Variant report

Variant	rs1864167
Chromosome Location	chr14:81637074-81637075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:492)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:81636782-81637312	HUVEC	blood vessel:	n/a	chr14:81637075-81637086
2	CTCF	chr14:81637000-81637150	HFF	foreskin:	n/a	n/a
3	GATA3	chr14:81636500-81637311	A549	lung:	n/a	n/a
4	TAF1	chr14:81636476-81637136	ECC-1	luminal epithelium:	n/a	n/a
5	TAF1	chr14:81636446-81637099	HepG2	liver:	n/a	n/a
6	CTCF	chr14:81637020-81637170	GM12874	blood:	n/a	n/a
7	MAX	chr14:81635898-81637296	HepG2	liver:	n/a	n/a
8	RAD21	chr14:81636672-81637379	A549	lung:	n/a	n/a
9	RCOR1	chr14:81636533-81637126	HepG2	liver:	n/a	n/a
10	CTCF	chr14:81636971-81637220	GM19240	blood:	n/a	n/a
11	CTCF	chr14:81636977-81637207	NHEK	skin:	n/a	n/a
12	POLR2A	chr14:81636549-81637190	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr14:81637040-81637190	HRE	kidney:	n/a	n/a
14	CTCF	chr14:81637020-81637170	AG09309	skin:	n/a	n/a
15	POLR2A	chr14:81636446-81637152	A549	lung:	n/a	n/a
16	PML	chr14:81636482-81637302	GM12878	blood:	n/a	n/a
17	BRCA1	chr14:81636836-81637270	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr14:81636725-81637311	GM12878	blood:	n/a	n/a
19	ZC3H11A	chr14:81636775-81637254	K562	blood:	n/a	n/a
20	CTCF	chr14:81637000-81637150	HBMEC	blood vessel:	n/a	n/a
21	MAX	chr14:81636634-81637188	K562	blood:	n/a	n/a
22	NFIC	chr14:81636690-81637293	GM12878	blood:	n/a	n/a
23	JUND	chr14:81636528-81637219	A549	lung:	n/a	chr14:81637075-81637086
24	POLR2A	chr14:81636587-81637174	K562	blood:	n/a	n/a
25	GTF2B	chr14:81636779-81637181	K562	blood:	n/a	n/a
26	HEY1	chr14:81636591-81637171	K562	blood:	n/a	n/a
27	JUND	chr14:81636646-81637306	H1-hESC	embryonic stem cell:	n/a	chr14:81637075-81637086
28	POLR2A	chr14:81636281-81637267	SK-N-MC	brain:	n/a	n/a
29	PAX5	chr14:81636635-81637218	GM12878	blood:	n/a	n/a
30	CTCF	chr14:81637060-81637210	HCT-116	colon:	n/a	n/a
31	CTCF	chr14:81637040-81637190	GM12866	blood:	n/a	n/a
32	POLR2A	chr14:81636337-81637310	PBDE	blood:	n/a	n/a
33	BRCA1	chr14:81636828-81637186	HepG2	liver:	n/a	n/a
34	CTCF	chr14:81637040-81637190	AoAF	blood vessel:	n/a	n/a
35	POU2F2	chr14:81636472-81637263	GM12878	blood:	n/a	n/a
36	RAD21	chr14:81636884-81637270	A549	lung:	n/a	n/a
37	CTCF	chr14:81637020-81637170	AG04449	skin:	n/a	n/a
38	POLR2A	chr14:81636478-81637177	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr14:81636924-81637207	HepG2	liver:	n/a	n/a
40	MYBL2	chr14:81636634-81637218	HepG2	liver:	n/a	n/a
41	HEY1	chr14:81636517-81637175	HepG2	liver:	n/a	n/a
42	CTCF	chr14:81637040-81637190	NHDF-neo	bronchial:	n/a	n/a
43	SP1	chr14:81636913-81637278	H1-hESC	embryonic stem cell:	n/a	n/a
44	UBTF	chr14:81636741-81637142	K562	blood:	n/a	n/a
45	ATF2	chr14:81636664-81637328	GM12878	blood:	n/a	n/a
46	CTCF	chr14:81637000-81637150	HA-sp	spinal cord:	n/a	n/a
47	E2F4	chr14:81636657-81637259	MCF10A-Er-Src	breast:	n/a	n/a
48	CTCF	chr14:81636974-81637274	HUVEC	blood vessel:	n/a	n/a
49	MAZ	chr14:81636626-81637192	HepG2	liver:	n/a	n/a
50	CTCF	chr14:81637040-81637190	GM12871	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81635245..81640402-chr14:81683793..81689293,8	MCF-7	breast:
2	chr14:81636805..81638447-chr14:81638782..81640342,2	MCF-7	breast:
3	chr14:81447196..81448849-chr14:81635444..81638287,2	MCF-7	breast:
4	chr14:81635998..81637498-chr3:183561470..183563942,2	MCF-7	breast:
5	chr14:81635464..81638481-chr14:81684307..81689009,9	K562	blood:
6	chr14:81634129..81641173-chr14:81683190..81688873,17	MCF-7	breast:
7	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258999	TF binding region
ENSG00000175193	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000258915	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10149681	0.84[CHD][hapmap]
rs1035948	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159493	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11159494	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625861	0.83[MEX][hapmap]
rs11850714	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12147118	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs12372876	0.84[MEX][hapmap]
rs1864169	0.83[CHB][hapmap]
rs1885601	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951614	0.89[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951615	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957546	0.87[CHD][hapmap]
rs1957549	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991516	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2099108	0.81[ASN][1000 genomes]
rs2241621	0.87[MEX][hapmap]
rs2288497	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288499	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815953	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]
