Variant report

Variant	rs183645828
Chromosome Location	chr19:21665802-21665803
allele	C/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	CTCF	chr19:21665560-21665910	K562	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
2	CTCF	chr19:21665681-21665862	GM19240	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
3	RAD21	chr19:21665533-21666181	H1-hESC	embryonic stem cell:	n/a	chr19:21666133-21666143 chr19:21665751-21665770
4	CTCF	chr19:21665700-21665850	NHEK	skin:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
5	CTCF	chr19:21665660-21665810	HBMEC	blood vessel:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
6	CTCF	chr19:21665722-21665857	A549	lung:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
7	CTCF	chr19:21665634-21665901	Kidney_OC	kidney:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
8	CTCF	chr19:21665660-21665810	HCT-116	colon:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
9	BRCA1	chr19:21665696-21666181	HepG2	liver:	n/a	n/a
10	JUND	chr19:21665695-21666179	K562	blood:	n/a	chr19:21665987-21665998
11	CTCF	chr19:21665698-21665853	GM13977	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
12	CTCF	chr19:21665680-21665830	HRPEpiC	eye:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
13	CTCFL	chr19:21665693-21665869	K562	blood:	n/a	n/a
14	RAD21	chr19:21665491-21665971	ECC-1	luminal epithelium:	n/a	chr19:21665751-21665770
15	RAD21	chr19:21665560-21665988	HCT-116	colon:	n/a	chr19:21665751-21665770
16	CTCF	chr19:21665720-21665870	GM12866	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
17	CTCF	chr19:21665692-21665870	GM12878	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
18	MAZ	chr19:21665695-21666181	GM12878	blood:	n/a	n/a
19	CTCF	chr19:21665695-21665871	Gliobla	brain:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
20	CTCF	chr19:21665628-21665907	LNCaP	prostate:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
21	CTCF	chr19:21665700-21665850	NHDF-neo	bronchial:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
22	CTCF	chr19:21665700-21665850	HEK293	kidney:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
23	TBP	chr19:21665694-21666182	K562	blood:	n/a	n/a
24	CTCF	chr19:21665711-21665848	GM10266	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
25	EGR1	chr19:21665577-21665908	K562	blood:	n/a	chr19:21665734-21665749 chr19:21665735-21665748 chr19:21665735-21665748 chr19:21665735-21665749 chr19:21665737-21665747 chr19:21665738-21665747 chr19:21665735-21665748 chr19:21665736-21665747 chr19:21665737-21665746 chr19:21665736-21665747 chr19:21665737-21665747 chr19:21665731-21665753
26	CTCF	chr19:21665670-21665847	HUVEC	blood vessel:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
27	CTCF	chr19:21665660-21665810	NHEK	skin:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
28	ZNF143	chr19:21665629-21666181	K562	blood:	n/a	n/a
29	EGR1	chr19:21665538-21665974	H1-hESC	embryonic stem cell:	n/a	chr19:21665734-21665749 chr19:21665735-21665748 chr19:21665735-21665748 chr19:21665735-21665749 chr19:21665737-21665747 chr19:21665738-21665747 chr19:21665735-21665748 chr19:21665736-21665747 chr19:21665737-21665746 chr19:21665736-21665747 chr19:21665737-21665747 chr19:21665731-21665753
30	ELK1	chr19:21665666-21666180	K562	blood:	n/a	n/a
31	CTCF	chr19:21665680-21665830	HEEpiC	esophagus:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
32	CTCF	chr19:21665661-21665889	GM20000	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
33	TBP	chr19:21665695-21666182	HepG2	liver:	n/a	n/a
34	CTCF	chr19:21665700-21665850	A549	lung:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
35	BRCA1	chr19:21665696-21666178	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr19:21665554-21665955	HCT-116	colon:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
37	CTCF	chr19:21665720-21665870	HCPEpiC	choroid plexus:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
38	CTCF	chr19:21665740-21665890	HepG2	liver:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
39	CTCF	chr19:21665660-21665810	A549	lung:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
40	SMC3	chr19:21665623-21666178	Hela-S3	cervix:	n/a	chr19:21665755-21665769
41	CTCF	chr19:21665680-21665830	GM12865	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
42	RAD21	chr19:21665631-21665864	K562	blood:	n/a	chr19:21665751-21665770
43	CTCF	chr19:21665700-21665850	SAEC	small airway:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
44	CTCF	chr19:21665736-21665822	GM19239	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
45	EBF1	chr19:21665697-21666178	GM12878	blood:	n/a	n/a
46	CTCF	chr19:21665700-21665850	AG09319	gingival:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
47	SMC3	chr19:21665561-21666135	SK-N-SH	brain:	n/a	chr19:21665755-21665769
48	CHD2	chr19:21665694-21666178	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr19:21665543-21666179	HepG2	liver:	n/a	chr19:21666133-21666143 chr19:21665751-21665770
50	CTCF	chr19:21665660-21665810	BE2_C	brain:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768

