Variant report

Variant	rs72881343
Chromosome Location	chr2:37905146-37905147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37896479..37901472-chr2:37903866..37909932,8	MCF-7	breast:
2	chr2:37900528..37902254-chr2:37903447..37906132,2	MCF-7	breast:
3	chr2:37903809..37907927-chr2:37994371..37997035,4	MCF-7	breast:
4	chr2:37903844..37906735-chr2:37907477..37909784,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163171	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17021175	1.00[EUR][1000 genomes]
rs17021202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60910686	1.00[EUR][1000 genomes]
rs72882171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72882173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73928825	1.00[EUR][1000 genomes]
rs7578208	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv998567	chr2:37886244-37910627	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37899800-37906800	Weak transcription	Gastric	stomach
2	chr2:37900200-37916000	Weak transcription	Psoas Muscle	Psoas
3	chr2:37900400-37905200	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:37900400-37905200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:37900400-37906800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:37900400-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:37902400-37910600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:37902600-37905200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:37903400-37909600	Weak transcription	K562	blood
10	chr2:37903400-37910000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:37903800-37905800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:37903800-37906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:37903800-37906600	Weak transcription	Stomach Mucosa	stomach
14	chr2:37903800-37910600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:37904000-37905400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:37904000-37906400	Weak transcription	HSMM	muscle
17	chr2:37904000-37911200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:37904800-37905400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:37904800-37905600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:37905000-37905200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:37905000-37905200	Enhancers	Esophagus	oesophagus
22	chr2:37905000-37905200	Enhancers	Lung	lung
23	chr2:37905000-37905200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:37905000-37905600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:37905000-37905600	Enhancers	Skeletal Muscle Female	skeletal muscle

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