Variant report

Variant	rs4832217
Chromosome Location	chr2:86119859-86119860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:86119730-86119927	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr2:86119719-86120063	A549	lung:	n/a	n/a
3	CEBPB	chr2:86119586-86120182	A549	lung:	n/a	n/a
4	POLR2A	chr2:86118029-86121960	K562	blood:	n/a	n/a
5	CEBPB	chr2:86119746-86120023	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86115047..86116757-chr2:86119715..86122326,2	MCF-7	breast:
2	chr2:86119682..86121677-chr2:86130359..86133618,3	MCF-7	breast:
3	chr2:86119817..86123713-chr2:86130856..86134451,3	K562	blood:
4	chr2:86115287..86117593-chr2:86119234..86121215,2	K562	blood:
5	chr2:86115287..86118043-chr2:86119453..86121215,2	K562	blood:

No data

Variant related genes	Relation type
ST3GAL5	TF binding region
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction
ENSG00000272564	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10496320	0.84[JPT][hapmap]
rs11127006	0.84[JPT][hapmap]
rs1135603	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12614498	0.82[CHB][hapmap]
rs12622987	0.84[JPT][hapmap]
rs13008291	0.93[ASN][1000 genomes]
rs13014421	0.84[JPT][hapmap]
rs1401384	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1518983	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1518991	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1543972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17026675	0.83[JPT][hapmap]
rs17026750	0.91[CEU][hapmap]
rs1878898	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];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878899	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878904	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];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577770	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577771	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577772	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2577774	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577775	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577777	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577778	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577779	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577780	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577786	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2679710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2679711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679712	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679714	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679715	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679716	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2679717	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679718	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679719	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2679720	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679721	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679722	0.96[CEU][hapmap];0.91[GIH][hapmap]
rs2679725	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28364794	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2918014	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918015	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918016	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945823	0.86[EUR][1000 genomes]
rs2945825	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945826	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35153287	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3810821	0.84[JPT][hapmap]
rs4832016	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap]
rs4832210	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap]
rs4832216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832218	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62150576	0.94[ASN][1000 genomes]
rs6547636	0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap]
rs6720161	0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs6734115	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6735629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747179	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6747294	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750686	0.87[CEU][hapmap]
rs7572209	0.84[JPT][hapmap]
rs764471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs954176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs959313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4832217	IMMT	cis	cerebellum	SCAN
rs4832217	ST3GAL5	cis	cerebellum	SCAN
rs4832217	C2orf51	cis	cerebellum	SCAN
rs4832217	PTCD3	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86116800-86120800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86117200-86120000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:86117400-86120600	Weak transcription	HUVEC	blood vessel
4	chr2:86117400-86120600	Weak transcription	NHLF	lung
5	chr2:86117400-86126400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:86117600-86120200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:86117800-86120600	Weak transcription	HSMMtube	muscle
8	chr2:86118000-86120200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:86118000-86120400	Weak transcription	NH-A	brain
10	chr2:86118000-86120600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:86118000-86120800	Weak transcription	Right Atrium	heart
12	chr2:86118000-86120800	Weak transcription	Right Ventricle	heart
13	chr2:86118000-86121600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:86118200-86120400	Enhancers	Brain Anterior Caudate	brain
15	chr2:86118200-86120600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:86118200-86120600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:86118200-86120800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:86118200-86120800	Weak transcription	Spleen	Spleen
19	chr2:86118200-86121000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:86118200-86122200	Weak transcription	Primary B cells from cord blood	blood
21	chr2:86118200-86126000	Weak transcription	Primary T cells from cord blood	blood
22	chr2:86118200-86126800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:86118400-86120600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:86118400-86120800	Weak transcription	Placenta	Placenta
25	chr2:86118400-86120800	Weak transcription	K562	blood
26	chr2:86118400-86126600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:86118400-86127600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:86118600-86120600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:86118600-86131000	Weak transcription	Thymus	Thymus
30	chr2:86118800-86121600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:86118800-86122400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:86119200-86120000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:86119200-86121600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:86119200-86122000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:86119400-86120000	Enhancers	Primary hematopoietic stem cells	blood
36	chr2:86119400-86120000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:86119400-86120000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:86119400-86120000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr2:86119400-86120000	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr2:86119400-86120000	Enhancers	Pancreas	Pancrea
41	chr2:86119400-86120400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:86119400-86120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:86119400-86120600	Enhancers	NHEK	skin
44	chr2:86119400-86120800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:86119400-86120800	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:86119400-86120800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:86119400-86121000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:86119400-86121200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:86119400-86121200	Enhancers	Fetal Lung	lung
50	chr2:86119400-86121200	Enhancers	Fetal Thymus	thymus

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