Variant report

Variant	rs9937049
Chromosome Location	chr16:71916335-71916336
allele	C/G
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	CTCF	chr16:71916287-71916669	K562	blood:	n/a	n/a
2	RAD21	chr16:71916276-71916602	MCF-7	breast:	n/a	n/a
3	SPI1	chr16:71916317-71916628	GM12878	blood:	n/a	n/a
4	CTCF	chr16:71916280-71916719	K562	blood:	n/a	n/a
5	PML	chr16:71916219-71916862	GM12878	blood:	n/a	n/a
6	ZNF143	chr16:71916294-71916756	GM12878	blood:	n/a	n/a
7	SMC3	chr16:71916315-71916687	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr16:71916289-71916552	GM12878	blood:	n/a	n/a
9	RAD21	chr16:71916300-71916665	IMR90	lung:	n/a	n/a
10	ATF2	chr16:71916243-71916778	GM12878	blood:	n/a	n/a
11	PAX5	chr16:71916331-71916767	GM12878	blood:	n/a	chr16:71916525-71916544
12	RAD21	chr16:71916262-71916689	A549	lung:	n/a	n/a
13	POU2F2	chr16:71916282-71916751	GM12878	blood:	n/a	n/a
14	RAD21	chr16:71916303-71916679	HepG2	liver:	n/a	n/a
15	RCOR1	chr16:71916334-71916630	K562	blood:	n/a	n/a
16	CTCF	chr16:71916309-71916592	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr16:71916295-71916681	A549	lung:	n/a	n/a
18	CTCF	chr16:71916314-71916633	HUVEC	blood vessel:	n/a	n/a
19	ZNF143	chr16:71916330-71916664	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr16:71916288-71916804	SK-N-SH	brain:	n/a	n/a
21	PAX5	chr16:71916335-71916817	GM12891	blood:	n/a	chr16:71916525-71916544
22	CTCF	chr16:71916303-71916560	A549	lung:	n/a	n/a
23	RAD21	chr16:71916260-71916812	MCF-7	breast:	n/a	n/a
24	EBF1	chr16:71916310-71916682	GM12878	blood:	n/a	n/a
25	CTCF	chr16:71916117-71918628	SK-N-SH	brain:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
26	CTCF	chr16:71916321-71916630	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr16:71916290-71916670	MCF-7	breast:	n/a	n/a
28	POU2F2	chr16:71916307-71916685	GM12878	blood:	n/a	n/a
29	RAD21	chr16:71916276-71916694	Hela-S3	cervix:	n/a	n/a
30	REST	chr16:71916268-71918981	H1-neurons	neurons:	n/a	chr16:71917704-71917722 chr16:71917883-71917896 chr16:71918681-71918699 chr16:71918681-71918694 chr16:71917886-71917899 chr16:71918678-71918691 chr16:71917703-71917723
31	SPI1	chr16:71916288-71916698	HL-60	blood:	n/a	n/a
32	ATF2	chr16:71916219-71916867	GM12878	blood:	n/a	n/a
33	RAD21	chr16:71916315-71916654	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr16:71916275-71916717	GM12878	blood:	n/a	n/a
35	RAD21	chr16:71916237-71916732	ECC-1	luminal epithelium:	n/a	n/a
36	E2F4	chr16:71916273-71916645	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr16:71916155-71916835	HCT-116	colon:	n/a	n/a
38	PAX5	chr16:71916258-71916878	GM12878	blood:	n/a	chr16:71916323-71916332 chr16:71916525-71916544
39	MYC	chr16:71916272-71916643	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr16:71916225-71916758	A549	lung:	n/a	n/a
41	RUNX3	chr16:71916313-71917171	GM12878	blood:	n/a	chr16:71916684-71916699
42	CUX1	chr16:71916318-71917464	GM12878	blood:	n/a	n/a
43	CTCF	chr16:71916290-71916918	IMR90	lung:	n/a	n/a
44	ARID3A	chr16:71916263-71916662	K562	blood:	n/a	n/a
45	SMC3	chr16:71916296-71916676	GM12878	blood:	n/a	n/a
46	RAD21	chr16:71916309-71916661	GM12878	blood:	n/a	n/a
47	ARID3A	chr16:71916292-71916755	HepG2	liver:	n/a	n/a
48	RAD21	chr16:71916321-71916641	H1-hESC	embryonic stem cell:	n/a	n/a
49	SMC3	chr16:71916289-71918777	SK-N-SH	brain:	n/a	n/a
50	FOXM1	chr16:71916246-71917074	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
2	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
3	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
4	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
5	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
6	chr16:71916310..71918495-chr16:71961448..71964132,2	K562	blood:
7	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
8	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:

Variant related genes	Relation type
ZNF821	TF binding region
IST1	TF binding region
ENSG00000261765	TF binding region
ENSG00000166747	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000224470	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13334617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335391	1.00[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	0.93[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590039	0.90[AFR][1000 genomes]
rs73590051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027713	0.93[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9673858	0.90[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933862	1.00[AMR][1000 genomes]
rs9937974	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941356	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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
3	chr16:71888000-71916400	Weak transcription	NHEK	skin
4	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:71896800-71916600	Weak transcription	NHLF	lung
7	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
9	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
10	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus
13	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
14	chr16:71899600-71916600	Weak transcription	Colonic Mucosa	Colon
15	chr16:71899800-71916800	Weak transcription	Brain Substantia Nigra	brain
16	chr16:71900200-71917200	Weak transcription	Gastric	stomach
17	chr16:71902200-71916800	Weak transcription	Aorta	Aorta
18	chr16:71902600-71916600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:71904000-71916600	Weak transcription	Fetal Heart	heart
20	chr16:71911200-71916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:71911600-71917000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:71911600-71917000	Weak transcription	Lung	lung
23	chr16:71912800-71916400	Weak transcription	Fetal Intestine Small	intestine
24	chr16:71913200-71916600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:71913400-71916400	Weak transcription	Hela-S3	cervix
26	chr16:71913600-71916600	Weak transcription	HepG2	liver
27	chr16:71914000-71916400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr16:71914200-71916400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:71914200-71917000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr16:71914600-71916400	Enhancers	Primary B cells from peripheral blood	blood
31	chr16:71914600-71916400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:71914600-71916600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:71914600-71916600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr16:71914600-71916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:71914600-71917000	Weak transcription	Ovary	ovary
36	chr16:71914800-71916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:71914800-71916400	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:71914800-71916400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr16:71914800-71916400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:71914800-71916400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:71914800-71916400	Enhancers	HUVEC	blood vessel
42	chr16:71914800-71916600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:71914800-71916600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:71914800-71916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:71914800-71916800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:71914800-71916800	Weak transcription	Spleen	Spleen
47	chr16:71914800-71917000	Weak transcription	Left Ventricle	heart
48	chr16:71914800-71918800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr16:71915000-71916400	Weak transcription	Brain Angular Gyrus	brain
50	chr16:71915000-71916400	Weak transcription	Brain Anterior Caudate	brain

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