Variant report

Variant	rs267305
Chromosome Location	chr5:114590891-114590892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:114590868-114591182	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114590599..114592772-chr5:114598115..114599795,3	MCF-7	breast:
2	chr5:114590810..114593401-chr5:114627414..114629564,2	MCF-7	breast:
3	chr5:114588379..114591127-chr5:114596921..114598565,2	MCF-7	breast:

Variant related genes	Relation type
PGGT1B	TF binding region
ENSG00000164219	Chromatin interaction
ENSG00000271797	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005056	1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs10463668	0.83[EUR][1000 genomes]
rs1160441	0.92[EUR][1000 genomes]
rs169127	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs265437	0.81[LWK][hapmap]
rs267293	1.00[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs267294	0.92[EUR][1000 genomes]
rs267296	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2909841	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2910012	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4705731	1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs55952947	0.90[EUR][1000 genomes]
rs58781194	0.85[AFR][1000 genomes];0.90[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	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1029371	chr5:114541428-114590891	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
2	chr5:114547800-114596600	Weak transcription	Brain Germinal Matrix	brain
3	chr5:114548400-114596800	Weak transcription	K562	blood
4	chr5:114549400-114597200	Weak transcription	Aorta	Aorta
5	chr5:114563400-114591600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:114563400-114597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:114565200-114597400	Weak transcription	Colonic Mucosa	Colon
8	chr5:114575000-114597000	Weak transcription	Fetal Stomach	stomach
9	chr5:114575800-114597000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:114576000-114596800	Weak transcription	Fetal Kidney	kidney
11	chr5:114576000-114596800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:114576200-114591000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:114576200-114596000	Weak transcription	Hela-S3	cervix
14	chr5:114576200-114596800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:114576400-114594400	Weak transcription	Lung	lung
16	chr5:114576600-114593000	Weak transcription	HSMMtube	muscle
17	chr5:114576600-114596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:114576600-114596400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:114576600-114597000	Weak transcription	Brain Substantia Nigra	brain
20	chr5:114576800-114591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:114576800-114596000	Weak transcription	NHDF-Ad	bronchial
22	chr5:114576800-114596400	Weak transcription	Fetal Lung	lung
23	chr5:114576800-114597000	Weak transcription	Thymus	Thymus
24	chr5:114576800-114597400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:114577000-114591600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:114577000-114591800	Weak transcription	Psoas Muscle	Psoas
27	chr5:114577000-114596800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:114577000-114596800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:114577000-114597200	Weak transcription	Placenta	Placenta
30	chr5:114577200-114595400	Weak transcription	Dnd41	blood
31	chr5:114577200-114596800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:114577400-114591400	Weak transcription	Adipose Nuclei	Adipose
33	chr5:114577400-114596800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:114577600-114591600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:114577600-114594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:114577800-114594000	Weak transcription	Primary T cells from cord blood	blood
37	chr5:114579600-114593200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:114579600-114593400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:114579600-114593400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:114579600-114594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:114579600-114594000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:114579600-114596000	Weak transcription	HSMM	muscle
43	chr5:114579600-114596600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:114579600-114597000	Weak transcription	Small Intestine	intestine
45	chr5:114579800-114591800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:114579800-114592000	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:114579800-114593400	Weak transcription	Osteobl	bone
48	chr5:114579800-114594000	Weak transcription	NHLF	lung
49	chr5:114579800-114594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:114579800-114597000	Weak transcription	Fetal Intestine Small	intestine

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