Variant report

Variant	rs56354417
Chromosome Location	chr2:111885844-111885845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55798204	0.85[AFR][1000 genomes]
rs56038719	0.85[AFR][1000 genomes]
rs56405634	0.85[AFR][1000 genomes]
rs61584108	1.00[AFR][1000 genomes]
rs73954940	1.00[AFR][1000 genomes]
rs73954952	0.86[AFR][1000 genomes]
rs73954955	1.00[AFR][1000 genomes]
rs73954956	1.00[AFR][1000 genomes]
rs73954957	1.00[AFR][1000 genomes]
rs73954960	1.00[AFR][1000 genomes]
rs73954961	1.00[AFR][1000 genomes]
rs73954968	0.85[AFR][1000 genomes]
rs73954969	0.85[AFR][1000 genomes]
rs73954970	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3458156	chr2:111883046-111886204	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3458158	chr2:111883092-111886185	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3458157	chr2:111883126-111886174	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3458159	chr2:111883126-111886174	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv963952	chr2:111883259-111893062	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111888400	Weak transcription	HUVEC	blood vessel
2	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
3	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:111881200-111909600	Weak transcription	NHLF	lung
7	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:111881400-111886400	Weak transcription	Fetal Kidney	kidney
9	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:111881600-111887600	Strong transcription	Placenta	Placenta
11	chr2:111881600-111888200	Strong transcription	A549	lung
12	chr2:111881600-111888400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:111881600-111888600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:111881600-111889800	Strong transcription	K562	blood
15	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
17	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
18	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:111881800-111886600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:111881800-111886800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:111881800-111887600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr2:111881800-111887800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:111881800-111889800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:111881800-111893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:111881800-111893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:111881800-111893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:111881800-111894400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
31	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:111882200-111887400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:111882400-111887400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:111882400-111887800	Strong transcription	Primary B cells from cord blood	blood
37	chr2:111882400-111888600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:111882600-111887400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:111882600-111887800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:111882600-111888200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:111882800-111887800	Strong transcription	HSMM	muscle
42	chr2:111883000-111886000	Strong transcription	HSMMtube	muscle
43	chr2:111883000-111887000	Weak transcription	Colonic Mucosa	Colon
44	chr2:111883000-111888200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:111883000-111893200	Weak transcription	NH-A	brain
46	chr2:111883000-111893400	Weak transcription	Brain Anterior Caudate	brain
47	chr2:111883200-111894800	Weak transcription	NHEK	skin
48	chr2:111883400-111886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:111883400-111886000	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:111883400-111886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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