Variant report

Variant	rs191454
Chromosome Location	chr3:111793316-111793317
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111792644..111794499-chr3:111797268..111798908,2	K562	blood:
2	chr3:111792824..111796051-chr3:111796443..111799498,4	MCF-7	breast:
3	chr3:111792657..111794523-chr3:111799735..111802519,2	MCF-7	breast:
4	chr3:111792401..111798775-chr3:111803596..111811380,13	MCF-7	breast:
5	chr3:111774848..111776911-chr3:111792668..111794283,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114529	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1075618	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11715561	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1907639	0.93[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340145	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340150	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4544583	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56256580	0.98[ASN][1000 genomes]
rs7650076	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs902855	0.87[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs191454	NAA50	cis	parietal	SCAN
rs191454	CD200	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111780800-111793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:111789600-111794000	Enhancers	Fetal Thymus	thymus
3	chr3:111791400-111793800	Enhancers	Primary T cells from cord blood	blood
4	chr3:111791600-111794200	Weak transcription	Placenta	Placenta
5	chr3:111791600-111796600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:111791800-111793800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:111791800-111794600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:111792400-111793400	Enhancers	Stomach Mucosa	stomach
9	chr3:111792400-111794800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr3:111792600-111793400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr3:111792600-111793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:111792600-111793600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:111792600-111793600	Enhancers	A549	lung
14	chr3:111792600-111793600	Enhancers	NH-A	brain
15	chr3:111792600-111793800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:111792600-111793800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:111792600-111793800	Enhancers	Hela-S3	cervix
18	chr3:111792600-111793800	Enhancers	HSMM	muscle
19	chr3:111792600-111794600	Flanking Active TSS	Osteobl	bone
20	chr3:111792600-111795200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:111792800-111793600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:111792800-111793600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr3:111792800-111793600	Enhancers	Thymus	Thymus
24	chr3:111792800-111793800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr3:111792800-111794200	Enhancers	Fetal Intestine Large	intestine
26	chr3:111792800-111794200	Enhancers	Fetal Intestine Small	intestine
27	chr3:111792800-111794400	Enhancers	HSMMtube	muscle
28	chr3:111792800-111794400	Enhancers	NHDF-Ad	bronchial
29	chr3:111792800-111794400	Enhancers	NHLF	lung
30	chr3:111792800-111794600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:111792800-111794600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:111792800-111794600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:111792800-111794600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr3:111792800-111794800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:111792800-111794800	Enhancers	HUVEC	blood vessel
36	chr3:111793000-111793400	Enhancers	Right Ventricle	heart
37	chr3:111793000-111793400	Flanking Active TSS	HMEC	breast
38	chr3:111793000-111793400	Flanking Active TSS	NHEK	skin
39	chr3:111793000-111793800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:111793000-111793800	Enhancers	Duodenum Mucosa	Duodenum
41	chr3:111793000-111793800	Enhancers	HepG2	liver
42	chr3:111793000-111794000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:111793000-111794400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:111793200-111793400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:111793200-111793600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr3:111793200-111793800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:111793200-111794400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:111793200-111794400	Enhancers	Aorta	Aorta
49	chr3:111793200-111794600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:111793200-111794600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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