Variant report

Variant	rs9924848
Chromosome Location	chr16:77245971-77245972
allele	A/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	POLR2A	chr16:77245941-77247081	HEK293	kidney:	n/a	n/a
2	SIN3AK20	chr16:77245966-77246566	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr16:77245882-77246578	GM12892	blood:	n/a	n/a
4	TAF1	chr16:77245911-77247928	A549	lung:	n/a	n/a
5	ZEB1	chr16:77245953-77246186	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:77245910-77246546	GM12878	blood:	n/a	n/a
7	KAP1	chr16:77245907-77246273	U2OS	brain:	n/a	n/a
8	EGR1	chr16:77245956-77246481	K562	blood:	n/a	chr16:77246281-77246294 chr16:77246114-77246124 chr16:77246163-77246173
9	POLR2A	chr16:77245886-77246536	SK-N-SH	brain:	n/a	n/a
10	ZBTB7A	chr16:77245881-77246937	ECC-1	luminal epithelium:	n/a	n/a
11	HA-E2F1	chr16:77245792-77246461	MCF-7	breast:	n/a	chr16:77246335-77246344
12	MAX	chr16:77245904-77247126	SK-N-SH	brain:	n/a	chr16:77246597-77246607 chr16:77246115-77246125
13	EGR1	chr16:77245690-77247060	HCT-116	colon:	n/a	chr16:77246281-77246294 chr16:77246562-77246572 chr16:77246114-77246124 chr16:77246163-77246173
14	REST	chr16:77245809-77246517	PFSK-1	brain:	n/a	n/a
15	TCF12	chr16:77245897-77246382	H1-hESC	embryonic stem cell:	n/a	n/a
16	PML	chr16:77245941-77246617	GM12878	blood:	n/a	n/a
17	EP300	chr16:77245892-77246332	H1-hESC	embryonic stem cell:	n/a	n/a
18	UBTF	chr16:77245963-77247079	K562	blood:	n/a	n/a
19	MAZ	chr16:77245924-77247050	GM12878	blood:	n/a	chr16:77246597-77246607 chr16:77246115-77246125
20	YY1	chr16:77245859-77246569	A549	lung:	n/a	chr16:77246147-77246158 chr16:77246302-77246313 chr16:77246309-77246318
21	RCOR1	chr16:77245971-77247052	K562	blood:	n/a	n/a
22	SP1	chr16:77245631-77248366	HCT-116	colon:	n/a	chr16:77246115-77246125 chr16:77245959-77245971 chr16:77247070-77247079 chr16:77246122-77246131 chr16:77246336-77246348 chr16:77245964-77245976 chr16:77246118-77246132 chr16:77246114-77246126 chr16:77246115-77246124 chr16:77246338-77246347 chr16:77246561-77246573 chr16:77245966-77245975 chr16:77246982-77246994 chr16:77246203-77246214 chr16:77245959-77245971 chr16:77246596-77246608 chr16:77245964-77245976 chr16:77246558-77246572 chr16:77246562-77246571 chr16:77246982-77246994 chr16:77247069-77247078 chr16:77246336-77246348 chr16:77245961-77245970 chr16:77246337-77246346 chr16:77246983-77246993 chr16:77246561-77246573 chr16:77245960-77245969 chr16:77246114-77246126 chr16:77246563-77246572 chr16:77246116-77246125 chr16:77246738-77246747 chr16:77246291-77246305
23	POLR2A	chr16:77245904-77246540	U87	brain:	n/a	n/a
24	FOXP2	chr16:77245924-77246378	PFSK-1	brain:	n/a	n/a
25	GATA3	chr16:77245742-77248440	A549	lung:	n/a	chr16:77247924-77247933 chr16:77248147-77248155 chr16:77248276-77248283
26	SP1	chr16:77245821-77246875	A549	lung:	n/a	chr16:77246115-77246125 chr16:77245959-77245971 chr16:77246122-77246131 chr16:77246336-77246348 chr16:77245964-77245976 chr16:77246118-77246132 chr16:77246114-77246126 chr16:77246115-77246124 chr16:77246338-77246347 chr16:77246561-77246573 chr16:77245966-77245975 chr16:77246203-77246214 chr16:77245959-77245971 chr16:77246596-77246608 chr16:77245964-77245976 chr16:77246558-77246572 chr16:77246562-77246571 chr16:77246336-77246348 chr16:77245961-77245970 chr16:77246337-77246346 chr16:77246561-77246573 chr16:77245960-77245969 chr16:77246114-77246126 chr16:77246563-77246572 chr16:77246116-77246125 chr16:77246738-77246747 chr16:77246291-77246305
27	YY1	chr16:77245948-77246575	HepG2	liver:	n/a	chr16:77246147-77246158 chr16:77246302-77246313 chr16:77246309-77246318
