Variant report

Variant	rs56182098
Chromosome Location	chr19:53427791-53427792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:53427396-53427799	ECC-1	luminal epithelium:	n/a	chr19:53427419-53427427
2	POLR2A	chr19:53427446-53427844	K562	blood:	n/a	n/a
3	RCOR1	chr19:53427342-53427884	K562	blood:	n/a	n/a
4	SPI1	chr19:53427540-53427884	HL-60	blood:	n/a	n/a
5	EGR1	chr19:53427524-53427836	K562	blood:	n/a	n/a
6	ATF1	chr19:53427511-53427796	K562	blood:	n/a	n/a
7	POLR2A	chr19:53426110-53427803	K562	blood:	n/a	n/a
8	POLR2A	chr19:53427265-53427793	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:53427172-53427826	H1-hESC	embryonic stem cell:	n/a	n/a
10	UBTF	chr19:53427513-53427914	K562	blood:	n/a	n/a
11	SPI1	chr19:53427381-53427823	HL-60	blood:	n/a	n/a
12	CTCF	chr19:53427141-53427798	K562	blood:	n/a	n/a
13	REST	chr19:53427525-53427840	K562	blood:	n/a	n/a
14	TBL1XR1	chr19:53427517-53427937	K562	blood:	n/a	n/a
15	POLR2A	chr19:53425700-53427967	K562	blood:	n/a	n/a
16	JUND	chr19:53427419-53427895	K562	blood:	n/a	n/a
17	FOSL2	chr19:53427342-53427803	HepG2	liver:	n/a	n/a
18	HEY1	chr19:53427302-53427812	HepG2	liver:	n/a	n/a
19	EP300	chr19:53427526-53427872	K562	blood:	n/a	n/a
20	POLR2A	chr19:53427425-53427804	K562	blood:	n/a	n/a
21	CCNT2	chr19:53427516-53427800	K562	blood:	n/a	n/a
22	ELF1	chr19:53427527-53427809	K562	blood:	n/a	n/a
23	POLR2A	chr19:53427076-53427814	HL-60	blood:	n/a	n/a
24	MYC	chr19:53427533-53427801	K562	blood:	n/a	n/a
25	POLR2A	chr19:53427397-53427828	HL-60	blood:	n/a	n/a
26	MAX	chr19:53427514-53427810	K562	blood:	n/a	n/a
27	POLR2A	chr19:53427260-53427832	K562	blood:	n/a	n/a
28	POLR2A	chr19:53426124-53429666	K562	blood:	n/a	n/a
29	CBX3	chr19:53427433-53427925	K562	blood:	n/a	n/a
30	IRF1	chr19:53427729-53427868	K562	blood:	n/a	n/a
31	E2F6	chr19:53427514-53427798	K562	blood:	n/a	n/a
32	JUND	chr19:53427601-53427814	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF384	chr19:53427533-53427977	K562	blood:	n/a	n/a
34	EGR1	chr19:53427534-53427842	K562	blood:	n/a	n/a
35	MAX	chr19:53427409-53427816	K562	blood:	n/a	n/a
36	ZBTB7A	chr19:53427594-53427791	K562	blood:	n/a	n/a
37	TEAD4	chr19:53427272-53427910	K562	blood:	n/a	n/a
38	GABPA	chr19:53427516-53427827	K562	blood:	n/a	n/a
39	MAX	chr19:53427452-53427813	NB4	blood:	n/a	n/a
40	UBTF	chr19:53427513-53427795	K562	blood:	n/a	n/a
41	POLR2A	chr19:53427741-53427870	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr19:53427706-53428272	MCF10A-Er-Src	breast:	n/a	n/a
43	JUN	chr19:53426087-53428013	K562	blood:	n/a	chr19:53426810-53426819 chr19:53426463-53426472 chr19:53426616-53426624
44	MAZ	chr19:53427467-53427873	K562	blood:	n/a	n/a
45	ELF1	chr19:53427498-53427834	K562	blood:	n/a	n/a
46	E2F6	chr19:53427616-53427795	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:53426133..53428140-chr19:53445241..53446971,2	K562	blood:
2	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
3	chr19:53425636..53428538-chr19:53430721..53433929,3	K562	blood:
4	chr19:53426133..53428640-chr19:53444456..53447019,4	K562	blood:
5	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
6	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:

