Variant report

Variant	rs2592103
Chromosome Location	chr2:233765652-233765653
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1562288	0.80[ASN][1000 genomes]
rs2166441	0.80[ASN][1000 genomes]
rs2257942	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2592121	0.81[ASN][1000 genomes]
rs2675969	0.82[EUR][1000 genomes]
rs778337	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs778343	0.81[EUR][1000 genomes]
rs778357	0.83[EUR][1000 genomes]
rs778359	0.83[EUR][1000 genomes]
rs778362	0.83[EUR][1000 genomes]
rs778367	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs809017	0.87[ASN][1000 genomes]
rs895431	0.81[ASN][1000 genomes]
rs895434	0.82[EUR][1000 genomes]
rs967465	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	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	esv3347415	chr2:233761608-233765906	Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	esv2443215	chr2:233764060-233765687	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
12	esv3324674	chr2:233764312-233765807	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv8097	chr2:233764380-233765782	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233749400-233766000	Weak transcription	A549	lung
2	chr2:233751000-233766000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:233757000-233766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:233757000-233766200	Weak transcription	Fetal Brain Female	brain
6	chr2:233757000-233766400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:233759400-233765800	Weak transcription	Esophagus	oesophagus
11	chr2:233759800-233766000	Weak transcription	Colonic Mucosa	Colon
12	chr2:233759800-233766400	Weak transcription	HepG2	liver
13	chr2:233761000-233765800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:233763200-233766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:233763600-233766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:233764000-233766200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:233764000-233766200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:233764000-233768800	Weak transcription	Gastric	stomach
19	chr2:233764000-233783800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:233764200-233765800	Weak transcription	NHLF	lung
21	chr2:233764200-233766200	Weak transcription	Liver	Liver
22	chr2:233764200-233766200	Weak transcription	Spleen	Spleen
23	chr2:233764200-233766400	Weak transcription	Ovary	ovary
24	chr2:233764400-233765800	Weak transcription	HUVEC	blood vessel
25	chr2:233764400-233766000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:233765400-233765800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr2:233765400-233765800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr2:233765400-233765800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr2:233765400-233765800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:233765400-233765800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:233765400-233766600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:233765400-233766600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr2:233765400-233767200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:233765400-233767200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:233765600-233765800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:233765600-233765800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:233765600-233765800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:233765600-233766200	Enhancers	Hela-S3	cervix
39	chr2:233765600-233766400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr2:233765600-233766400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:233765600-233766600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:233765600-233767000	Strong transcription	Fetal Intestine Small	intestine
43	chr2:233765600-233767200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr2:233765600-233767200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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