Variant report

Variant	rs372948048
Chromosome Location	chr2:233763062-233763063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233755071..233758000-chr2:233760102..233763754,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066248	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
7	esv3374055	chr2:233760233-233763081	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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:27 , 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	chr2:233756200-233763600	Weak transcription	NHLF	lung
4	chr2:233756400-233763800	Weak transcription	Right Atrium	heart
5	chr2:233756600-233763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:233756800-233765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:233757000-233765400	Weak transcription	Pancreas	Pancrea
9	chr2:233757000-233766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:233757000-233766200	Weak transcription	Fetal Brain Female	brain
11	chr2:233757000-233766400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:233757200-233763400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:233757600-233763400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:233757800-233763400	Weak transcription	Gastric	stomach
16	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:233759000-233763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:233759400-233763400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:233759400-233765800	Weak transcription	Esophagus	oesophagus
21	chr2:233759800-233763200	Weak transcription	Liver	Liver
22	chr2:233759800-233763400	Weak transcription	Spleen	Spleen
23	chr2:233759800-233766000	Weak transcription	Colonic Mucosa	Colon
24	chr2:233759800-233766400	Weak transcription	HepG2	liver
25	chr2:233761000-233765800	Weak transcription	Brain Anterior Caudate	brain
26	chr2:233761800-233763600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:233762800-233764000	Strong transcription	Duodenum Mucosa	Duodenum

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