rs4363794	0.80[EUR][1000 genomes]
rs61980899	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980900	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574631	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];0.97[MKK][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142641	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs7148100	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs7149672	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs759939	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007841	0.84[CHD][hapmap]
rs8009519	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8014406	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs8015423	0.81[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap]
rs8016982	0.87[CHB][hapmap]
rs8019108	0.81[CHB][hapmap]
rs9646167	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9806020	0.84[CHD][hapmap]
rs9806027	0.83[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs9944085	0.82[CHD][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1864167	STON2	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81635600-81637200	Active TSS	Brain Anterior Caudate	brain
2	chr14:81635800-81637200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:81635800-81637200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:81635800-81637200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:81635800-81637200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr14:81635800-81637200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:81635800-81637200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:81635800-81637200	Active TSS	Brain Angular Gyrus	brain
9	chr14:81635800-81637200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:81635800-81637200	Active TSS	Colon Smooth Muscle	Colon
11	chr14:81635800-81637200	Active TSS	A549	lung
12	chr14:81635800-81637200	Active TSS	NHDF-Ad	bronchial
13	chr14:81635800-81637400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr14:81635800-81637400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr14:81635800-81637600	Flanking Active TSS	Dnd41	blood
16	chr14:81636000-81637200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:81636000-81637200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:81636000-81637200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:81636000-81637200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:81636000-81637200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr14:81636000-81637200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr14:81636000-81637200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr14:81636000-81637200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:81636000-81637200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr14:81636000-81637200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:81636000-81637200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:81636000-81637200	Active TSS	Brain Germinal Matrix	brain
28	chr14:81636000-81637200	Active TSS	Colonic Mucosa	Colon
29	chr14:81636000-81637200	Active TSS	Fetal Intestine Large	intestine
30	chr14:81636000-81637200	Active TSS	Fetal Stomach	stomach
31	chr14:81636000-81637200	Active TSS	Ovary	ovary
32	chr14:81636000-81637200	Active TSS	Rectal Smooth Muscle	rectum
33	chr14:81636000-81637200	Active TSS	Right Ventricle	heart
34	chr14:81636000-81637200	Flanking Active TSS	HUVEC	blood vessel
35	chr14:81636000-81637400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr14:81636000-81637600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:81636200-81637200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr14:81636200-81637200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr14:81636200-81637200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr14:81636200-81637200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:81636200-81637200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:81636200-81637200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:81636200-81637200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr14:81636200-81637200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:81636200-81637200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr14:81636200-81637200	Active TSS	Brain Substantia Nigra	brain
47	chr14:81636200-81637200	Active TSS	Fetal Brain Male	brain
48	chr14:81636200-81637200	Active TSS	Fetal Intestine Small	intestine
49	chr14:81636200-81637200	Active TSS	Fetal Kidney	kidney
50	chr14:81636200-81637200	Active TSS	Fetal Lung	lung

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