Variant report

Variant	rs1146374
Chromosome Location	chr1:85894027-85894028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1006988	0.88[EUR][1000 genomes]
rs10873702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1261681	0.87[AFR][1000 genomes]
rs1357635	0.81[AFR][1000 genomes]
rs1523994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975755	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016104	0.81[AFR][1000 genomes]
rs2389948	0.87[AFR][1000 genomes]
rs2840319	0.81[AFR][1000 genomes]
rs539714	0.91[AFR][1000 genomes]
rs561422	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570121	0.90[ASN][1000 genomes]
rs600098	0.87[AFR][1000 genomes]
rs604974	0.84[AFR][1000 genomes]
rs631817	0.84[AFR][1000 genomes]
rs6420965	0.81[AFR][1000 genomes]
rs659070	0.82[AFR][1000 genomes]
rs6672870	0.90[AFR][1000 genomes]
rs7546931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7547571	0.81[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85874000-85903800	Weak transcription	NHLF	lung
2	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:85874400-85903600	Weak transcription	HepG2	liver
4	chr1:85874400-85904200	Weak transcription	NH-A	brain
5	chr1:85886400-85899000	Weak transcription	NHDF-Ad	bronchial
6	chr1:85886400-85903800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
8	chr1:85886800-85897200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:85886800-85903800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:85887600-85902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:85887600-85903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:85890000-85894200	Weak transcription	HSMM	muscle
13	chr1:85890400-85902200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:85891000-85897200	Weak transcription	Fetal Brain Female	brain
15	chr1:85891600-85897200	Weak transcription	Osteobl	bone
16	chr1:85892200-85906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:85892800-85894400	Enhancers	Fetal Brain Male	brain
18	chr1:85893000-85894200	Enhancers	Colon Smooth Muscle	Colon
19	chr1:85893000-85894600	Enhancers	Liver	Liver
20	chr1:85893200-85894200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:85893400-85894200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:85893400-85894400	Enhancers	Aorta	Aorta
23	chr1:85893400-85894400	Enhancers	Psoas Muscle	Psoas
24	chr1:85893400-85894400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:85893400-85894600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:85893400-85894600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:85893600-85894400	Enhancers	Brain Anterior Caudate	brain
28	chr1:85893600-85894400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:85893600-85894600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:85893600-85894600	Enhancers	Adipose Nuclei	Adipose
31	chr1:85893600-85894600	Enhancers	Pancreas	Pancrea
32	chr1:85893600-85897000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:85893800-85894600	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:85893800-85897000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:85893800-85906200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:85894000-85894600	Enhancers	HUVEC	blood vessel
38	chr1:85894000-85897000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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