Variant report

Variant	rs56019057
Chromosome Location	chr2:148645658-148645659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148641518..148643796-chr2:148645034..148647455,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13339769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650008	1.00[AMR][1000 genomes]
rs55789579	1.00[AFR][1000 genomes]
rs56230499	1.00[AMR][1000 genomes]
rs57649486	1.00[AMR][1000 genomes]
rs58152261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59792091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61182887	0.84[AFR][1000 genomes]
rs73963902	0.84[AFR][1000 genomes]
rs73964121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964127	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964137	1.00[AMR][1000 genomes]
rs73964195	1.00[AMR][1000 genomes]
rs73964200	1.00[AMR][1000 genomes]
rs73964325	1.00[AMR][1000 genomes]
rs73964327	1.00[AMR][1000 genomes]
rs73964329	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3405592	chr2:148641025-148650069	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:148635600-148645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
4	chr2:148637400-148654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:148639000-148654800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:148639800-148646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:148642000-148645800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:148642400-148646200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:148642600-148645800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:148642600-148646200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:148642600-148668200	Weak transcription	Psoas Muscle	Psoas
12	chr2:148642800-148645800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:148642800-148646400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:148642800-148657000	Weak transcription	Fetal Kidney	kidney
15	chr2:148642800-148668200	Weak transcription	Fetal Lung	lung
16	chr2:148642800-148670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:148643000-148646200	Weak transcription	Liver	Liver
19	chr2:148643200-148660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:148643200-148663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:148644200-148646200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:148644800-148657200	Weak transcription	Left Ventricle	heart
23	chr2:148645200-148645800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:148645400-148645800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:148645400-148646000	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:148645400-148646200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:148645400-148646200	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:148645400-148646400	Enhancers	Colon Smooth Muscle	Colon
29	chr2:148645600-148645800	Enhancers	Fetal Heart	heart
30	chr2:148645600-148671000	Weak transcription	Placenta Amnion	Placenta Amnion

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