Variant report

Variant	rs192876588
Chromosome Location	chr19:52643772-52643773
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	CBX3	chr19:52642814-52643788	K562	blood:	n/a	n/a
2	MXI1	chr19:52641948-52643950	HepG2	liver:	n/a	chr19:52642119-52642128 chr19:52642121-52642130
3	RFX5	chr19:52643616-52643838	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:52641661-52643774	SK-N-MC	brain:	n/a	n/a
5	MXI1	chr19:52641433-52644116	IMR90	lung:	n/a	chr19:52642119-52642128 chr19:52642121-52642130
6	POLR2A	chr19:52642026-52643814	Raji	blood:	n/a	n/a
7	FOXA1	chr19:52643135-52643963	HepG2	liver:	n/a	n/a
8	FOXA2	chr19:52643582-52643905	HepG2	liver:	n/a	n/a
9	SMC3	chr19:52641641-52643783	SK-N-SH	brain:	n/a	chr19:52643228-52643238 chr19:52642740-52642750
10	MAX	chr19:52641944-52643907	HepG2	liver:	n/a	chr19:52642119-52642130 chr19:52642119-52642130 chr19:52642120-52642129 chr19:52642115-52642134 chr19:52642120-52642130 chr19:52642119-52642130 chr19:52642120-52642129 chr19:52642120-52642129 chr19:52642120-52642130
11	MAX	chr19:52641744-52643999	HepG2	liver:	n/a	chr19:52642119-52642130 chr19:52642119-52642130 chr19:52642120-52642129 chr19:52642115-52642134 chr19:52642120-52642130 chr19:52642119-52642130 chr19:52642120-52642129 chr19:52642120-52642129 chr19:52642120-52642130
12	ELF1	chr19:52643551-52643905	HepG2	liver:	n/a	chr19:52643721-52643734
13	JUND	chr19:52642503-52643795	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr19:52643485-52644005	HepG2	liver:	n/a	chr19:52643721-52643734
15	BHLHE40	chr19:52643642-52643931	HepG2	liver:	n/a	n/a
16	RAD21	chr19:52641740-52643927	SK-N-SH	brain:	n/a	chr19:52643228-52643238
17	ELF1	chr19:52643573-52643828	K562	blood:	n/a	chr19:52643721-52643734
18	MXI1	chr19:52641181-52643947	SK-N-SH	brain:	n/a	chr19:52642119-52642128 chr19:52642121-52642130

No.	Distal block	Cell Line	Cell type
1	chr19:52597551..52599096-chr19:52643130..52644965,2	K562	blood:
2	chr19:52636537..52639802-chr19:52640245..52644732,7	K562	blood:
3	chr19:52641479..52644491-chr19:52690575..52695402,7	MCF-7	breast:
4	chr19:52641278..52644856-chr19:52672246..52674908,4	MCF-7	breast:
5	chr19:52551561..52553801-chr19:52643165..52644706,2	K562	blood:
6	chr19:52530143..52532908-chr19:52641672..52644028,3	K562	blood:
7	chr19:52641710..52644473-chr19:52838292..52841252,2	MCF-7	breast:
8	chr19:52633223..52639825-chr19:52641959..52644424,7	MCF-7	breast:
9	chr19:52641405..52644253-chr19:52691691..52696539,6	MCF-7	breast:

Variant related genes	Relation type
ZNF616	TF binding region
ENSG00000268458	TF binding region
RPL37P23	TF binding region
ENSG00000196267	Chromatin interaction
ENSG00000197608	Chromatin interaction
ENSG00000167554	Chromatin interaction
ENSG00000238630	Chromatin interaction
ENSG00000267927	Chromatin interaction
ENSG00000105568	Chromatin interaction
ENSG00000256087	Chromatin interaction
ENSG00000142556	Chromatin interaction
ENSG00000267827	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS 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 miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv960860	chr19:52643619-52646538	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52641200-52643800	Active TSS	NH-A	brain
2	chr19:52641200-52644000	Active TSS	Muscle Satellite Cultured Cells	--
3	chr19:52641400-52643800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:52641400-52643800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:52641400-52643800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:52641400-52644000	Active TSS	HSMMtube	muscle
7	chr19:52641600-52643800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:52641600-52643800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:52641600-52643800	Active TSS	Colonic Mucosa	Colon
10	chr19:52641600-52643800	Active TSS	Fetal Intestine Small	intestine
11	chr19:52641600-52643800	Active TSS	Right Ventricle	heart
12	chr19:52641600-52644000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:52641600-52644000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr19:52641600-52644000	ZNF genes & repeats	A549	lung
15	chr19:52641600-52644200	Active TSS	Psoas Muscle	Psoas
16	chr19:52641800-52643800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:52641800-52643800	Active TSS	Ovary	ovary
18	chr19:52641800-52644200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr19:52642000-52644000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:52642200-52643800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:52642200-52643800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:52642200-52644000	Active TSS	Brain Cingulate Gyrus	brain
23	chr19:52642200-52644200	Active TSS	Stomach Smooth Muscle	stomach
24	chr19:52642400-52644000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:52642600-52643800	Active TSS	Pancreas	Pancrea
26	chr19:52642600-52643800	Active TSS	Thymus	Thymus
27	chr19:52642600-52644000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:52643000-52643800	Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:52643000-52644000	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr19:52643200-52643800	Active TSS	Right Atrium	heart
31	chr19:52643200-52644800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:52643200-52645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:52643400-52643800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:52643400-52643800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:52643400-52643800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr19:52643400-52643800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:52643400-52643800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr19:52643400-52643800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr19:52643400-52643800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:52643400-52643800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:52643400-52643800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr19:52643400-52643800	Flanking Active TSS	Fetal Heart	heart
43	chr19:52643400-52643800	Flanking Active TSS	Fetal Kidney	kidney
44	chr19:52643400-52643800	Flanking Active TSS	Fetal Lung	lung
45	chr19:52643400-52643800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr19:52643400-52643800	Enhancers	Gastric	stomach
47	chr19:52643400-52643800	Flanking Active TSS	K562	blood
48	chr19:52643400-52643800	Flanking Active TSS	NHEK	skin
49	chr19:52643400-52644000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr19:52643400-52644000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links