Variant report

Variant	rs4489243
Chromosome Location	chr7:79828958-79828959
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10252512	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706672	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147931	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2428468	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428470	0.87[EUR][1000 genomes]
rs2428471	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2523191	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2523193	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2523194	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2523195	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2523196	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2714455	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2714456	0.83[EUR][1000 genomes]
rs2714466	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4552840	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60873462	0.92[EUR][1000 genomes]
rs6467043	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969850	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380507	0.89[EUR][1000 genomes]
rs73380510	0.87[EUR][1000 genomes]
rs7807610	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79801800-79840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:79807200-79829200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:79807200-79833400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:79807800-79842000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:79809600-79847600	Weak transcription	HUVEC	blood vessel
6	chr7:79811600-79845000	Weak transcription	Primary T cells from cord blood	blood
7	chr7:79813400-79829000	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:79814200-79842600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:79815000-79830600	Weak transcription	Placenta	Placenta
10	chr7:79815000-79848200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:79815000-79850200	Weak transcription	Lung	lung
12	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:79816200-79846800	Weak transcription	Esophagus	oesophagus
14	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:79816800-79830600	Weak transcription	Gastric	stomach
16	chr7:79816800-79831800	Weak transcription	Hela-S3	cervix
17	chr7:79817000-79829800	Weak transcription	Osteobl	bone
18	chr7:79817000-79830600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:79817000-79833000	Weak transcription	HSMM	muscle
20	chr7:79817000-79841000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:79817000-79842400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:79817000-79851200	Weak transcription	Aorta	Aorta
23	chr7:79817200-79829200	Weak transcription	Fetal Brain Female	brain
24	chr7:79817200-79829200	Weak transcription	Fetal Stomach	stomach
25	chr7:79817400-79829200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:79817600-79829200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:79819000-79833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:79819200-79830200	Weak transcription	Liver	Liver
29	chr7:79820600-79829800	Weak transcription	Fetal Brain Male	brain
30	chr7:79820600-79830000	Weak transcription	NHDF-Ad	bronchial
31	chr7:79820600-79847000	Weak transcription	NHLF	lung
32	chr7:79820600-79853800	Weak transcription	Left Ventricle	heart
33	chr7:79821000-79829000	Weak transcription	Ovary	ovary
34	chr7:79821000-79829800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:79821400-79832800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:79825000-79847400	Weak transcription	Pancreas	Pancrea
37	chr7:79825200-79844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:79825600-79830200	Weak transcription	A549	lung
40	chr7:79825600-79833000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:79825600-79833400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:79825800-79837000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:79826000-79829800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:79826600-79835200	Weak transcription	HepG2	liver
45	chr7:79826600-79837800	Weak transcription	Fetal Heart	heart
46	chr7:79826800-79830200	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:79827000-79842600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:79827200-79829200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:79827200-79830600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:79827200-79837800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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