Variant report

Variant	rs59405666
Chromosome Location	chr2:112456519-112456520
allele	A/C
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	chr2:111876801..111878957-chr2:112454944..112456829,2	K562	blood:
2	chr2:111877911..111879825-chr2:112455830..112457517,2	MCF-7	breast:
3	chr2:112424871..112427816-chr2:112455987..112457978,2	K562	blood:
4	chr2:112377013..112378994-chr2:112455600..112458086,2	K562	blood:
5	chr2:112444088..112447481-chr2:112453009..112458135,6	K562	blood:
6	chr2:111876801..111879359-chr2:112454758..112456829,3	K562	blood:
7	chr2:112437626..112439337-chr2:112454101..112456706,2	MCF-7	breast:
8	chr2:111873969..111881159-chr2:112454883..112465517,19	MCF-7	breast:
9	chr2:112456013..112458038-chr2:112460220..112461752,2	K562	blood:
10	chr2:112417271..112419341-chr2:112454697..112456913,2	MCF-7	breast:
11	chr2:112445224..112447481-chr2:112456345..112458135,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11123031	1.00[AMR][1000 genomes]
rs1474027	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1804157	chr2:112012230-112597338	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
7	esv1791981	chr2:112012230-112601415	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
8	nsv869322	chr2:112046621-112592146	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1005124	chr2:112068777-112470883	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	esv1797237	chr2:112126837-112592287	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	esv2753073	chr2:112212769-112491769	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv874857	chr2:112354445-112473872	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv874858	chr2:112354445-112512202	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112453200-112460200	Weak transcription	Psoas Muscle	Psoas
2	chr2:112454800-112457200	Enhancers	Small Intestine	intestine
3	chr2:112455200-112457800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:112455400-112456800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:112455600-112456600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:112455600-112456800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:112455600-112456800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:112455600-112456800	Enhancers	Hela-S3	cervix
9	chr2:112455600-112457000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:112455600-112457000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:112455600-112457200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:112455600-112457400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:112455600-112457400	Enhancers	NHLF	lung
14	chr2:112455600-112469400	Enhancers	Fetal Thymus	thymus
15	chr2:112455800-112456600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:112455800-112456800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:112455800-112456800	Enhancers	Fetal Muscle Leg	muscle
18	chr2:112455800-112457000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:112455800-112457000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:112455800-112457000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:112455800-112457000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:112455800-112457000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:112455800-112457000	Enhancers	Esophagus	oesophagus
24	chr2:112455800-112457000	Enhancers	Gastric	stomach
25	chr2:112455800-112457000	Enhancers	Lung	lung
26	chr2:112455800-112457000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:112455800-112457000	Enhancers	Thymus	Thymus
28	chr2:112455800-112457000	Enhancers	Spleen	Spleen
29	chr2:112455800-112457200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:112455800-112457400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr2:112455800-112457400	Enhancers	NH-A	brain
32	chr2:112456200-112456600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:112456200-112456600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:112456200-112456600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:112456200-112456600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:112456200-112456600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:112456200-112456600	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr2:112456200-112456600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:112456200-112456800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:112456200-112457000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:112456200-112457000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr2:112456200-112457000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:112456200-112457000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr2:112456200-112457000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:112456200-112457000	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:112456200-112457000	Flanking Active TSS	HUVEC	blood vessel
47	chr2:112456200-112457000	Flanking Active TSS	K562	blood
48	chr2:112456200-112457000	Flanking Active TSS	NHEK	skin
49	chr2:112456200-112457000	Flanking Active TSS	Osteobl	bone
50	chr2:112456200-112457200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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