Variant report

Variant	rs56364658
Chromosome Location	chr2:53925398-53925399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:53924659-53926186	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53920239..53922188-chr2:53922712..53925505,2	K562	blood:

Variant related genes	Relation type
GPR75-ASB3	TF binding region
ENSG00000115239	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10198317	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1011449	chr2:53894529-53947781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1009107	chr2:53896767-53946913	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014949	chr2:53896767-53947781	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011400	chr2:53899956-53947781	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:53888200-53934200	Weak transcription	Lung	lung
4	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
5	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
6	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:53893800-53926800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:53894400-53933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:53895400-53925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:53895400-53926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:53895800-53926200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:53896400-53926000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
14	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:53898200-53935400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:53898200-53935400	Weak transcription	Fetal Kidney	kidney
17	chr2:53900600-53926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:53900600-53935600	Weak transcription	K562	blood
19	chr2:53900800-53936400	Weak transcription	NH-A	brain
20	chr2:53900800-53936800	Weak transcription	NHLF	lung
21	chr2:53906600-53933800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:53906800-53935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:53907200-53927000	Weak transcription	Placenta	Placenta
24	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
25	chr2:53908800-53926000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:53909000-53934400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:53909000-53935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:53910000-53935200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:53910600-53933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:53911200-53926000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:53911400-53935400	Weak transcription	Right Ventricle	heart
35	chr2:53911600-53936200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:53912400-53936200	Weak transcription	Gastric	stomach
37	chr2:53912600-53933600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:53912800-53927000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:53913000-53936200	Weak transcription	Spleen	Spleen
40	chr2:53913400-53926400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:53914200-53934800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:53914600-53926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:53915800-53926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:53916600-53925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:53917000-53926000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:53917600-53926200	Weak transcription	GM12878-XiMat	blood
47	chr2:53917600-53936200	Weak transcription	Esophagus	oesophagus
48	chr2:53917800-53926200	Weak transcription	HepG2	liver
49	chr2:53917800-53934000	Weak transcription	Ovary	ovary
50	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart

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