Variant report

Variant	rs372871689
Chromosome Location	chr19:18544072-18544073
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	YY1	chr19:18543495-18544431	GM12878	blood:	n/a	chr19:18544283-18544294 chr19:18544285-18544294
2	POLR2A	chr19:18543524-18545258	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:18543104-18544416	GM12878	blood:	n/a	n/a
4	BCL3	chr19:18543616-18544387	K562	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
5	E2F6	chr19:18543895-18544171	K562	blood:	n/a	chr19:18544038-18544049 chr19:18544039-18544051
6	POLR2A	chr19:18543831-18544414	GM10847	blood:	n/a	n/a
7	MAX	chr19:18543515-18545245	K562	blood:	n/a	chr19:18544474-18544484 chr19:18545007-18545017
8	TAF1	chr19:18543783-18544359	K562	blood:	n/a	n/a
9	POLR2A	chr19:18543590-18544386	GM12891	blood:	n/a	n/a
10	POU2F2	chr19:18543546-18544287	GM12878	blood:	n/a	n/a
11	EGR1	chr19:18543813-18544359	GM12878	blood:	n/a	chr19:18544024-18544035 chr19:18544300-18544310 chr19:18544044-18544053 chr19:18544043-18544056 chr19:18544025-18544035 chr19:18544040-18544054 chr19:18544283-18544296 chr19:18544044-18544054
12	POLR2A	chr19:18538551-18551124	K562	blood:	n/a	n/a
13	CTCF	chr19:18544040-18544190	GM12874	blood:	n/a	chr19:18544140-18544153
14	BCLAF1	chr19:18543587-18544362	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
15	CTCF	chr19:18544000-18544150	SK-N-SH_RA	brain:	n/a	n/a
16	MYC	chr19:18543825-18544224	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr19:18543909-18544440	PANC-1	pancreas:	n/a	n/a
18	STAT1	chr19:18543864-18544255	GM12878	blood:	n/a	n/a
19	TAF1	chr19:18543752-18544314	GM12878	blood:	n/a	n/a
20	CTCF	chr19:18543962-18544229	Spleen_OC	spleen:	n/a	chr19:18544140-18544153
21	POLR2A	chr19:18543837-18544433	H1-hESC	embryonic stem cell:	n/a	n/a
22	ELF1	chr19:18543656-18544411	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:18543470-18548238	PANC-1	pancreas:	n/a	n/a
24	MXI1	chr19:18543789-18544251	GM12878	blood:	n/a	n/a
25	MYC	chr19:18543811-18544278	K562	blood:	n/a	n/a
26	RAD21	chr19:18544015-18544230	K562	blood:	n/a	chr19:18544166-18544179 chr19:18544122-18544129 chr19:18544169-18544183
27	TCF3	chr19:18543672-18544433	GM12878	blood:	n/a	n/a
28	HEY1	chr19:18543533-18544433	K562	blood:	n/a	chr19:18544291-18544306 chr19:18544272-18544287 chr19:18544281-18544296 chr19:18544138-18544153
29	MAX	chr19:18543799-18544393	K562	blood:	n/a	n/a
30	CHD2	chr19:18543582-18545221	K562	blood:	n/a	chr19:18544477-18544487 chr19:18544220-18544230 chr19:18544038-18544048 chr19:18544482-18544492
31	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
32	YY1	chr19:18543668-18544465	GM12878	blood:	n/a	chr19:18544283-18544294 chr19:18544285-18544294
33	CTCF	chr19:18543992-18544167	GM19238	blood:	n/a	chr19:18544140-18544153
34	BCL3	chr19:18543538-18544439	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
35	E2F6	chr19:18543872-18544290	H1-hESC	embryonic stem cell:	n/a	chr19:18544038-18544049 chr19:18544039-18544051
36	CTCFL	chr19:18543996-18544112	K562	blood:	n/a	n/a
37	POLR2A	chr19:18543955-18544079	A549	lung:	n/a	n/a
38	CTCF	chr19:18544020-18544170	BE2_C	brain:	n/a	chr19:18544140-18544153
39	BHLHE40	chr19:18543877-18544227	K562	blood:	n/a	chr19:18544163-18544179
40	POLR2A	chr19:18543821-18544434	U87	brain:	n/a	n/a
41	FOXM1	chr19:18543887-18544425	GM12878	blood:	n/a	n/a
42	TAF1	chr19:18543838-18544134	GM12891	blood:	n/a	n/a
43	POLR2A	chr19:18543447-18547067	K562	blood:	n/a	n/a
44	POLR2A	chr19:18543826-18546149	K562	blood:	n/a	n/a
45	NFIC	chr19:18543743-18544388	GM12878	blood:	n/a	chr19:18544343-18544371
46	POLR2A	chr19:18543681-18544314	HepG2	liver:	n/a	n/a
47	STAT5A	chr19:18542897-18544436	GM12878	blood:	n/a	n/a
48	YY1	chr19:18543806-18544244	K562	blood:	n/a	n/a
49	ATF2	chr19:18543709-18544259	GM12878	blood:	n/a	n/a
50	YY1	chr19:18543742-18544177	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
2	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
3	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
4	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
5	chr19:18392120..18393655-chr19:18544047..18545817,2	K562	blood:
6	chr18:12067124..12068644-chr19:18543710..18545856,2	K562	blood:
7	chr19:18385251..18388025-chr19:18541664..18544540,2	K562	blood:
