Variant report

Variant	rs28371100
Chromosome Location	chr7:140626248-140626249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:140626242-140626603	HepG2	liver:	n/a	chr7:140626416-140626425

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140625504..140628313-chr7:140642636..140644756,2	K562	blood:
2	chr7:140625343..140628260-chr7:140713839..140715821,2	MCF-7	breast:
3	chr7:140624883..140626746-chr7:140635141..140637023,2	K562	blood:
4	chr7:140395267..140398426-chr7:140622802..140626309,6	K562	blood:
5	chr7:140395805..140398704-chr7:140623265..140626329,4	K562	blood:
6	chr7:140554945..140557362-chr7:140625940..140628286,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
BRAF	TF binding region
ENSG00000090266	Chromatin interaction
ENSG00000090263	Chromatin interaction
ENSG00000240889	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10224321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10225223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233009	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241940	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245975	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252634	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255271	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255476	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278608	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279071	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11974522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437830	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr7:140625200-140627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:140625200-140627400	Weak transcription	Small Intestine	intestine
3	chr7:140625400-140627000	Enhancers	Fetal Heart	heart
4	chr7:140625400-140628000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:140625400-140628000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:140625600-140626400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:140625600-140626600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:140625600-140628000	Weak transcription	NHEK	skin
9	chr7:140625600-140628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:140625800-140626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:140626000-140628200	Weak transcription	Aorta	Aorta

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Input of quick search could be:

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

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