Variant report

Variant	rs62139661
Chromosome Location	chr2:47586105-47586106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47584059..47586279-chr2:47594901..47598266,3	MCF-7	breast:
2	chr2:47583818..47586759-chr2:47606055..47607678,2	K562	blood:

Variant related genes	Relation type
ENSG00000119888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17218055	1.00[AMR][1000 genomes]
rs17218104	1.00[AMR][1000 genomes]
rs17224444	1.00[AMR][1000 genomes]
rs56116962	1.00[AMR][1000 genomes]
rs62138455	1.00[AMR][1000 genomes]
rs62138457	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62139662	0.82[EUR][1000 genomes]
rs62139666	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62139722	1.00[AMR][1000 genomes]
rs62139723	1.00[AMR][1000 genomes]
rs62140871	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47575000-47586600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47578200-47589600	Enhancers	Fetal Intestine Small	intestine
3	chr2:47580200-47589600	Enhancers	Fetal Intestine Large	intestine
4	chr2:47580600-47588400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:47582400-47588200	Weak transcription	NHDF-Ad	bronchial
6	chr2:47583000-47586600	Weak transcription	Stomach Mucosa	stomach
7	chr2:47584200-47586400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr2:47584200-47587000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:47584400-47587000	Enhancers	Colonic Mucosa	Colon
10	chr2:47584800-47587600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:47584800-47588200	Weak transcription	HMEC	breast
12	chr2:47584800-47588400	Weak transcription	NHEK	skin
13	chr2:47585000-47586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:47585000-47587600	Weak transcription	A549	lung
15	chr2:47585000-47587600	Weak transcription	Osteobl	bone
16	chr2:47585000-47588000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:47585000-47588200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:47585000-47588200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:47585000-47588400	Weak transcription	NH-A	brain
20	chr2:47585200-47586400	Weak transcription	K562	blood
21	chr2:47585200-47586600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:47585200-47586600	Weak transcription	HepG2	liver
23	chr2:47585200-47587600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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