No.	Distal block	Cell Line	Cell type
1	chr19:21665377..21666059-chr20:61799030..61799530,2	MCF-7	breast:
2	chr19:21664396..21666008-chr21:9825779..9827966,2	MCF-7	breast:
3	chr19:21665376..21665988-chr8:46940890..46941394,3	MCF-7	breast:
4	chr19:21665377..21666008-chr8:46940755..46941391,3	MCF-7	breast:

Variant related genes	Relation type
LINC00664	TF binding region
ENSG00000264462	Chromatin interaction
ENSG00000264063	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription 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 target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv510759	chr19:21664791-21723191	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21658200-21667400	Weak transcription	Right Atrium	heart
2	chr19:21658200-21687800	Weak transcription	Brain Substantia Nigra	brain
3	chr19:21659200-21666000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:21659200-21668400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:21665400-21666400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:21665600-21666000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:21665600-21666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:21665600-21666000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:21665600-21666000	Enhancers	Stomach Mucosa	stomach
10	chr19:21665600-21666200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr19:21665600-21666400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:21665600-21666400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr19:21665600-21666800	Active TSS	Osteobl	bone
14	chr19:21665600-21667000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr19:21665800-21666000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:21665800-21666000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:21665800-21666000	ZNF genes & repeats	Esophagus	oesophagus
18	chr19:21665800-21666000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:21665800-21666200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr19:21665800-21666200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr19:21665800-21666200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr19:21665800-21666200	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:21665800-21666200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:21665800-21666200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr19:21665800-21666200	ZNF genes & repeats	Colonic Mucosa	Colon
26	chr19:21665800-21666200	ZNF genes & repeats	Gastric	stomach
27	chr19:21665800-21666200	Enhancers	Left Ventricle	heart
28	chr19:21665800-21666200	Active TSS	Psoas Muscle	Psoas
29	chr19:21665800-21666200	Active TSS	Right Ventricle	heart
30	chr19:21665800-21666200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr19:21665800-21666200	ZNF genes & repeats	Spleen	Spleen
32	chr19:21665800-21666400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:21665800-21666400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr19:21665800-21666400	Active TSS	Colon Smooth Muscle	Colon
35	chr19:21665800-21666400	Active TSS	Rectal Smooth Muscle	rectum
36	chr19:21665800-21666600	ZNF genes & repeats	Thymus	Thymus
37	chr19:21665800-21666800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:21665800-21666800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr19:21665800-21666800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:21665800-21666800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr19:21665800-21666800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr19:21665800-21666800	Flanking Active TSS	Placenta	Placenta
43	chr19:21665800-21666800	ZNF genes & repeats	Lung	lung
44	chr19:21665800-21666800	Active TSS	Ovary	ovary
45	chr19:21665800-21667000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:21665800-21667000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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