Variant report

Variant	rs13337017
Chromosome Location	chr16:75272367-75272368
allele	C/T
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	POLR2A	chr16:75272336-75272843	SK-N-SH	brain:	n/a	n/a
2	FOXP2	chr16:75272269-75272639	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr16:75272025-75273018	HepG2	liver:	n/a	n/a
4	FOXA1	chr16:75272086-75272470	HepG2	liver:	n/a	n/a
5	MXI1	chr16:75271894-75273986	IMR90	lung:	n/a	n/a
6	MEF2A	chr16:75272228-75273104	SK-N-SH	brain:	n/a	chr16:75273061-75273069 chr16:75272669-75272690 chr16:75272671-75272686 chr16:75272669-75272690 chr16:75272670-75272686 chr16:75272674-75272683 chr16:75272671-75272685 chr16:75272673-75272684 chr16:75272670-75272685
7	RAD21	chr16:75272322-75272863	SK-N-SH_RA	brain:	n/a	chr16:75272831-75272845 chr16:75272827-75272841 chr16:75272468-75272482 chr16:75272469-75272483
8	MEF2A	chr16:75272062-75273079	SK-N-SH	brain:	n/a	chr16:75273061-75273069 chr16:75272669-75272690 chr16:75272671-75272686 chr16:75272669-75272690 chr16:75272670-75272686 chr16:75272674-75272683 chr16:75272671-75272685 chr16:75272673-75272684 chr16:75272670-75272685
9	SP1	chr16:75272013-75272553	HepG2	liver:	n/a	chr16:75272338-75272347 chr16:75272337-75272349 chr16:75272337-75272349 chr16:75272338-75272348 chr16:75272339-75272348
10	RXRA	chr16:75271994-75272506	HepG2	liver:	n/a	n/a
11	ZBTB7A	chr16:75271854-75272527	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:75267324-75275839	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr16:75272311-75273655	HUVEC	blood vessel:	n/a	n/a
14	PBX3	chr16:75272145-75273218	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr16:75272317-75273276	HUVEC	blood vessel:	n/a	n/a
16	FOSL2	chr16:75271971-75272450	HepG2	liver:	n/a	chr16:75271989-75272000
17	NFIC	chr16:75272182-75272980	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr16:75272074-75273241	IMR90	lung:	n/a	chr16:75273031-75273050 chr16:75272831-75272845 chr16:75272827-75272841 chr16:75272468-75272482 chr16:75272469-75272483 chr16:75273029-75273042
19	MAX	chr16:75272341-75273094	SK-N-SH	brain:	n/a	chr16:75272890-75272897 chr16:75273061-75273070
20	NR3C1	chr16:75271975-75272493	A549	lung:	n/a	n/a
21	FOXA1	chr16:75271997-75272578	HepG2	liver:	n/a	n/a
22	NFIC	chr16:75272014-75273088	SK-N-SH	brain:	n/a	n/a
23	HNF4G	chr16:75272044-75272538	HepG2	liver:	n/a	chr16:75272405-75272413 chr16:75272091-75272113
24	JUND	chr16:75272176-75272390	HepG2	liver:	n/a	n/a
25	EP300	chr16:75272150-75273108	SK-N-SH	brain:	n/a	chr16:75272463-75272479 chr16:75272460-75272476 chr16:75273061-75273070
26	NFIC	chr16:75271961-75272428	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:75271963-75274353	HepG2	liver:	n/a	n/a
28	MAZ	chr16:75272141-75272456	HepG2	liver:	n/a	n/a
29	TEAD4	chr16:75272057-75272487	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:75272188-75273763	U87	brain:	n/a	n/a
31	ZBTB7A	chr16:75271956-75272583	HepG2	liver:	n/a	n/a
32	JUND	chr16:75272084-75272430	HepG2	liver:	n/a	n/a
33	TEAD4	chr16:75272205-75273090	SK-N-SH	brain:	n/a	n/a
34	EP300	chr16:75271890-75272586	HepG2	liver:	n/a	chr16:75272463-75272479 chr16:75272460-75272476
35	EP300	chr16:75272039-75272407	HepG2	liver:	n/a	n/a
36	TCF12	chr16:75272093-75273044	SK-N-SH	brain:	n/a	chr16:75272318-75272328 chr16:75272108-75272116
37	NR3C1	chr16:75272040-75272411	A549	lung:	n/a	n/a
38	NR3C1	chr16:75271924-75272449	A549	lung:	n/a	n/a
39	HDAC2	chr16:75271939-75272539	HepG2	liver:	n/a	n/a
40	MYC	chr16:75272251-75272492	HepG2	liver:	n/a	n/a
41	POLR2A	chr16:75272182-75273850	U87	brain:	n/a	n/a
42	RXRA	chr16:75272038-75272977	SK-N-SH	brain:	n/a	n/a
43	MYBL2	chr16:75271901-75272534	HepG2	liver:	n/a	n/a
44	CHD2	chr16:75272210-75272467	HepG2	liver:	n/a	n/a
45	TCF7L2	chr16:75272164-75272391	HepG2	liver:	n/a	chr16:75272263-75272272 chr16:75272259-75272275 chr16:75272259-75272275
46	MAZ	chr16:75271480-75274285	IMR90	lung:	n/a	chr16:75273779-75273788 chr16:75272890-75272897 chr16:75273779-75273789 chr16:75271860-75271870 chr16:75273778-75273791 chr16:75273779-75273790 chr16:75273780-75273789 chr16:75273781-75273788 chr16:75274103-75274112 chr16:75273061-75273070 chr16:75273780-75273790 chr16:75273435-75273445
47	CEBPD	chr16:75271860-75272607	HepG2	liver:	n/a	n/a
48	EP300	chr16:75272144-75272549	HepG2	liver:	n/a	chr16:75272463-75272479 chr16:75272460-75272476
49	FOXA2	chr16:75272099-75272424	HepG2	liver:	n/a	n/a
50	NFIC	chr16:75272043-75272512	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75271441..75274374-chr6:74228830..74231678,2	MCF-7	breast:
2	chr16:75271644..75278130-chr16:75410170..75415316,7	MCF-7	breast:
3	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
4	chr16:75271315..75273372-chr16:75275391..75277280,2	K562	blood:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000261783	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1035539	0.91[ASN][1000 genomes]
