Variant report

Variant	rs1168048
Chromosome Location	chr1:62983965-62983966
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10889341	1.00[AMR][1000 genomes]
rs1167995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167997	1.00[AMR][1000 genomes]
rs1168008	1.00[AMR][1000 genomes]
rs1168016	1.00[AMR][1000 genomes]
rs1168038	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168088	1.00[AMR][1000 genomes]
rs1168091	1.00[AMR][1000 genomes]
rs1168125	1.00[AMR][1000 genomes]
rs1690760	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690765	1.00[AMR][1000 genomes]
rs1748194	1.00[AMR][1000 genomes]
rs1781215	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029764	1.00[AMR][1000 genomes]
rs2801387	1.00[AMR][1000 genomes]
rs2813926	1.00[AMR][1000 genomes]
rs34186185	1.00[AMR][1000 genomes]
rs584387	1.00[AMR][1000 genomes]
rs593519	1.00[AMR][1000 genomes]
rs612455	1.00[AMR][1000 genomes]
rs657444	1.00[AMR][1000 genomes]
rs660642	1.00[AMR][1000 genomes]
rs6701517	1.00[AMR][1000 genomes]
rs9436660	1.00[AMR][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	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	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-62999800	Weak transcription	Gastric	stomach
2	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
3	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
5	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:62941600-62998200	Weak transcription	Fetal Heart	heart
7	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:62941800-62984600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
10	chr1:62954000-63003400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
12	chr1:62957800-62998200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:62958200-63010800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:62958200-63061000	Weak transcription	Lung	lung
16	chr1:62958400-62984600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:62958400-62997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:62958400-62998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:62960000-62998200	Weak transcription	HMEC	breast
20	chr1:62960200-62984800	Weak transcription	Primary B cells from cord blood	blood
21	chr1:62960200-62999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:62960400-62984800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:62960400-62985000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:62960400-62985000	Weak transcription	HSMMtube	muscle
25	chr1:62960400-63004400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:62960400-63011800	Weak transcription	Pancreas	Pancrea
27	chr1:62961600-62993600	Weak transcription	HUVEC	blood vessel
28	chr1:62968400-62984600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:62968400-63000200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:62970600-62998200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:62973400-62984800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:62973400-62984800	Weak transcription	Dnd41	blood
33	chr1:62973400-62995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:62973600-62993600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:62973600-62993800	Weak transcription	Placenta	Placenta
36	chr1:62977000-62984800	Weak transcription	Fetal Lung	lung
37	chr1:62977000-63004800	Weak transcription	NHLF	lung
38	chr1:62978600-62984600	Weak transcription	Fetal Brain Female	brain
39	chr1:62978600-62997600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:62978600-62999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:62978800-63002000	Weak transcription	NH-A	brain
42	chr1:62979000-62998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:62979200-62984600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:62979200-62984600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:62979200-62997600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:62979200-63026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:62979400-62984200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:62979400-62984800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:62979400-62999200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:62979600-62984400	Weak transcription	Fetal Muscle Leg	muscle

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