Variant report

Variant	rs56196255
Chromosome Location	chr2:54799898-54799899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54758614..54760270-chr2:54799626..54801180,2	MCF-7	breast:
2	chr2:54782556..54791633-chr2:54796824..54803982,19	MCF-7	breast:
3	chr2:54799047..54801001-chr2:54844688..54847061,2	MCF-7	breast:
4	chr2:54799809..54803669-chr2:54884381..54886305,3	MCF-7	breast:
5	chr2:54749018..54751873-chr2:54799647..54801248,2	MCF-7	breast:
6	chr2:54783962..54788714-chr2:54796833..54801765,9	K562	blood:
7	chr2:54759032..54761078-chr2:54799312..54800939,2	MCF-7	breast:
8	chr2:54793317..54796723-chr2:54797852..54801262,4	MCF-7	breast:
9	chr2:54799877..54801952-chr2:54808384..54810954,2	K562	blood:
10	chr2:54798938..54801134-chr2:54831623..54833818,2	K562	blood:
11	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1431973	1.00[AMR][1000 genomes]
rs1431974	1.00[AMR][1000 genomes]
rs55633042	1.00[AMR][1000 genomes]
rs56951671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57406175	1.00[AMR][1000 genomes]
rs57539931	1.00[AMR][1000 genomes]
rs57926982	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58204287	1.00[AMR][1000 genomes]
rs58924163	1.00[AMR][1000 genomes]
rs58987524	1.00[AMR][1000 genomes]
rs59061110	1.00[AMR][1000 genomes]
rs59402608	1.00[AMR][1000 genomes]
rs60293507	1.00[AMR][1000 genomes]
rs60542617	1.00[AMR][1000 genomes]
rs60611759	1.00[AMR][1000 genomes]
rs6740921	1.00[AMR][1000 genomes]
rs73934512	1.00[AMR][1000 genomes]
rs73934514	1.00[AMR][1000 genomes]
rs73934808	1.00[AMR][1000 genomes]
rs73934809	1.00[AMR][1000 genomes]
rs73937514	1.00[AMR][1000 genomes]
rs73938306	1.00[AMR][1000 genomes]
rs7570695	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54789800-54801400	Enhancers	Liver	Liver
2	chr2:54791200-54801200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:54794400-54804200	Weak transcription	Ovary	ovary
4	chr2:54795200-54802200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:54795400-54801400	Enhancers	Fetal Thymus	thymus
6	chr2:54795600-54802400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr2:54795800-54800000	Enhancers	NHLF	lung
8	chr2:54795800-54801200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:54795800-54801800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:54795800-54801800	Enhancers	Fetal Kidney	kidney
11	chr2:54795800-54802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:54795800-54803000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr2:54795800-54803200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:54795800-54803400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:54795800-54807000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:54795800-54807600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:54796000-54801200	Enhancers	Thymus	Thymus
18	chr2:54796000-54801600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:54796000-54801600	Enhancers	Brain Substantia Nigra	brain
20	chr2:54796000-54801800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:54796000-54802000	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:54796000-54802000	Enhancers	Fetal Lung	lung
23	chr2:54796000-54802200	Enhancers	HSMMtube	muscle
24	chr2:54796000-54802400	Enhancers	Brain Hippocampus Middle	brain
25	chr2:54796000-54802600	Enhancers	HMEC	breast
26	chr2:54796000-54802800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:54796000-54804400	Enhancers	Adipose Nuclei	Adipose
28	chr2:54796000-54807600	Enhancers	Brain Angular Gyrus	brain
29	chr2:54796200-54800400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:54796200-54801400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:54796200-54801400	Enhancers	Placenta	Placenta
32	chr2:54796200-54801600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr2:54796200-54801800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:54796200-54806200	Enhancers	Right Atrium	heart
35	chr2:54796200-54806400	Enhancers	Brain Anterior Caudate	brain
36	chr2:54796200-54806800	Enhancers	Pancreas	Pancrea
37	chr2:54796400-54802200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:54796400-54803600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:54796400-54808800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:54796600-54801200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:54796600-54802200	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:54796800-54800600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:54796800-54800600	Enhancers	Fetal Stomach	stomach
44	chr2:54796800-54802200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:54796800-54802800	Enhancers	K562	blood
46	chr2:54796800-54803200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:54796800-54806800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:54796800-54807400	Enhancers	Psoas Muscle	Psoas
49	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:54796800-54810600	Enhancers	Small Intestine	intestine

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