Variant report

Variant	rs73931468
Chromosome Location	chr19:41884155-41884156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr19:41883975-41884540	H1-hESC	embryonic stem cell:	n/a	n/a
2	PML	chr19:41884111-41884697	GM12878	blood:	n/a	n/a
3	ELF1	chr19:41884146-41884650	GM12878	blood:	n/a	n/a
4	RELA	chr19:41884087-41884723	GM19099	blood:	n/a	n/a
5	EBF1	chr19:41884088-41884567	GM12878	blood:	n/a	n/a
6	CTCF	chr19:41884114-41884571	K562	blood:	n/a	n/a
7	CTCF	chr19:41884084-41884639	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFIC	chr19:41883897-41884472	GM12878	blood:	n/a	n/a
9	CTCF	chr19:41884060-41884606	K562	blood:	n/a	n/a
10	CTCF	chr19:41884145-41884576	K562	blood:	n/a	n/a
11	CTCF	chr19:41884144-41884596	HepG2	liver:	n/a	n/a
12	MTA3	chr19:41883958-41884808	GM12878	blood:	n/a	n/a
13	STAT5A	chr19:41884037-41884741	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41883523..41885589-chr19:41888415..41890497,2	K562	blood:
2	chr19:41882074..41885616-chr19:41888544..41893640,5	K562	blood:

No data

Variant related genes	Relation type
TMEM91	TF binding region
BCKDHA	TF binding region
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11466321	1.00[ASN][1000 genomes]
rs12327735	1.00[ASN][1000 genomes]
rs12327737	1.00[ASN][1000 genomes]
rs12327776	1.00[ASN][1000 genomes]
rs1800471	1.00[ASN][1000 genomes]
rs2231936	1.00[ASN][1000 genomes]
rs36035938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55826925	1.00[ASN][1000 genomes]
rs56058717	1.00[ASN][1000 genomes]
rs58479032	1.00[ASN][1000 genomes]
rs58921598	1.00[ASN][1000 genomes]
rs59204307	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59233264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59777247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047219	1.00[ASN][1000 genomes]
rs73931466	1.00[ASN][1000 genomes]
rs73931470	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931471	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931473	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73931477	1.00[ASN][1000 genomes]
rs73931479	1.00[ASN][1000 genomes]
rs73931480	1.00[ASN][1000 genomes]
rs73931482	1.00[ASN][1000 genomes]
rs73931483	1.00[ASN][1000 genomes]
rs8102338	1.00[ASN][1000 genomes]
rs8102501	1.00[ASN][1000 genomes]
rs8106870	1.00[ASN][1000 genomes]
rs8106934	1.00[ASN][1000 genomes]
rs8106999	1.00[ASN][1000 genomes]
rs8108664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973242	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv996035	chr19:41881445-41887549	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41871200-41888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41871400-41888400	Weak transcription	Dnd41	blood
3	chr19:41880400-41894000	Weak transcription	HSMMtube	muscle
4	chr19:41882600-41884400	Enhancers	GM12878-XiMat	blood
5	chr19:41882800-41884800	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:41882800-41884800	Enhancers	Fetal Thymus	thymus
7	chr19:41882800-41886400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr19:41882800-41895400	Weak transcription	Psoas Muscle	Psoas
9	chr19:41882800-41895600	Weak transcription	HSMM	muscle
10	chr19:41883000-41884200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:41883000-41884200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:41883000-41884600	Enhancers	Lung	lung
13	chr19:41883000-41885200	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:41883000-41885400	Weak transcription	NHDF-Ad	bronchial
15	chr19:41883000-41886000	Weak transcription	NH-A	brain
16	chr19:41883000-41887600	Weak transcription	Fetal Intestine Small	intestine
17	chr19:41883000-41888000	Weak transcription	A549	lung
18	chr19:41883000-41888400	Weak transcription	Primary T cells from cord blood	blood
19	chr19:41883000-41890400	Weak transcription	Fetal Lung	lung
20	chr19:41883000-41891200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:41883000-41891800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:41883000-41892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:41883000-41895400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:41883000-41895600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:41883000-41895600	Weak transcription	Aorta	Aorta
26	chr19:41883000-41896000	Weak transcription	Small Intestine	intestine
27	chr19:41883000-41896000	Weak transcription	HUVEC	blood vessel
28	chr19:41883000-41902800	Weak transcription	Stomach Mucosa	stomach
29	chr19:41883200-41884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:41883200-41884200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:41883200-41884200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:41883200-41884200	Weak transcription	Thymus	Thymus
33	chr19:41883200-41884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:41883200-41884600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:41883200-41884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:41883200-41884800	Enhancers	HepG2	liver
37	chr19:41883200-41885200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:41883200-41885400	Weak transcription	NHEK	skin
39	chr19:41883200-41885600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:41883200-41886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:41883200-41886000	Weak transcription	Fetal Heart	heart
42	chr19:41883200-41888000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:41883200-41888000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:41883200-41888400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:41883200-41888400	Weak transcription	Left Ventricle	heart
46	chr19:41883200-41888600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:41883200-41888600	Weak transcription	Brain Angular Gyrus	brain
48	chr19:41883200-41888600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:41883200-41888600	Weak transcription	Fetal Intestine Large	intestine
50	chr19:41883200-41888600	Weak transcription	Ovary	ovary

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