Variant report

Variant	rs72900776
Chromosome Location	chr1:47223611-47223612
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1258062	1.00[AMR][1000 genomes]
rs17102443	1.00[AMR][1000 genomes]
rs17102459	1.00[AMR][1000 genomes]
rs2984805	1.00[AMR][1000 genomes]
rs58568840	1.00[AMR][1000 genomes]
rs599869	1.00[AMR][1000 genomes]
rs635972	1.00[AMR][1000 genomes]
rs644675	1.00[AMR][1000 genomes]
rs654509	1.00[AMR][1000 genomes]
rs659308	1.00[AMR][1000 genomes]
rs682000	1.00[AMR][1000 genomes]
rs72886508	1.00[AMR][1000 genomes]
rs72886510	1.00[AMR][1000 genomes]
rs72886514	1.00[AMR][1000 genomes]
rs72898800	1.00[AMR][1000 genomes]
rs72900717	1.00[AMR][1000 genomes]
rs72900729	1.00[AMR][1000 genomes]
rs72900756	1.00[AMR][1000 genomes]
rs72900763	1.00[AMR][1000 genomes]
rs72900764	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7544284	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47215200-47226000	Weak transcription	Lung	lung
2	chr1:47219400-47224600	Enhancers	Placenta	Placenta
3	chr1:47219400-47225600	Enhancers	Fetal Intestine Small	intestine
4	chr1:47219400-47231600	Enhancers	Fetal Intestine Large	intestine
5	chr1:47219800-47224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:47221000-47225000	Weak transcription	HUVEC	blood vessel
7	chr1:47221400-47224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:47222000-47224400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:47222000-47225000	Weak transcription	Small Intestine	intestine
10	chr1:47222200-47224000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:47222200-47224000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:47222600-47224000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:47222600-47224000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:47222800-47224000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:47222800-47224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:47222800-47224400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:47223000-47223800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:47223000-47223800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:47223000-47224000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:47223000-47224000	Enhancers	Pancreas	Pancrea
21	chr1:47223000-47224000	Flanking Active TSS	HMEC	breast
22	chr1:47223000-47224000	Enhancers	NH-A	brain
23	chr1:47223000-47224200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:47223000-47224400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:47223000-47224400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:47223000-47224400	Enhancers	Fetal Kidney	kidney
27	chr1:47223000-47224400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:47223200-47223800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:47223200-47223800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr1:47223200-47224000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:47223200-47224400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:47223200-47224400	Enhancers	Gastric	stomach
33	chr1:47223400-47224000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:47223400-47224200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:47223400-47224400	Enhancers	Stomach Mucosa	stomach
36	chr1:47223600-47223800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:47223600-47224000	Enhancers	Esophagus	oesophagus
38	chr1:47223600-47224200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:47223600-47224400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:47223600-47224400	Enhancers	Fetal Lung	lung
41	chr1:47223600-47224400	Enhancers	NHEK	skin

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