Variant report

Variant	rs563090491
Chromosome Location	chr1:154882942-154882943
allele	C/G
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154882778..154883698-chr1:154989669..154990611,2	K562	blood:
2	chr1:154849815..154852371-chr1:154881627..154884570,2	MCF-7	breast:
3	chr1:154881164..154883503-chr9:140135699..140137300,2	MCF-7	breast:
4	chr1:154876039..154878161-chr1:154882581..154884940,2	K562	blood:
5	chr1:154882435..154885017-chr1:154964825..154967536,2	MCF-7	breast:
6	chr1:154882150..154887936-chr1:154908082..154910802,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMVK-3	chr1:154880039-154883076	expRegAs_chr1_16333_-

No data

No data

Variant related genes	Relation type
ENSG00000160688	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000163352	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000270361	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv2977	chr1:154881053-154907613	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154879200-154893200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:154879800-154894800	Weak transcription	Aorta	Aorta
3	chr1:154880400-154894400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:154881000-154883800	Weak transcription	Right Ventricle	heart
5	chr1:154881400-154894800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:154881600-154895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:154881800-154883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:154882200-154891200	Weak transcription	Fetal Stomach	stomach
9	chr1:154882400-154883600	Enhancers	Spleen	Spleen
10	chr1:154882400-154897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:154882600-154885000	Enhancers	Esophagus	oesophagus
12	chr1:154882600-154889200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:154882800-154883000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:154882800-154883600	Enhancers	Placenta	Placenta
15	chr1:154882800-154884400	Weak transcription	Fetal Brain Female	brain
16	chr1:154882800-154897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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