Variant report

Variant	rs62448277
Chromosome Location	chr7:51081688-51081689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:51081631-51081872	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:51081619-51082800	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:51080818-51084697	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:51074031..51076434-chr7:51079718..51082279,2	K562	blood:
2	chr7:51079705..51082657-chr7:51083571..51086841,4	K562	blood:

Variant related genes	Relation type
ENSG00000228204	TF binding region
ENSG00000228204	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv830999	chr7:51020735-51164809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1015410	chr7:51061988-51532557	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv538837	chr7:51061988-51532557	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3427788	chr7:51081563-51081836	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3502651	chr7:51081584-51081816	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3502655	chr7:51081588-51081775	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3502653	chr7:51081617-51081783	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3395467	chr7:51081637-51081753	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3502654	chr7:51081658-51081735	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3477973	chr7:51081662-51081738	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3502656	chr7:51081672-51081737	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv994661	chr7:51081675-51081732	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv366091	chr7:51081676-51081733	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1332935	chr7:51081676-51081734	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3477974	chr7:51081676-51081735	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3502657	chr7:51081676-51081735	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51077000-51083200	Enhancers	Fetal Heart	heart
2	chr7:51077400-51082600	Enhancers	Right Ventricle	heart
3	chr7:51078000-51089600	Weak transcription	Gastric	stomach
4	chr7:51078200-51087200	Weak transcription	Lung	lung
5	chr7:51078200-51092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:51078200-51094800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:51078200-51095000	Weak transcription	Hela-S3	cervix
8	chr7:51078800-51092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:51079800-51088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:51080400-51086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:51081200-51082800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:51081200-51082800	Enhancers	Pancreas	Pancrea
13	chr7:51081400-51089600	Weak transcription	Right Atrium	heart
14	chr7:51081400-51092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:51081600-51081800	Enhancers	Left Ventricle	heart
16	chr7:51081600-51083200	Weak transcription	Fetal Intestine Small	intestine

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