Variant report

Variant	rs12721455
Chromosome Location	chr7:79832906-79832907
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10234223	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241877	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247757	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10248135	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10276981	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10278243	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17245731	0.97[ASN][1000 genomes]
rs28435776	0.81[ASN][1000 genomes]
rs28647788	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35118140	0.81[ASN][1000 genomes]
rs3801357	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67096317	0.91[ASN][1000 genomes]
rs73151419	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7789475	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 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	chr7:79807200-79833400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:79807800-79842000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:79809600-79847600	Weak transcription	HUVEC	blood vessel
5	chr7:79811600-79845000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:79814200-79842600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:79815000-79848200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:79815000-79850200	Weak transcription	Lung	lung
9	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:79816200-79846800	Weak transcription	Esophagus	oesophagus
11	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:79817000-79833000	Weak transcription	HSMM	muscle
13	chr7:79817000-79841000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:79817000-79842400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:79817000-79851200	Weak transcription	Aorta	Aorta
16	chr7:79819000-79833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:79820600-79847000	Weak transcription	NHLF	lung
18	chr7:79820600-79853800	Weak transcription	Left Ventricle	heart
19	chr7:79825000-79847400	Weak transcription	Pancreas	Pancrea
20	chr7:79825200-79844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:79825600-79833000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:79825600-79833400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:79825800-79837000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:79826600-79835200	Weak transcription	HepG2	liver
26	chr7:79826600-79837800	Weak transcription	Fetal Heart	heart
27	chr7:79827000-79842600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:79827200-79837800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:79827200-79837800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:79827200-79838000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:79827400-79842200	Weak transcription	NH-A	brain
32	chr7:79827800-79835800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:79828000-79839600	Weak transcription	Fetal Intestine Large	intestine
34	chr7:79828000-79845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:79828200-79836400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:79828200-79842200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:79828400-79834200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:79828400-79835600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:79828600-79834000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:79828600-79835000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:79828600-79835400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:79828600-79836200	Strong transcription	Adipose Nuclei	Adipose
43	chr7:79828600-79836600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:79828800-79835200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:79829000-79834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:79829200-79846000	Weak transcription	Right Ventricle	heart
47	chr7:79829200-79853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:79829400-79845800	Weak transcription	Psoas Muscle	Psoas
49	chr7:79829600-79835600	Strong transcription	Fetal Lung	lung
50	chr7:79829600-79836200	Weak transcription	Brain Angular Gyrus	brain

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