28	MAX	chr16:77245808-77247080	ECC-1	luminal epithelium:	n/a	chr16:77246597-77246607 chr16:77246115-77246125
29	POLR2A	chr16:77245922-77246941	GM12878	blood:	n/a	n/a
30	POLR2A	chr16:77245965-77247102	K562	blood:	n/a	n/a
31	SIN3A	chr16:77245765-77247225	H1-hESC	embryonic stem cell:	n/a	chr16:77246335-77246346 chr16:77246302-77246313
32	POLR2A	chr16:77245923-77247199	HUVEC	blood vessel:	n/a	n/a
33	BCL3	chr16:77245732-77246316	A549	lung:	n/a	n/a
34	CHD2	chr16:77245735-77246413	H1-hESC	embryonic stem cell:	n/a	chr16:77246121-77246131 chr16:77245966-77245976
35	SP1	chr16:77245791-77246564	A549	lung:	n/a	chr16:77246115-77246125 chr16:77245959-77245971 chr16:77246122-77246131 chr16:77246336-77246348 chr16:77245964-77245976 chr16:77246118-77246132 chr16:77246114-77246126 chr16:77246115-77246124 chr16:77246338-77246347 chr16:77245966-77245975 chr16:77246203-77246214 chr16:77245959-77245971 chr16:77245964-77245976 chr16:77246336-77246348 chr16:77245961-77245970 chr16:77246337-77246346 chr16:77245960-77245969 chr16:77246114-77246126 chr16:77246116-77246125 chr16:77246291-77246305
36	MAX	chr16:77245745-77248320	A549	lung:	n/a	chr16:77246597-77246607 chr16:77246115-77246125 chr16:77247312-77247319 chr16:77247310-77247323
37	MAX	chr16:77245788-77248194	A549	lung:	n/a	chr16:77246597-77246607 chr16:77246115-77246125 chr16:77247312-77247319 chr16:77247310-77247323
38	EP300	chr16:77245703-77246480	A549	lung:	n/a	n/a
39	MAX	chr16:77245812-77247455	H1-hESC	embryonic stem cell:	n/a	chr16:77246597-77246607 chr16:77246115-77246125 chr16:77247312-77247319 chr16:77247310-77247323
40	TCF3	chr16:77245943-77246398	GM12878	blood:	n/a	chr16:77246105-77246118
41	TCF12	chr16:77245944-77246373	GM12878	blood:	n/a	n/a
42	POLR2A	chr16:77245916-77246554	GM12878	blood:	n/a	n/a
43	POLR2A	chr16:77245900-77247218	GM12878	blood:	n/a	n/a
44	TAF1	chr16:77245879-77247079	ECC-1	luminal epithelium:	n/a	n/a
45	JUND	chr16:77245964-77246604	A549	lung:	n/a	chr16:77246561-77246570 chr16:77246566-77246575
46	POLR2A	chr16:77244938-77247549	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP1	chr16:77245949-77246520	GM12878	blood:	n/a	chr16:77246115-77246125 chr16:77245959-77245971 chr16:77246122-77246131 chr16:77246336-77246348 chr16:77245964-77245976 chr16:77246118-77246132 chr16:77246114-77246126 chr16:77246115-77246124 chr16:77246338-77246347 chr16:77245966-77245975 chr16:77246203-77246214 chr16:77245959-77245971 chr16:77245964-77245976 chr16:77246336-77246348 chr16:77245961-77245970 chr16:77246337-77246346 chr16:77245960-77245969 chr16:77246114-77246126 chr16:77246116-77246125 chr16:77246291-77246305
48	REST	chr16:77245867-77247300	H1-neurons	neurons:	n/a	chr16:77246649-77246669 chr16:77246741-77246751
49	TCF12	chr16:77245531-77246644	A549	lung:	n/a	n/a
50	TCF12	chr16:77245931-77246254	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:77224814..77227187-chr16:77245098..77247161,3	K562	blood:
2	chr16:77223598..77226407-chr16:77245076..77246907,2	MCF-7	breast:
3	chr16:77223923..77226639-chr16:77244818..77248823,8	K562	blood:
4	chr16:77225300..77227094-chr16:77244120..77246217,2	MCF-7	breast:

Variant related genes	Relation type
SYCE1L	TF binding region
ENSG00000103111	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11862987	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12446458	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72798545	0.82[ASN][1000 genomes]
rs72798546	0.84[AMR][1000 genomes]
rs72798551	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72800017	0.87[ASN][1000 genomes]
rs72800022	0.87[ASN][1000 genomes]
