Variant report

Variant	rs62138458
Chromosome Location	chr2:47584666-47584667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47570845..47573135-chr2:47584024..47585924,2	MCF-7	breast:
2	chr2:47584059..47586279-chr2:47594901..47598266,3	MCF-7	breast:
3	chr2:47583818..47586759-chr2:47606055..47607678,2	K562	blood:

Variant related genes	Relation type
ENSG00000234690	Chromatin interaction
ENSG00000119888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62139664	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62139669	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62139709	0.88[AMR][1000 genomes]
rs62139710	0.94[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:55 , 50 per page) page: 1 2

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	chr2:47581000-47584800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:47582400-47585200	Enhancers	K562	blood
7	chr2:47582400-47588200	Weak transcription	NHDF-Ad	bronchial
8	chr2:47583000-47586600	Weak transcription	Stomach Mucosa	stomach
9	chr2:47583200-47585200	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:47583800-47585000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:47583800-47585000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:47583800-47585000	Enhancers	A549	lung
13	chr2:47583800-47585200	Enhancers	HepG2	liver
14	chr2:47584000-47584800	Enhancers	HMEC	breast
15	chr2:47584000-47585000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:47584000-47585000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:47584000-47585000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:47584000-47585000	Enhancers	Osteobl	bone
19	chr2:47584000-47585400	Enhancers	Fetal Heart	heart
20	chr2:47584200-47584800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:47584200-47584800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:47584200-47584800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:47584200-47584800	Enhancers	Fetal Stomach	stomach
24	chr2:47584200-47584800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr2:47584200-47585000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:47584200-47585000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:47584200-47585000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:47584200-47585000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:47584200-47585400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:47584200-47585400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:47584200-47586400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:47584200-47587000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:47584400-47584800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:47584400-47584800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:47584400-47584800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:47584400-47584800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:47584400-47584800	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr2:47584400-47584800	Enhancers	Right Atrium	heart
39	chr2:47584400-47584800	Enhancers	Spleen	Spleen
40	chr2:47584400-47584800	Enhancers	NHEK	skin
41	chr2:47584400-47585000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:47584400-47585000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:47584400-47585000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:47584400-47585000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:47584400-47585000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:47584400-47585000	Enhancers	NH-A	brain
47	chr2:47584400-47585000	Enhancers	NHLF	lung
48	chr2:47584400-47585200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:47584400-47585200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:47584400-47585200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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