Variant report

Variant	rs35816100
Chromosome Location	chr19:51152949-51152950
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	SIX5	chr19:51152682-51153202	A549	lung:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
2	SP1	chr19:51152418-51153203	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr19:51152782-51153142	K562	blood:	n/a	n/a
4	SIX5	chr19:51152803-51153220	GM12878	blood:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
5	ZNF143	chr19:51152501-51153354	H1-hESC	embryonic stem cell:	n/a	chr19:51152941-51152959 chr19:51152996-51153005 chr19:51152945-51152964 chr19:51152943-51152952 chr19:51152941-51152950 chr19:51152994-51153003 chr19:51153177-51153196 chr19:51152994-51153012
6	YY1	chr19:51152859-51153150	GM12878	blood:	n/a	chr19:51153123-51153139
7	SIX5	chr19:51152712-51153154	K562	blood:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
8	CEBPB	chr19:51152812-51153187	K562	blood:	n/a	n/a
9	SIX5	chr19:51152537-51153391	A549	lung:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
10	CHD2	chr19:51152882-51153344	K562	blood:	n/a	n/a
11	NFYA	chr19:51152730-51153146	K562	blood:	n/a	n/a
12	SPI1	chr19:51152876-51153047	K562	blood:	n/a	n/a
13	MYC	chr19:51152576-51153457	K562	blood:	n/a	n/a
14	YY1	chr19:51152876-51153070	GM12892	blood:	n/a	n/a
15	YY1	chr19:51152835-51153160	K562	blood:	n/a	chr19:51153123-51153139
16	YY1	chr19:51152860-51153119	SK-N-SH_RA	brain:	n/a	n/a
17	NR2F2	chr19:51152856-51153760	K562	blood:	n/a	n/a
18	IRF1	chr19:51152810-51153120	K562	blood:	n/a	chr19:51152871-51152882 chr19:51152870-51152887 chr19:51152870-51152882 chr19:51152869-51152882
19	TEAD4	chr19:51152678-51153123	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIX5	chr19:51152744-51153209	H1-hESC	embryonic stem cell:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
21	TEAD4	chr19:51152724-51153143	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr19:51152796-51153134	A549	lung:	n/a	n/a
23	HCFC1	chr19:51152639-51153595	Hela-S3	cervix:	n/a	n/a
24	TAF1	chr19:51152640-51153212	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFYB	chr19:51152800-51153139	K562	blood:	n/a	n/a
26	ELF1	chr19:51152635-51153245	MCF-7	breast:	n/a	n/a
27	JUND	chr19:51152878-51153574	K562	blood:	n/a	n/a
28	YY1	chr19:51152788-51153106	HCT-116	colon:	n/a	n/a
29	YY1	chr19:51152775-51153212	SK-N-SH_RA	brain:	n/a	chr19:51153123-51153139
30	ETS1	chr19:51152830-51153151	K562	blood:	n/a	chr19:51152940-51152953 chr19:51152992-51153005 chr19:51152993-51153006
31	SIX5	chr19:51152792-51153165	K562	blood:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
32	MAZ	chr19:51152647-51153450	K562	blood:	n/a	n/a
33	ETS1	chr19:51152823-51153110	GM12878	blood:	n/a	chr19:51152940-51152953 chr19:51152992-51153005 chr19:51152993-51153006
34	ETS1	chr19:51152657-51153191	A549	lung:	n/a	chr19:51152940-51152953 chr19:51152992-51153005 chr19:51152801-51152808 chr19:51152993-51153006
35	ETS1	chr19:51152687-51153217	K562	blood:	n/a	chr19:51152940-51152953 chr19:51152992-51153005 chr19:51152801-51152808 chr19:51152993-51153006
36	RCOR1	chr19:51152863-51153213	K562	blood:	n/a	n/a
37	YY1	chr19:51152762-51153185	H1-hESC	embryonic stem cell:	n/a	chr19:51153123-51153139
38	TBP	chr19:51152762-51153352	K562	blood:	n/a	n/a
39	ZNF143	chr19:51152763-51153234	GM12878	blood:	n/a	chr19:51152941-51152959 chr19:51152996-51153005 chr19:51152945-51152964 chr19:51152943-51152952 chr19:51152941-51152950 chr19:51152994-51153003 chr19:51153177-51153196 chr19:51152994-51153012
40	GABPA	chr19:51152614-51153059	K562	blood:	n/a	n/a
41	YY1	chr19:51152858-51153167	K562	blood:	n/a	chr19:51153123-51153139
42	ZNF384	chr19:51152852-51153078	K562	blood:	n/a	n/a
43	ZNF143	chr19:51152644-51153547	K562	blood:	n/a	chr19:51152941-51152959 chr19:51152996-51153005 chr19:51152945-51152964 chr19:51152943-51152952 chr19:51152941-51152950 chr19:51152994-51153003 chr19:51153177-51153196 chr19:51152994-51153012
44	SIX5	chr19:51152821-51153180	K562	blood:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
45	SIX5	chr19:51152686-51153144	K562	blood:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
46	SP4	chr19:51152756-51153155	H1-hESC	embryonic stem cell:	n/a	n/a
47	SIX5	chr19:51152628-51153242	H1-hESC	embryonic stem cell:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
48	POLR2A	chr19:51152806-51153237	H1-neurons	neurons:	n/a	n/a
49	SIX5	chr19:51152814-51153154	GM12878	blood:	n/a	chr19:51152992-51153006 chr19:51152994-51153003 chr19:51152943-51152952 chr19:51152939-51152953 chr19:51152996-51153005 chr19:51152941-51152950
50	ELF1	chr19:51152813-51153160	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51140689..51143199-chr19:51151505..51153507,2	K562	blood:
2	chr19:51149593..51155086-chr19:51158958..51163524,10	MCF-7	breast:
3	chr19:51149465..51153757-chr19:51159480..51162538,5	MCF-7	breast:

Variant related genes	Relation type
C19orf81	TF binding region
ENSG00000235034	Chromatin interaction
ENSG00000213023	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10404260	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10414770	0.80[EUR][1000 genomes]
rs10416270	0.82[EUR][1000 genomes]
rs12981603	0.87[ASN][1000 genomes]
rs17849195	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34117989	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59497815	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs889135	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1062281	chr19:51053340-51230844	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1062548	chr19:51081358-51230844	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv828583	chr19:51140752-51249837	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv912285	chr19:51141486-51236834	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv579950	chr19:51148772-51193443	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51152000-51153400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:51152000-51153400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:51152200-51156600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:51152400-51153000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:51152400-51153200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:51152600-51153000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:51152600-51153000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
8	chr19:51152600-51153000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:51152600-51153000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:51152600-51153000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr19:51152600-51153000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:51152600-51153200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:51152800-51153200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:51152800-51153400	Flanking Active TSS	K562	blood
15	chr19:51152800-51156600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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