Variant report

Variant	rs212710
Chromosome Location	chr2:32455578-32455579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32450716..32453123-chr2:32453250..32456033,3	MCF-7	breast:
2	chr2:32449383..32452935-chr2:32453353..32456316,4	K562	blood:
3	chr2:32449383..32451061-chr2:32453847..32456316,2	K562	blood:
4	chr2:32451148..32452935-chr2:32453528..32455785,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11691939	0.80[EUR][1000 genomes]
rs13006495	0.81[EUR][1000 genomes]
rs177082	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs212682	0.86[EUR][1000 genomes]
rs212684	0.87[EUR][1000 genomes]
rs212689	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs212690	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs212691	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs212696	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs212702	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212736	0.84[AMR][1000 genomes]
rs212751	0.85[EUR][1000 genomes]
rs212754	0.85[EUR][1000 genomes]
rs212761	0.86[EUR][1000 genomes]
rs2294178	0.81[EUR][1000 genomes]
rs34197800	0.81[EUR][1000 genomes]
rs35978916	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs375050	0.85[EUR][1000 genomes]
rs462878	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56322034	0.82[EUR][1000 genomes]
rs7574000	0.80[EUR][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS 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 target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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 target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
2	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:32445800-32461400	Weak transcription	Psoas Muscle	Psoas
5	chr2:32446200-32456400	Weak transcription	NHLF	lung
6	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:32448200-32458400	Weak transcription	NHDF-Ad	bronchial
8	chr2:32448200-32460800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:32448200-32462400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:32448400-32474800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:32448600-32460800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:32448800-32456600	Weak transcription	Pancreas	Pancrea
13	chr2:32448800-32457000	Weak transcription	HMEC	breast
14	chr2:32448800-32457800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:32448800-32459000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:32448800-32465400	Weak transcription	Osteobl	bone
17	chr2:32448800-32467000	Weak transcription	Left Ventricle	heart
18	chr2:32448800-32475600	Weak transcription	Lung	lung
19	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:32449000-32459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:32449000-32463200	Weak transcription	HSMMtube	muscle
22	chr2:32450600-32459400	Weak transcription	NHEK	skin
23	chr2:32451400-32456800	Weak transcription	A549	lung
24	chr2:32451400-32457000	Weak transcription	Primary B cells from cord blood	blood
25	chr2:32451400-32462800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:32451400-32463200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:32451400-32466400	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:32451600-32457600	Weak transcription	Ovary	ovary
29	chr2:32451600-32458400	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:32451600-32459400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:32451600-32459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:32451600-32459600	Weak transcription	Aorta	Aorta
33	chr2:32451600-32459600	Weak transcription	HSMM	muscle
34	chr2:32451600-32459800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:32451600-32459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:32451600-32460000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:32451600-32460600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:32451600-32461200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:32451600-32461400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:32451600-32461400	Weak transcription	Fetal Stomach	stomach
41	chr2:32451600-32462000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:32451600-32463200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:32451600-32464000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:32451600-32464000	Weak transcription	NH-A	brain
45	chr2:32451600-32464800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:32451600-32466200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:32451600-32466400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:32451600-32475600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:32451800-32467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:32452000-32475400	Weak transcription	Spleen	Spleen

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