rs72800028	0.87[ASN][1000 genomes]
rs72800029	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77227000-77246000	Weak transcription	Fetal Heart	heart
2	chr16:77227200-77247200	Weak transcription	Hela-S3	cervix
3	chr16:77233400-77246000	Weak transcription	Aorta	Aorta
4	chr16:77233400-77246000	Weak transcription	Brain Angular Gyrus	brain
5	chr16:77233400-77246000	Weak transcription	Brain Substantia Nigra	brain
6	chr16:77233800-77246000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:77233800-77246000	Weak transcription	HSMMtube	muscle
8	chr16:77234200-77246000	Weak transcription	Lung	lung
9	chr16:77235200-77246000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:77235600-77246000	Weak transcription	Liver	Liver
11	chr16:77235600-77246000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:77241600-77246000	Weak transcription	Left Ventricle	heart
13	chr16:77245400-77246000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr16:77245400-77246000	Weak transcription	Right Atrium	heart
15	chr16:77245400-77246000	Enhancers	Spleen	Spleen
16	chr16:77245400-77247200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr16:77245600-77246000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr16:77245600-77246000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr16:77245600-77246000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr16:77245600-77246000	Enhancers	Fetal Lung	lung
21	chr16:77245600-77246000	Enhancers	Placenta	Placenta
22	chr16:77245600-77246000	Enhancers	Gastric	stomach
23	chr16:77245600-77246000	Flanking Active TSS	A549	lung
24	chr16:77245600-77246200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr16:77245600-77246200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr16:77245600-77246200	Flanking Active TSS	Pancreas	Pancrea
27	chr16:77245600-77246200	Flanking Active TSS	HUVEC	blood vessel
28	chr16:77245600-77246400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:77245600-77246400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:77245600-77246400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr16:77245600-77246800	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr16:77245600-77247200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr16:77245600-77247200	Active TSS	Brain Germinal Matrix	brain
34	chr16:77245600-77247400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr16:77245600-77247400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:77245800-77246000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:77245800-77246000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr16:77245800-77246000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr16:77245800-77246000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:77245800-77246000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:77245800-77246000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr16:77245800-77246000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:77245800-77246000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:77245800-77246000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:77245800-77246000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr16:77245800-77246000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr16:77245800-77246000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr16:77245800-77246000	Flanking Active TSS	Fetal Kidney	kidney
49	chr16:77245800-77246000	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr16:77245800-77246000	Flanking Active TSS	Fetal Thymus	thymus

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