Variant report

Variant	rs7700478
Chromosome Location	chr5:114591853-114591854
allele	C/T
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	GATA3	chr5:114591833-114592036	SH-SY5Y	brain:	n/a	chr5:114592014-114592030 chr5:114592016-114592028 chr5:114592018-114592025 chr5:114592011-114592032 chr5:114592017-114592027 chr5:114592018-114592025 chr5:114592018-114592025 chr5:114592014-114592030 chr5:114592018-114592027
2	GATA3	chr5:114591742-114592241	MCF-7	breast:	n/a	chr5:114592014-114592030 chr5:114592016-114592028 chr5:114592018-114592025 chr5:114592011-114592032 chr5:114592017-114592027 chr5:114592018-114592025 chr5:114592018-114592025 chr5:114592014-114592030 chr5:114592018-114592027
3	MAFK	chr5:114591853-114592122	HepG2	liver:	n/a	chr5:114591978-114591993
4	MAFF	chr5:114591850-114592103	HepG2	liver:	n/a	n/a

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

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10079729	1.00[CHB][hapmap]
rs1363236	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs17137577	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17137584	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs17459137	0.87[GIH][hapmap]
rs187852	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2605182	1.00[CHB][hapmap]
rs265422	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265423	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265427	0.91[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265428	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265431	0.91[CEU][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs265432	0.91[CEU][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265433	0.80[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265434	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs265440	0.83[CEU][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs265441	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs265443	0.91[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs265444	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs62383167	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7703101	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:95 , 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	chr5:114563400-114597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:114565200-114597400	Weak transcription	Colonic Mucosa	Colon
7	chr5:114575000-114597000	Weak transcription	Fetal Stomach	stomach
8	chr5:114575800-114597000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:114576000-114596800	Weak transcription	Fetal Kidney	kidney
10	chr5:114576000-114596800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:114576200-114596000	Weak transcription	Hela-S3	cervix
12	chr5:114576200-114596800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:114576400-114594400	Weak transcription	Lung	lung
14	chr5:114576600-114593000	Weak transcription	HSMMtube	muscle
15	chr5:114576600-114596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:114576600-114596400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:114576600-114597000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:114576800-114596000	Weak transcription	NHDF-Ad	bronchial
19	chr5:114576800-114596400	Weak transcription	Fetal Lung	lung
20	chr5:114576800-114597000	Weak transcription	Thymus	Thymus
21	chr5:114576800-114597400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:114577000-114596800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:114577000-114596800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:114577000-114597200	Weak transcription	Placenta	Placenta
25	chr5:114577200-114595400	Weak transcription	Dnd41	blood
26	chr5:114577200-114596800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:114577400-114596800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:114577600-114594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:114577800-114594000	Weak transcription	Primary T cells from cord blood	blood
30	chr5:114579600-114593200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:114579600-114593400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:114579600-114593400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:114579600-114594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:114579600-114594000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:114579600-114596000	Weak transcription	HSMM	muscle
36	chr5:114579600-114596600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:114579600-114597000	Weak transcription	Small Intestine	intestine
38	chr5:114579800-114592000	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:114579800-114593400	Weak transcription	Osteobl	bone
40	chr5:114579800-114594000	Weak transcription	NHLF	lung
41	chr5:114579800-114594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:114579800-114597000	Weak transcription	Fetal Intestine Small	intestine
43	chr5:114579800-114597400	Weak transcription	Left Ventricle	heart
44	chr5:114582600-114594200	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:114584600-114594800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:114584600-114596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:114584600-114597000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:114584600-114597000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:114584600-114597000	Weak transcription	Fetal Intestine Large	intestine
50	chr5:114584600-114597000	Weak transcription	Fetal Muscle Leg	muscle

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