Variant report

Variant	rs71316685
Chromosome Location	chr21:40989064-40989065
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40895232..40897422-chr21:40987219..40990019,2	MCF-7	breast:
2	chr21:40982420..40985102-chr21:40988294..40990450,2	MCF-7	breast:
3	chr21:40976514..40978882-chr21:40987659..40990131,2	MCF-7	breast:
4	chr21:40986802..40989122-chr21:41045623..41048115,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184809	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11088488	0.90[ASN][1000 genomes]
rs13051335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71316684	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71316686	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40985600-41002400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:40985600-41008400	Weak transcription	Pancreas	Pancrea
3	chr21:40986000-40992400	Weak transcription	Fetal Heart	heart
4	chr21:40986000-41004200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:40986800-40991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:40987000-40989400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:40987000-40999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:40987200-40989200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:40987200-40989600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:40987200-40990000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr21:40987200-40990000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr21:40987200-40990200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:40987400-40990200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr21:40987600-40996200	Weak transcription	Brain Anterior Caudate	brain
15	chr21:40987800-40989600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:40987800-40992400	Weak transcription	Stomach Mucosa	stomach
17	chr21:40988200-40989200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr21:40988200-40989400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr21:40988200-40989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:40988400-40989400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr21:40988600-40989600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:40988800-40989600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr21:40988800-40992600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr21:40988800-40996800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr21:40989000-40989600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links