8	chr19:18484864..18486946-chr19:18543605..18545790,2	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000267959	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000267533	Chromatin interaction
ENSG00000130511	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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 miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS 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 miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
11	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	nsv911279	chr19:18533642-18550276	Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
15	esv3429815	chr19:18543377-18545925	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18532800-18547600	Weak transcription	HepG2	liver
2	chr19:18538000-18547600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:18538000-18548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:18540800-18545400	Weak transcription	A549	lung
5	chr19:18541000-18547800	Weak transcription	HSMMtube	muscle
6	chr19:18541200-18544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:18541600-18546800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr19:18541600-18548000	Weak transcription	Stomach Mucosa	stomach
9	chr19:18541800-18545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:18542600-18548000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:18542800-18544400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:18542800-18545800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:18543000-18544200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr19:18543200-18544200	Flanking Active TSS	K562	blood
15	chr19:18543200-18544400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:18543200-18545400	Enhancers	Spleen	Spleen
17	chr19:18543400-18544200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr19:18543400-18546200	Enhancers	Fetal Brain Male	brain
19	chr19:18543600-18544200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:18543600-18544200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:18543600-18544200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr19:18543600-18544200	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr19:18543600-18544200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr19:18543600-18544200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:18543600-18544200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr19:18543600-18544200	Active TSS	Fetal Kidney	kidney
27	chr19:18543600-18544200	Flanking Active TSS	NH-A	brain
28	chr19:18543600-18544400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:18543600-18544400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:18543600-18544400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:18543600-18544400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr19:18543600-18544400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr19:18543600-18544400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:18543600-18544400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:18543600-18544400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:18543600-18544400	Enhancers	Adipose Nuclei	Adipose
37	chr19:18543600-18544400	Enhancers	Liver	Liver
38	chr19:18543600-18544400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chr19:18543600-18544400	Flanking Active TSS	Ovary	ovary
40	chr19:18543600-18544400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr19:18543600-18545200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr19:18543600-18545200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr19:18543600-18545400	Active TSS	Fetal Brain Female	brain
44	chr19:18543800-18544200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr19:18543800-18544200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:18543800-18544200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr19:18543800-18544200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:18543800-18544200	Enhancers	Fetal Lung	lung
49	chr19:18543800-18544200	Flanking Active TSS	Fetal Stomach	stomach
50	chr19:18543800-18544200	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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