Variant report

Variant	rs1073196
Chromosome Location	chr3:133297806-133297807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133234670..133236418-chr3:133296104..133297868,2	K562	blood:
2	chr3:133297624..133299633-chr3:133303195..133305687,2	MCF-7	breast:
3	chr3:133182617..133183639-chr3:133297124..133298374,5	MCF-7	breast:
4	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
5	chr3:133213067..133213647-chr3:133297636..133298293,2	MCF-7	breast:
6	chr3:133162782..133163438-chr3:133297156..133297900,2	MCF-7	breast:
7	chr3:133182317..133184120-chr3:133296724..133299109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249993	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10049438	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.89[ASN][1000 genomes]
rs12634591	0.80[GIH][hapmap];0.95[TSI][hapmap]
rs13088006	0.90[ASN][1000 genomes]
rs3821508	0.81[CHD][hapmap]
rs4854586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4854587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4854735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58195246	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59326091	0.85[ASN][1000 genomes]
rs59804735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60251264	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6781238	0.81[CHD][hapmap]
rs72970169	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1073196	EPHB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133293600-133298400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr3:133294200-133298600	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr3:133294200-133301000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:133294200-133302200	Weak transcription	Pancreas	Pancrea
5	chr3:133294200-133306000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:133294400-133298200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr3:133294400-133300200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:133294600-133308800	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr3:133294800-133298600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:133294800-133309800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr3:133295200-133298200	Genic enhancers	Primary B cells from cord blood	blood
12	chr3:133295200-133298200	Genic enhancers	HepG2	liver
13	chr3:133295200-133308400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:133295400-133298000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:133295400-133298200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:133295400-133298200	Genic enhancers	Liver	Liver
17	chr3:133295400-133298200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:133295400-133298200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:133295400-133298400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:133295400-133298600	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:133295400-133298800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:133295400-133300400	Weak transcription	Colonic Mucosa	Colon
23	chr3:133295400-133301000	Weak transcription	Ovary	ovary
24	chr3:133295400-133301200	Weak transcription	Spleen	Spleen
25	chr3:133295400-133301400	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr3:133295400-133302400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:133295400-133308800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:133295400-133308800	Strong transcription	Fetal Intestine Large	intestine
29	chr3:133295400-133309200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:133295400-133309200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:133295600-133298000	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr3:133295600-133298200	Genic enhancers	Hela-S3	cervix
33	chr3:133295600-133298200	Genic enhancers	Osteobl	bone
34	chr3:133295600-133298400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:133295600-133298600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:133295600-133298800	Genic enhancers	Fetal Thymus	thymus
37	chr3:133295600-133301600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:133295600-133308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:133295600-133309200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:133295600-133309200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:133295600-133309400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:133295600-133310400	Strong transcription	Fetal Stomach	stomach
43	chr3:133296000-133298000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:133296000-133298200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:133296200-133298800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr3:133296200-133299000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:133296200-133299000	Strong transcription	NH-A	brain
48	chr3:133296400-133299600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:133296600-133298000	Genic enhancers	Primary hematopoietic stem cells	blood
50	chr3:133296600-133298000	Genic enhancers	Brain Cingulate Gyrus	brain

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