Variant report

Variant	rs72995438
Chromosome Location	chr1:154883742-154883743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154849815..154852371-chr1:154881627..154884570,2	MCF-7	breast:
2	chr1:154876039..154878161-chr1:154882581..154884940,2	K562	blood:
3	chr1:154882435..154885017-chr1:154964825..154967536,2	MCF-7	breast:
4	chr1:154882150..154887936-chr1:154908082..154910802,7	MCF-7	breast:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11552300	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12067954	0.80[AMR][1000 genomes]
rs17356361	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60445215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60537431	0.80[AMR][1000 genomes]
rs72993370	0.85[AFR][1000 genomes]
rs72995417	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72995418	0.80[AMR][1000 genomes]
rs72995422	0.80[AFR][1000 genomes]
rs72995425	0.88[AFR][1000 genomes]
rs72995442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:24 , 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	chr1:154882200-154891200	Weak transcription	Fetal Stomach	stomach
8	chr1:154882400-154897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:154882600-154885000	Enhancers	Esophagus	oesophagus
10	chr1:154882600-154889200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:154882800-154884400	Weak transcription	Fetal Brain Female	brain
12	chr1:154882800-154897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:154883000-154884600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:154883000-154884600	Enhancers	NHEK	skin
15	chr1:154883000-154884800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:154883200-154884000	Enhancers	HMEC	breast
17	chr1:154883200-154884600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:154883200-154885000	Weak transcription	Lung	lung
19	chr1:154883200-154887200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:154883400-154894800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:154883600-154884400	Weak transcription	Spleen	Spleen
22	chr1:154883600-154886800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:154883600-154893200	Weak transcription	Liver	Liver
24	chr1:154883600-154895000	Weak transcription	Placenta	Placenta

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