No data

Variant related genes	Relation type
ZNF888	TF binding region
ENSG00000213793	Chromatin interaction
ENSG00000182986	Chromatin interaction
ENSG00000180257	Chromatin interaction
ENSG00000213801	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11666503	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11667788	0.91[ASN][1000 genomes]
rs12609561	0.85[ASN][1000 genomes]
rs12972851	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978620	0.83[ASN][1000 genomes]
rs4334054	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv912318	chr19:53118278-53451291	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv432072	chr19:53144788-53554388	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv3401212	chr19:53151131-53482063	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv912321	chr19:53186836-53451291	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv1058903	chr19:53193570-53489633	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1067280	chr19:53193570-53567287	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv544062	chr19:53193570-53567287	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv580030	chr19:53194344-53547394	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	nsv1057118	chr19:53195426-53480449	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv912323	chr19:53249347-53451291	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	esv3431689	chr19:53291230-53483998	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
20	nsv912329	chr19:53317001-53440653	Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
21	nsv912330	chr19:53317001-53478109	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
22	nsv1064234	chr19:53346827-53480449	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
23	esv3319159	chr19:53361167-53446431	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
24	esv3319160	chr19:53361308-53446343	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv912340	chr19:53370345-53430362	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
26	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
27	nsv963071	chr19:53401720-53480869	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
29	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
30	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
31	nsv522421	chr19:53413825-53433054	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53425600-53427800	Active TSS	Rectal Smooth Muscle	rectum
2	chr19:53425800-53427800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:53425800-53427800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr19:53426600-53427800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:53426600-53444800	Weak transcription	Fetal Heart	heart
6	chr19:53426800-53427800	Enhancers	Fetal Brain Male	brain
7	chr19:53426800-53427800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:53426800-53428200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:53426800-53431600	Weak transcription	HSMMtube	muscle
10	chr19:53426800-53432400	Weak transcription	Gastric	stomach
11	chr19:53426800-53434200	Weak transcription	NH-A	brain
12	chr19:53426800-53435600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:53426800-53444800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:53426800-53445000	Weak transcription	Small Intestine	intestine
15	chr19:53426800-53445200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:53426800-53445200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:53427000-53427800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:53427000-53427800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:53427000-53427800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:53427000-53427800	Enhancers	Spleen	Spleen
21	chr19:53427000-53427800	Enhancers	HUVEC	blood vessel
22	chr19:53427000-53427800	Flanking Active TSS	K562	blood
23	chr19:53427000-53428000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:53427000-53428200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:53427000-53428200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:53427000-53431200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:53427000-53431200	Weak transcription	Pancreas	Pancrea
28	chr19:53427000-53431800	Weak transcription	Esophagus	oesophagus
29	chr19:53427000-53431800	Weak transcription	HSMM	muscle
30	chr19:53427000-53432000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr19:53427000-53433400	Weak transcription	Lung	lung
32	chr19:53427000-53440200	Weak transcription	Aorta	Aorta
33	chr19:53427000-53442600	Weak transcription	Ovary	ovary
34	chr19:53427000-53444800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:53427200-53427800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:53427200-53427800	Enhancers	Primary B cells from cord blood	blood
37	chr19:53427200-53427800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr19:53427200-53427800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr19:53427200-53427800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:53427200-53427800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr19:53427200-53427800	Enhancers	Fetal Intestine Large	intestine
42	chr19:53427200-53427800	Enhancers	Fetal Muscle Leg	muscle
43	chr19:53427200-53427800	Enhancers	Right Ventricle	heart
44	chr19:53427200-53428000	Enhancers	Primary hematopoietic stem cells	blood
45	chr19:53427200-53428000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr19:53427200-53428200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr19:53427200-53428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:53427200-53428200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr19:53427200-53428400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:53427200-53428400	Enhancers	NHEK	skin

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