Variant report

Variant	rs2238651
Chromosome Location	chr19:18718846-18718847
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	chr19:18718757-18718893	HepG2	liver:	n/a	n/a
2	ZBTB7A	chr19:18717719-18718850	ECC-1	luminal epithelium:	n/a	n/a
3	SUZ12	chr19:18717865-18720029	NT2-D1	testis:	n/a	n/a
4	ZNF263	chr19:18718257-18718875	HEK293-T-REx	kidney:	n/a	chr19:18718714-18718723 chr19:18718709-18718730

No.	Distal block	Cell Line	Cell type
1	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
2	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
3	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
4	chr19:18717975..18720331-chr19:18725618..18727812,2	K562	blood:
5	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:

Variant related genes	Relation type
TMEM59L	TF binding region
CRLF1	TF binding region
ENSG00000105696	Chromatin interaction
ENSG00000167487	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11086118	0.93[ASN][1000 genomes]
rs12976398	0.91[ASN][1000 genomes]
rs17683569	0.93[ASN][1000 genomes]
rs2238648	0.93[ASN][1000 genomes]
rs2238649	0.93[ASN][1000 genomes]
rs35521276	0.93[ASN][1000 genomes]
rs35614934	0.93[ASN][1000 genomes]
rs35913516	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61298336	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62137129	0.93[ASN][1000 genomes]
rs71332131	0.91[ASN][1000 genomes]
rs7248611	0.93[ASN][1000 genomes]
rs72995446	0.95[ASN][1000 genomes]
rs73531625	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8101144	0.89[ASN][1000 genomes]
rs8107912	0.93[ASN][1000 genomes]
rs8108207	0.88[ASN][1000 genomes]

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	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
2	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
3	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
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911287	chr19:18699333-18727913	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv911288	chr19:18700047-18739497	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911290	chr19:18701499-18720981	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv911291	chr19:18701499-18726856	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv911292	chr19:18701499-18731658	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	esv3361838	chr19:18716652-18719275	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv1820133	chr19:18717017-18719009	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:18715400-18719000	Active TSS	HSMM	muscle
3	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:18716600-18719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr19:18716800-18719000	Enhancers	Pancreas	Pancrea
6	chr19:18717600-18719000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:18717600-18719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr19:18717600-18719600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr19:18717800-18719000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:18717800-18719000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:18717800-18719000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr19:18717800-18719200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr19:18717800-18719200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr19:18718000-18719000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:18718000-18719000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr19:18718000-18719000	Bivalent Enhancer	Placenta	Placenta
17	chr19:18718000-18719000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr19:18718000-18719400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:18718000-18719400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:18718200-18719000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr19:18718200-18719000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
22	chr19:18718200-18719000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr19:18718200-18719000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:18718200-18719000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:18718200-18719200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:18718200-18719200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:18718200-18719200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
28	chr19:18718200-18719200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
29	chr19:18718400-18719000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:18718400-18719000	Bivalent Enhancer	Colon Smooth Muscle	Colon
31	chr19:18718400-18719000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr19:18718400-18719400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr19:18718400-18719400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr19:18718400-18719400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr19:18718400-18721200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr19:18718400-18721400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr19:18718600-18719000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:18718600-18719000	Bivalent Enhancer	Brain Anterior Caudate	brain
39	chr19:18718600-18719000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
40	chr19:18718600-18719000	Flanking Active TSS	Hela-S3	cervix
41	chr19:18718600-18719000	Bivalent Enhancer	HMEC	breast
42	chr19:18718600-18719200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr19:18718600-18719200	Bivalent Enhancer	NHEK	skin
44	chr19:18718800-18719000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
45	chr19:18718800-18719000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:18718800-18719000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:18718800-18719000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:18718800-18719000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:18718800-18719000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:18718800-18719000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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