Variant report

Variant	rs4535199
Chromosome Location	chr3:134013144-134013145
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10935107	0.85[EUR][1000 genomes]
rs10935108	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10935109	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10935110	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11918596	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12630508	0.90[EUR][1000 genomes]
rs12639108	0.84[EUR][1000 genomes]
rs7620294	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7625988	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7648456	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4535199	EPHB1	cis	lymphoblastoid	seeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134010600-134018200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:134011000-134013400	Weak transcription	Small Intestine	intestine
3	chr3:134011000-134018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:134012000-134014000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:134012000-134014200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:134012000-134014200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:134012200-134014000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:134012200-134014200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:134012200-134014400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:134012400-134014000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:134012600-134014000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:134012800-134013200	Enhancers	Primary T cells from cord blood	blood
13	chr3:134012800-134013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:134012800-134013800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:134012800-134014400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:134013000-134013200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr3:134013000-134013200	Enhancers	HMEC	breast
18	chr3:134013000-134013800	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:134013000-134013800	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:134013000-134013800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr3:134013000-134013800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:134013000-134013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:134013000-134013800	Enhancers	Dnd41	blood
24	chr3:134013000-134014000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:134013000-134014000	Flanking Active TSS	GM12878-XiMat	blood
26	chr3:134013000-134014200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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