Variant report

Variant	rs74098818
Chromosome Location	chr1:85880046-85880047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56390427	0.81[AFR][1000 genomes]
rs57416273	0.81[AFR][1000 genomes]
rs74096891	0.81[AFR][1000 genomes]
rs74098803	0.81[AFR][1000 genomes]
rs74098805	0.81[AFR][1000 genomes]
rs74098806	0.81[AFR][1000 genomes]
rs74098807	0.88[AFR][1000 genomes]
rs74098808	0.88[AFR][1000 genomes]
rs74098816	1.00[AFR][1000 genomes]
rs74098825	1.00[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85873400-85882800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:85873600-85885000	Weak transcription	Fetal Intestine Large	intestine
3	chr1:85873800-85882000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:85873800-85885400	Weak transcription	Fetal Stomach	stomach
5	chr1:85873800-85887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:85874000-85903800	Weak transcription	NHLF	lung
7	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:85874400-85903600	Weak transcription	HepG2	liver
9	chr1:85874400-85904200	Weak transcription	NH-A	brain
10	chr1:85875000-85882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:85875400-85885600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85877000-85880400	Enhancers	NHDF-Ad	bronchial
13	chr1:85877200-85885600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:85877400-85882400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:85877600-85882400	Weak transcription	Psoas Muscle	Psoas
16	chr1:85877600-85882800	Weak transcription	Aorta	Aorta
17	chr1:85877600-85882800	Weak transcription	Pancreas	Pancrea
18	chr1:85877600-85882800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:85877600-85885800	Weak transcription	HSMMtube	muscle
20	chr1:85877800-85882600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:85878000-85883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:85878200-85880600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:85878200-85882600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:85878400-85880200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:85878400-85880400	Enhancers	Osteobl	bone
26	chr1:85878400-85883000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:85878800-85880600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:85879000-85882800	Weak transcription	Ovary	ovary
29	chr1:85879200-85880400	Enhancers	HUVEC	blood vessel
30	chr1:85879200-85885600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:85879600-85880200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:85879600-85880400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:85879600-85880400	Enhancers	Brain Hippocampus Middle	brain
34	chr1:85879800-85880400	Enhancers	Brain Substantia Nigra	brain
35	chr1:85879800-85880600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:85880000-85880400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:85880000-85882000	Weak transcription	HSMM	muscle

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