rs11645191	0.90[ASN][1000 genomes]
rs13331385	0.90[EUR][1000 genomes]
rs13337397	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2287990	0.90[EUR][1000 genomes]
rs28439846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28595463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28690217	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2870463	0.85[EUR][1000 genomes]
rs3743614	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3826110	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56787417	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60470336	0.85[EUR][1000 genomes]
rs60852020	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60879082	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61634868	0.85[EUR][1000 genomes]
rs6564232	0.85[EUR][1000 genomes]
rs6564233	0.85[EUR][1000 genomes]
rs6564234	0.85[EUR][1000 genomes]
rs6564236	0.85[EUR][1000 genomes]
rs6564237	0.85[EUR][1000 genomes]
rs66473537	0.85[EUR][1000 genomes]
rs66535165	0.85[EUR][1000 genomes]
rs66881382	0.85[EUR][1000 genomes]
rs67478528	0.85[EUR][1000 genomes]
rs7185352	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7197389	0.85[EUR][1000 genomes]
rs7197746	0.85[EUR][1000 genomes]
rs7202844	0.85[EUR][1000 genomes]
rs7202858	0.83[EUR][1000 genomes]
rs7202877	0.85[EUR][1000 genomes]
rs72802372	0.85[EUR][1000 genomes]
rs72802375	0.85[EUR][1000 genomes]
rs72804106	0.99[EUR][1000 genomes]
rs73605136	0.83[EUR][1000 genomes]
rs73605139	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8046145	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8048529	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8053595	0.85[EUR][1000 genomes]
rs8054218	0.85[EUR][1000 genomes]
rs8063014	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9921586	0.86[EUR][1000 genomes]
rs9940370	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75261400-75272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
5	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:75267200-75272800	Genic enhancers	NHLF	lung
8	chr16:75267600-75273600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:75268000-75277200	Genic enhancers	Spleen	Spleen
10	chr16:75268200-75277000	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr16:75268400-75275600	Weak transcription	GM12878-XiMat	blood
12	chr16:75268600-75272800	Weak transcription	Hela-S3	cervix
13	chr16:75268600-75277800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:75268800-75272400	Strong transcription	HUVEC	blood vessel
15	chr16:75268800-75272400	Strong transcription	NHEK	skin
16	chr16:75268800-75272600	Weak transcription	Stomach Mucosa	stomach
17	chr16:75268800-75275000	Weak transcription	K562	blood
18	chr16:75269000-75273800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:75269800-75272400	Genic enhancers	Pancreas	Pancrea
21	chr16:75269800-75272800	Strong transcription	Fetal Intestine Large	intestine
22	chr16:75269800-75274800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:75270400-75272800	Weak transcription	HSMMtube	muscle
24	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:75270600-75272400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:75270600-75272800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:75270600-75274800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr16:75270800-75272800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:75270800-75272800	Enhancers	NH-A	brain
31	chr16:75271000-75272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:75271000-75272800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:75271000-75273000	Weak transcription	Aorta	Aorta
34	chr16:75271000-75273800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:75271000-75275000	Enhancers	Brain Substantia Nigra	brain
36	chr16:75271000-75275400	Genic enhancers	Fetal Stomach	stomach
37	chr16:75271200-75272600	Enhancers	Brain Cingulate Gyrus	brain
38	chr16:75271200-75274000	Enhancers	Rectal Smooth Muscle	rectum
39	chr16:75271200-75274200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:75271200-75274800	Enhancers	Left Ventricle	heart
41	chr16:75271200-75275000	Enhancers	Fetal Brain Male	brain
42	chr16:75271200-75278000	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr16:75271400-75272400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr16:75271400-75272400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr16:75271400-75272800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr16:75271400-75273000	Enhancers	Fetal Lung	lung
47	chr16:75271400-75274000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:75271400-75275200	Enhancers	Right Atrium	heart
49	chr16:75271600-75272400	Transcr. at gene 5' and 3'	HepG2	liver
50	chr16:75271600-75272800	Enhancers	Brain Angular Gyrus	brain

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