Variant report

Variant	rs12535925
Chromosome Location	chr7:129284182-129284183
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129222358..129223166-chr7:129284165..129284686,2	MCF-7	breast:
2	chr7:129269611..129271899-chr7:129283285..129286284,2	K562	blood:
3	chr7:129112257..129112966-chr7:129284128..129284806,3	MCF-7	breast:
4	chr7:129277502..129279171-chr7:129282668..129285144,2	MCF-7	breast:
5	chr7:129278716..129282382-chr7:129282480..129285951,5	MCF-7	breast:
6	chr7:129250405..129253586-chr7:129279749..129286274,9	MCF-7	breast:
7	chr7:129249547..129251363-chr7:129284071..129286365,2	K562	blood:
8	chr7:128863244..128865301-chr7:129282640..129285577,2	K562	blood:
9	chr7:129276808..129280826-chr7:129281308..129284691,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273329	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000106459	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11532743	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12537713	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12538512	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13233824	0.86[CHB][hapmap]
rs13239849	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13241028	1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs13246347	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1806626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402974	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34783564	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35240725	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35343997	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35629686	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731613	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731618	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59675752	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62489293	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62489334	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71583713	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71583720	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12535925	UBE2H	cis	cerebellum	SCAN
rs12535925	IRF5	cis	cerebellum	SCAN
rs12535925	CALU	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129252800-129285800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:129253000-129297200	Weak transcription	Lung	lung
3	chr7:129253800-129297200	Weak transcription	Fetal Stomach	stomach
4	chr7:129255200-129286200	Weak transcription	Hela-S3	cervix
5	chr7:129256600-129284400	Weak transcription	HMEC	breast
6	chr7:129256600-129286600	Weak transcription	Thymus	Thymus
7	chr7:129257600-129288400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:129257800-129289000	Weak transcription	NHEK	skin
9	chr7:129257800-129297000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:129257800-129297000	Weak transcription	Fetal Intestine Large	intestine
11	chr7:129257800-129297200	Weak transcription	Aorta	Aorta
12	chr7:129259000-129296800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:129259200-129286200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:129260200-129297200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:129262800-129297000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:129265200-129297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:129267800-129289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:129270200-129293000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:129270400-129285000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:129271000-129293400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:129273400-129297000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:129275600-129297000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:129275600-129297200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:129275600-129297200	Weak transcription	HepG2	liver
25	chr7:129275800-129289000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:129277000-129297200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:129278400-129292800	Weak transcription	Fetal Lung	lung
28	chr7:129278400-129293400	Weak transcription	Primary T cells from cord blood	blood
29	chr7:129278400-129297000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:129278600-129289000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:129278800-129295400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:129279200-129296800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:129280600-129297000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:129281000-129297200	Weak transcription	Adipose Nuclei	Adipose
35	chr7:129282000-129284600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:129282600-129284600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:129282600-129284600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:129282600-129284600	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:129282600-129284600	Enhancers	Brain Hippocampus Middle	brain
40	chr7:129282800-129284200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:129282800-129284200	Enhancers	Brain Substantia Nigra	brain
42	chr7:129282800-129284600	Enhancers	Osteobl	bone
43	chr7:129282800-129287000	Enhancers	Fetal Heart	heart
44	chr7:129282800-129297400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:129283000-129284200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:129283000-129284200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:129283000-129284600	Enhancers	A549	lung
48	chr7:129283200-129284600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:129283200-129285000	Weak transcription	Primary B cells from cord blood	blood
50	chr7:129283200-129286200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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