Variant report

Variant	rs1101988
Chromosome Location	chr1:158992195-158992196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1057024	0.96[ASN][1000 genomes]
rs10908699	0.96[ASN][1000 genomes]
rs1101993	0.88[EUR][1000 genomes]
rs1101994	0.88[EUR][1000 genomes]
rs1101995	0.88[EUR][1000 genomes]
rs1101996	0.88[EUR][1000 genomes]
rs1101997	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1101998	0.86[EUR][1000 genomes]
rs11265131	0.96[EUR][1000 genomes]
rs12059564	0.92[ASN][1000 genomes]
rs12087333	0.88[EUR][1000 genomes]
rs12120311	0.88[EUR][1000 genomes]
rs12139793	0.88[EUR][1000 genomes]
rs56248786	0.88[EUR][1000 genomes]
rs56348543	0.88[EUR][1000 genomes]
rs7525853	0.88[EUR][1000 genomes]
rs7535856	0.96[EUR][1000 genomes]
rs7540687	0.88[EUR][1000 genomes]
rs856043	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs856044	0.94[ASN][1000 genomes]
rs856046	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs856049	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs856050	0.94[EUR][1000 genomes]
rs856054	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs856066	0.84[AFR][1000 genomes]
rs856068	0.84[AFR][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	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-159000800	Weak transcription	Gastric	stomach
2	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
4	chr1:158982800-159000200	Weak transcription	Aorta	Aorta
5	chr1:158984000-159000800	Weak transcription	Right Ventricle	heart
6	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:158984400-158995200	Strong transcription	Fetal Intestine Large	intestine
8	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
9	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:158985600-158995200	Strong transcription	Thymus	Thymus
11	chr1:158985800-158994400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:158985800-158995200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:158985800-159005000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:158986000-158992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:158986000-158994000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:158986000-158995000	Strong transcription	HSMM	muscle
17	chr1:158986000-158995200	Strong transcription	Osteobl	bone
18	chr1:158986000-159016200	Weak transcription	Stomach Mucosa	stomach
19	chr1:158986200-158992600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr1:158987000-158995000	Strong transcription	HUVEC	blood vessel
21	chr1:158987000-158995200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:158987000-159000200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:158987000-159000400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:158987200-158992200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:158987200-158996200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr1:158987200-158998400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:158987200-159000000	Weak transcription	Small Intestine	intestine
28	chr1:158987200-159000200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:158987200-159000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:158987200-159001200	Strong transcription	Fetal Thymus	thymus
31	chr1:158987600-158996400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:158987800-158993400	Weak transcription	Fetal Intestine Small	intestine
33	chr1:158987800-159000200	Weak transcription	Esophagus	oesophagus
34	chr1:158988000-158992400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:158988000-158993400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:158988000-158993600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:158988000-158995200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:158988000-159002200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:158988200-158993400	Weak transcription	Lung	lung
40	chr1:158988200-158993600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:158988200-159000000	Weak transcription	HSMMtube	muscle
42	chr1:158988200-159000200	Weak transcription	Left Ventricle	heart
43	chr1:158988200-159016600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:158988400-158993400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:158988400-159002400	Weak transcription	Fetal Brain Male	brain
46	chr1:158988600-158993600	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:158988600-158995600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:158988600-159024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:158988800-158992600	Strong transcription	Primary B cells from cord blood	blood
50	chr1:158988800-158993400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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