Variant report

Variant	rs572611432
Chromosome Location	chr2:233749296-233749297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233739591..233745527-chr2:233747956..233752237,8	MCF-7	breast:
2	chr2:233748378..233751543-chr2:233754163..233756692,4	MCF-7	breast:
3	chr2:233746971..233749458-chr2:233835179..233837399,2	K562	blood:

Variant related genes	Relation type
ENSG00000066248	Chromatin interaction
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3398860	chr2:233747791-233753092	ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3341375	chr2:233748808-233753106	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
2	chr2:233741600-233749600	Weak transcription	Pancreas	Pancrea
3	chr2:233741800-233750000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:233742200-233749800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:233742200-233750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:233742200-233750800	Weak transcription	Fetal Brain Male	brain
7	chr2:233742400-233752400	Weak transcription	Colonic Mucosa	Colon
8	chr2:233742400-233754200	Strong transcription	Fetal Intestine Small	intestine
9	chr2:233742400-233755600	Weak transcription	Fetal Intestine Large	intestine
10	chr2:233742600-233753400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:233742800-233755600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:233743000-233753000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:233743000-233755800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:233743200-233759600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:233744600-233755400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:233745200-233753000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:233745200-233755600	Weak transcription	Brain Angular Gyrus	brain
18	chr2:233745200-233755800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:233745600-233759800	Strong transcription	Liver	Liver
20	chr2:233746000-233753200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:233746200-233749800	Strong transcription	HepG2	liver
22	chr2:233746200-233753000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:233747800-233750800	Weak transcription	Fetal Brain Female	brain
24	chr2:233748400-233749400	Strong transcription	A549	lung
25	chr2:233748400-233750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:233748400-233750800	Weak transcription	Gastric	stomach
27	chr2:233748600-233751000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:233748800-233749600	ZNF genes & repeats	Esophagus	oesophagus
29	chr2:233748800-233751000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:233749000-233749400	Genic enhancers	Brain Anterior Caudate	brain
31	chr2:233749000-233749800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:233749000-233752800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:233749200-233749600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:233749200-233749600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr2:233749200-233750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:233749200-233753000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:233749200-233755600	Weak transcription	NHLF	lung

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