Variant report

Variant	rs12991267
Chromosome Location	chr2:55789414-55789415
allele	C/T
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]
rs1013138	0.84[ASN][1000 genomes]
rs12986444	0.81[ASN][1000 genomes]
rs12993624	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12998664	0.80[ASN][1000 genomes]
rs12998780	0.82[ASN][1000 genomes]
rs13015744	0.86[ASN][1000 genomes]
rs13025331	0.82[ASN][1000 genomes]
rs13027095	0.82[ASN][1000 genomes]
rs13027803	0.84[ASN][1000 genomes]
rs13027853	0.83[ASN][1000 genomes]
rs35968359	0.83[ASN][1000 genomes]
rs3791654	0.81[ASN][1000 genomes]
rs4322879	0.82[ASN][1000 genomes]
rs6753530	0.80[ASN][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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 target site	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55748000-55793800	Weak transcription	Psoas Muscle	Psoas
2	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55769600-55816000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55770400-55818200	Weak transcription	Small Intestine	intestine
5	chr2:55770600-55821600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:55770800-55815800	Strong transcription	Liver	Liver
7	chr2:55775200-55798000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr2:55776000-55789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:55779400-55792200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:55779400-55793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:55779400-55795000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:55779400-55798200	Strong transcription	Placenta	Placenta
13	chr2:55779400-55801400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:55779600-55793400	Strong transcription	Adipose Nuclei	Adipose
15	chr2:55779600-55797400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:55779600-55816200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:55779600-55831400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:55780000-55791600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:55780000-55792200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:55780000-55792600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:55780000-55801400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:55780200-55792200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:55781000-55792000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:55781200-55792000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:55781200-55794200	Strong transcription	Fetal Lung	lung
26	chr2:55781400-55791200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:55781600-55808800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:55782200-55797400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:55783000-55789800	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:55783000-55791800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:55783400-55792000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:55783600-55791000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:55783800-55789800	Strong transcription	Spleen	Spleen
34	chr2:55783800-55790200	Strong transcription	Brain Hippocampus Middle	brain
35	chr2:55783800-55790800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:55783800-55797000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:55784000-55789600	Weak transcription	Fetal Heart	heart
38	chr2:55784000-55790600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:55784000-55790800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:55784000-55792400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:55784200-55791000	Strong transcription	Left Ventricle	heart
42	chr2:55784200-55792200	Strong transcription	Fetal Intestine Large	intestine
43	chr2:55784200-55795400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:55785000-55805000	Weak transcription	NHEK	skin
45	chr2:55786000-55789600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:55786200-55789600	Weak transcription	NHDF-Ad	bronchial
47	chr2:55786400-55790200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr2:55786400-55792000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:55786600-55791400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:55786600-55791400	Strong transcription	Brain Inferior Temporal Lobe	brain

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