Variant report

Variant	rs7569026
Chromosome Location	chr2:233766116-233766117
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57218566	1.00[AMR][1000 genomes]
rs6708294	1.00[AMR][1000 genomes]
rs73094946	1.00[AMR][1000 genomes]
rs9917365	1.00[AMR][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3349659	chr2:233762108-233766506	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3352439	chr2:233762108-233766706	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3412327	chr2:233762308-233766506	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3437356	chr2:233762908-233767406	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:233757000-233766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:233757000-233766200	Weak transcription	Fetal Brain Female	brain
4	chr2:233757000-233766400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:233759800-233766400	Weak transcription	HepG2	liver
9	chr2:233763200-233766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:233764000-233766200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:233764000-233766200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:233764000-233768800	Weak transcription	Gastric	stomach
13	chr2:233764000-233783800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:233764200-233766200	Weak transcription	Liver	Liver
15	chr2:233764200-233766200	Weak transcription	Spleen	Spleen
16	chr2:233764200-233766400	Weak transcription	Ovary	ovary
17	chr2:233765400-233766600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:233765400-233766600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr2:233765400-233767200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:233765400-233767200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:233765600-233766200	Enhancers	Hela-S3	cervix
22	chr2:233765600-233766400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr2:233765600-233766400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:233765600-233766600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr2:233765600-233767000	Strong transcription	Fetal Intestine Small	intestine
26	chr2:233765600-233767200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr2:233765600-233767200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:233765800-233766200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr2:233765800-233766200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr2:233765800-233766200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:233765800-233766200	Enhancers	HSMM	muscle
32	chr2:233765800-233766400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr2:233765800-233766400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:233765800-233766400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:233765800-233766400	ZNF genes & repeats	Esophagus	oesophagus
36	chr2:233765800-233766400	Enhancers	NHLF	lung
37	chr2:233765800-233766600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr2:233765800-233766600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:233765800-233766600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr2:233765800-233766600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr2:233765800-233766800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:233765800-233767000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr2:233765800-233767000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr2:233765800-233767200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:233765800-233767400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:233765800-233767400	Enhancers	HMEC	breast
47	chr2:233765800-233767400	Enhancers	HUVEC	blood vessel
48	chr2:233765800-233767800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:233766000-233766200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:233766000-233766200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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