Variant report

Variant	rs9937974
Chromosome Location	chr16:71925301-71925302
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	MAFK	chr16:71925188-71925379	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:71924622..71927002-chr16:71953817..71955560,2	MCF-7	breast:
2	chr16:71924634..71926164-chr16:71990513..71992754,2	MCF-7	breast:
3	chr16:71825737..71827920-chr16:71925001..71926624,2	MCF-7	breast:
4	chr16:71923118..71926504-chr16:71927692..71930407,4	K562	blood:
5	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:
6	chr16:71925187..71928062-chr16:71954742..71956995,2	MCF-7	breast:

No data

Variant related genes	Relation type
IST1	TF binding region
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13334617	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337119	1.00[AMR][1000 genomes]
rs28431030	0.98[AFR][1000 genomes]
rs28450081	1.00[AMR][1000 genomes]
rs28450346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523974	0.90[AFR][1000 genomes]
rs28711364	1.00[AMR][1000 genomes]
rs59358880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499549	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186536	1.00[AMR][1000 genomes]
rs7191105	1.00[AMR][1000 genomes]
rs7198387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202000	1.00[AMR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73582271	1.00[AMR][1000 genomes]
rs73582274	1.00[AMR][1000 genomes]
rs73582278	1.00[AMR][1000 genomes]
rs73582282	1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	1.00[AMR][1000 genomes]
rs73590035	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590039	0.87[AFR][1000 genomes]
rs73590051	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027713	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048947	1.00[AMR][1000 genomes]
rs8051461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9673858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921383	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923154	1.00[AMR][1000 genomes]
rs9923213	1.00[AMR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9928365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932715	1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933862	1.00[AMR][1000 genomes]
rs9937049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941356	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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71918600-71927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:71919200-71927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:71919200-71927800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:71919200-71927800	Weak transcription	Liver	Liver
5	chr16:71919200-71927800	Weak transcription	Hela-S3	cervix
6	chr16:71919200-71928000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:71919600-71927600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr16:71919600-71927800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr16:71919800-71927600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:71920000-71927600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:71923800-71928200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:71924400-71927800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:71924600-71927800	Weak transcription	Primary B cells from cord blood	blood
14	chr16:71924600-71927800	Weak transcription	Placenta	Placenta
15	chr16:71924600-71928200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:71924800-71925400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr16:71924800-71925400	Flanking Active TSS	HepG2	liver
18	chr16:71924800-71927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:71925000-71925400	Flanking Active TSS	A549	lung
20	chr16:71925000-71925400	Flanking Active TSS	K562	blood
21	chr16:71925000-71927800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:71925000-71927800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:71925200-71925400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr16:71925200-71925400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr16:71925200-71927800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:71925200-71927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:71925200-71927800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:71925200-71928000	Weak transcription	Stomach Mucosa	stomach

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