Variant report

Variant	rs28988574
Chromosome Location	chr7:99380021-99380022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:99379980-99380130	MCF-7	breast:	n/a	n/a
2	CTCF	chr7:99379946-99380130	K562	blood:	n/a	n/a
3	CTCF	chr7:99379960-99380110	HEK293	kidney:	n/a	n/a
4	CTCF	chr7:99379904-99380157	K562	blood:	n/a	n/a
5	RAD21	chr7:99379850-99380253	HepG2	liver:	n/a	n/a
6	RAD21	chr7:99379948-99380115	HepG2	liver:	n/a	n/a
7	CTCF	chr7:99379920-99380070	RPTEC	kidney:	n/a	n/a
8	CTCF	chr7:99379940-99380090	HepG2	liver:	n/a	n/a
9	RAD21	chr7:99379901-99380239	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:99379900-99380050	GM12872	blood:	n/a	n/a
11	CTCF	chr7:99380003-99380091	HepG2	liver:	n/a	n/a
12	RAD21	chr7:99379703-99380244	HepG2	liver:	n/a	n/a
13	RAD21	chr7:99379927-99380174	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:99379980-99380130	K562	blood:	n/a	n/a
15	RAD21	chr7:99379949-99380148	K562	blood:	n/a	n/a
16	CTCF	chr7:99379926-99380103	HepG2	liver:	n/a	n/a
17	CTCF	chr7:99379940-99380090	HMEC	breast:	n/a	n/a
18	SMC3	chr7:99379918-99380106	HepG2	liver:	n/a	n/a
19	RAD21	chr7:99379785-99380223	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99374500..99377711-chr7:99378798..99381871,3	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41300731	1.00[AMR][1000 genomes]
rs41300734	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3450108	chr7:99339737-99383419	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482109	chr7:99354604-99381808	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv970558	chr7:99358519-99389907	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99375800-99380800	Weak transcription	Fetal Intestine Large	intestine
2	chr7:99379200-99380600	Enhancers	HepG2	liver
3	chr7:99379200-99381800	Active TSS	Liver	Liver
4	chr7:99379200-99382000	Active TSS	Duodenum Mucosa	Duodenum
5	chr7:99379800-99380200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:99379800-99380200	Enhancers	Pancreas	Pancrea
7	chr7:99379800-99387000	Enhancers	Fetal Intestine Small	intestine
8	chr7:99380000-99380200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:99380000-99380400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:99380000-99380400	Enhancers	Esophagus	oesophagus
11	chr7:99380000-99380400	Enhancers	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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