Variant report

Variant	rs1498380
Chromosome Location	chr1:85690187-85690188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85588834..85592505-chr1:85688070..85691110,3	K562	blood:
2	chr1:85665362..85671529-chr1:85685487..85692910,10	MCF-7	breast:
3	chr1:85689720..85692131-chr1:85719135..85721500,2	MCF-7	breast:
4	chr1:85689392..85691785-chr1:85702623..85704408,2	K562	blood:
5	chr1:85665411..85671906-chr1:85683759..85698338,27	MCF-7	breast:
6	chr1:85667494..85671075-chr1:85689483..85691213,3	K562	blood:
7	chr1:85689750..85691517-chr1:85716712..85719328,2	K562	blood:
8	chr1:85689750..85692180-chr1:85716712..85719328,3	K562	blood:
9	chr1:85664799..85667009-chr1:85689577..85692364,3	K562	blood:
10	chr1:85684618..85687077-chr1:85688979..85691367,2	MCF-7	breast:
11	chr1:85669575..85671940-chr1:85689295..85691213,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction
ENSG00000162643	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10747317	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10782542	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10782543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873693	0.83[EUR][1000 genomes]
rs1498378	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9432848	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs973167	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][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	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85673800-85690400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:85681400-85690400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:85685600-85690400	Enhancers	Fetal Lung	lung
4	chr1:85685800-85690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:85686400-85690400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:85686400-85690400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:85686600-85690400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:85686600-85690400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:85686600-85690800	Weak transcription	Esophagus	oesophagus
10	chr1:85686800-85690800	Weak transcription	Right Atrium	heart
11	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
12	chr1:85687400-85690400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:85688200-85690200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:85688200-85690600	Enhancers	Colon Smooth Muscle	Colon
15	chr1:85688400-85690400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:85688600-85692200	Enhancers	Fetal Intestine Small	intestine
17	chr1:85688800-85690600	Enhancers	K562	blood
18	chr1:85689000-85691000	Enhancers	Fetal Heart	heart
19	chr1:85689200-85692000	Enhancers	Stomach Mucosa	stomach
20	chr1:85689400-85690800	Weak transcription	Pancreas	Pancrea
21	chr1:85689400-85691200	Weak transcription	Gastric	stomach
22	chr1:85689400-85696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:85689600-85692000	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:85689800-85690200	Weak transcription	Placenta	Placenta
25	chr1:85689800-85691000	Enhancers	NHEK	skin
26	chr1:85689800-85691800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:85690000-85690600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:85690000-85690800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:85690000-85691000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:85690000-85691600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:85690000-85691600	Enhancers	Fetal Stomach	stomach
32	chr1:85690000-85692000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:85690000-85692200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:85690000-85692200	Enhancers	Fetal Intestine Large	intestine
35	chr1:85690000-85692200	Enhancers	Fetal Kidney	kidney
36	chr1:85690000-85692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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