Variant report

Variant	rs72915113
Chromosome Location	chr1:63125928-63125929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17123771	0.84[AFR][1000 genomes]
rs59429889	0.80[AFR][1000 genomes]
rs72915127	0.84[AFR][1000 genomes]
rs72915134	0.84[AFR][1000 genomes]
rs72915136	0.89[AFR][1000 genomes]
rs72915168	0.82[AFR][1000 genomes]
rs7533847	0.84[AFR][1000 genomes]
rs990035	1.00[AMR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:63096800-63129400	Weak transcription	Esophagus	oesophagus
4	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:63107400-63129600	Weak transcription	NHLF	lung
6	chr1:63107400-63132200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
8	chr1:63107600-63147800	Weak transcription	NHEK	skin
9	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
10	chr1:63109000-63130600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
14	chr1:63110200-63126200	Weak transcription	NH-A	brain
15	chr1:63110200-63140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:63111400-63129800	Weak transcription	Primary T cells from cord blood	blood
17	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
18	chr1:63112400-63137600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:63112400-63140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:63112400-63142400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:63112400-63142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:63113200-63134600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:63113400-63128000	Weak transcription	Placenta	Placenta
25	chr1:63113400-63132800	Weak transcription	A549	lung
26	chr1:63113400-63142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:63113400-63142400	Weak transcription	Osteobl	bone
28	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
30	chr1:63114000-63128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:63114000-63128200	Weak transcription	HMEC	breast
32	chr1:63114000-63143000	Weak transcription	Aorta	Aorta
33	chr1:63118000-63131200	Weak transcription	Ovary	ovary
34	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:63118200-63147600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:63118800-63130400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:63119000-63148000	Weak transcription	Fetal Brain Female	brain
38	chr1:63119600-63130600	Weak transcription	Liver	Liver
39	chr1:63119800-63126000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:63119800-63126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:63119800-63126200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:63119800-63126400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:63119800-63126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:63119800-63128800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:63119800-63132200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:63119800-63132600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:63119800-63132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:63119800-63134600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:63119800-63134800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:63119800-63138800	Weak transcription	Fetal Kidney	kidney

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