSG00000170468	Chromatin interaction
ENSG00000100629	Chromatin interaction
ENSG00000205579	Chromatin interaction
ENSG00000132016	Chromatin interaction
ENSG00000124659	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000258675	Chromatin interaction
ENSG00000258999	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000221303	Chromatin interaction
ENSG00000071537	Chromatin interaction
ENSG00000140022	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000198668	Chromatin interaction
ENSG00000270343	Chromatin interaction
ENSG00000138386	Chromatin interaction
ENSG00000132024	Chromatin interaction
ENSG00000123552	Chromatin interaction
ENSG00000165409	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10149681	0.87[CHD][hapmap]
rs1035948	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159493	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11159494	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11622105	0.81[AFR][1000 genomes]
rs11625861	0.85[CEU][hapmap];0.83[MEX][hapmap]
rs11850714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12147118	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs12372876	0.84[MEX][hapmap]
rs12590764	0.85[EUR][1000 genomes]
rs1864167	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864169	0.83[CHB][hapmap]
rs1885601	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951614	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957546	0.85[CHD][hapmap]
rs1957549	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2099108	0.81[ASN][1000 genomes]
rs2241621	0.85[CEU][hapmap];0.87[MEX][hapmap]
rs2288497	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288499	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];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371570	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4363794	0.89[EUR][1000 genomes]
rs55643303	0.93[AFR][1000 genomes]
rs55822231	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56835982	0.88[AFR][1000 genomes]
rs61980899	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980900	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574631	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];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7141288	0.90[AFR][1000 genomes]
rs7142641	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs7148100	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs7149672	0.87[CHB][hapmap];0.87[CHD][hapmap]
rs7160569	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs759939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8004096	0.85[EUR][1000 genomes]
rs8007841	0.86[CHD][hapmap]
rs8008870	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8009519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8011097	0.85[EUR][1000 genomes]
rs8014406	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs8015423	0.89[ASW][hapmap];0.85[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs8016982	0.87[CHB][hapmap]
rs8019108	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap]
rs8021125	0.85[EUR][1000 genomes]
rs8021385	0.85[EUR][1000 genomes]
rs9646167	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9806020	0.86[CHD][hapmap]
rs9806027	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs9944085	0.89[ASW][hapmap];0.81[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][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	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	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3815953	STON2	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81675200-81685600	Weak transcription	Gastric	stomach
2	chr14:81682400-81685800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:81684000-81685600	Flanking Active TSS	Dnd41	blood
4	chr14:81684000-81688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81684200-81685600	Weak transcription	Spleen	Spleen
6	chr14:81684200-81685800	Weak transcription	Small Intestine	intestine
7	chr14:81684200-81689200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:81684400-81687800	Active TSS	Thymus	Thymus
9	chr14:81684400-81687800	Active TSS	K562	blood
10	chr14:81684600-81688000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:81684600-81688000	Active TSS	HSMMtube	muscle
12	chr14:81684600-81688000	Active TSS	NHLF	lung
13	chr14:81684600-81688200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:81684600-81688400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:81684800-81685600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:81684800-81687800	Active TSS	GM12878-XiMat	blood
17	chr14:81684800-81688000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:81684800-81688000	Active TSS	Fetal Brain Female	brain
19	chr14:81684800-81688200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:81684800-81688200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:81684800-81688200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:81684800-81688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:81684800-81688600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:81685000-81685600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:81685000-81685800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr14:81685000-81685800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr14:81685000-81685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:81685000-81685800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr14:81685000-81687000	Active TSS	Right Atrium	heart
30	chr14:81685000-81687600	Active TSS	HMEC	breast
31	chr14:81685000-81687800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:81685000-81687800	Active TSS	Fetal Thymus	thymus
33	chr14:81685000-81687800	Active TSS	NHDF-Ad	bronchial
34	chr14:81685000-81688000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr14:81685000-81688000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:81685000-81688000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr14:81685000-81688000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:81685000-81688000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81685000-81688000	Active TSS	Brain Germinal Matrix	brain
40	chr14:81685000-81688000	Active TSS	Fetal Intestine Large	intestine
41	chr14:81685000-81688000	Active TSS	Fetal Kidney	kidney
42	chr14:81685000-81688000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:81685000-81688000	Active TSS	Stomach Smooth Muscle	stomach
44	chr14:81685000-81688200	Active TSS	Brain Anterior Caudate	brain
45	chr14:81685000-81688200	Active TSS	Fetal Stomach	stomach
46	chr14:81685000-81688400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:81685000-81688400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:81685200-81685600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr14:81685200-81685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr14:81685200-81685600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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