Variant report

Variant	rs73935333
Chromosome Location	chr19:55742558-55742559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55742393-55742619	K562	blood:	n/a	n/a
2	POLR2A	chr19:55742092-55742632	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:55736540-55744341	HL-60	blood:	n/a	n/a
4	POLR2A	chr19:55742199-55742702	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:55742089-55743191	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:55742228-55742627	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55741448..55743072-chr19:55751746..55753955,2	K562	blood:
2	chr19:55737210..55740229-chr19:55741126..55744249,3	MCF-7	breast:
3	chr19:55741858..55744474-chr19:55769196..55771554,2	K562	blood:
4	chr19:55727214..55729543-chr19:55742067..55744126,2	MCF-7	breast:
5	chr19:55739984..55744473-chr19:55744557..55749568,5	MCF-7	breast:
6	chr19:55726329..55730291-chr19:55739732..55743145,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266462	TF binding region
TMEM86B	TF binding region
ENSG00000266462	Chromatin interaction
ENSG00000269808	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000180089	Chromatin interaction
ENSG00000105063	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10426959	1.00[EUR][1000 genomes]
rs57232155	1.00[EUR][1000 genomes]
rs7249465	1.00[EUR][1000 genomes]
rs73605177	1.00[EUR][1000 genomes]
rs73605189	1.00[EUR][1000 genomes]
rs73605193	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 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	chr19:55728800-55743800	Weak transcription	HSMM	muscle
2	chr19:55728800-55744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:55728800-55745600	Weak transcription	HSMMtube	muscle
4	chr19:55728800-55747800	Weak transcription	Psoas Muscle	Psoas
5	chr19:55728800-55747800	Weak transcription	NH-A	brain
6	chr19:55729400-55744000	Weak transcription	NHDF-Ad	bronchial
7	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
8	chr19:55730800-55744000	Weak transcription	Fetal Kidney	kidney
9	chr19:55733800-55758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:55734200-55758400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:55734600-55759800	Strong transcription	Brain Anterior Caudate	brain
14	chr19:55734800-55758600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr19:55735000-55742600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:55735000-55762400	Strong transcription	Thymus	Thymus
17	chr19:55735200-55742600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:55735200-55744600	Strong transcription	Brain Cingulate Gyrus	brain
19	chr19:55735200-55762200	Strong transcription	Fetal Thymus	thymus
20	chr19:55736800-55744400	Strong transcription	NHLF	lung
21	chr19:55736800-55760000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:55736800-55764200	Strong transcription	Dnd41	blood
23	chr19:55737000-55745000	Strong transcription	Colonic Mucosa	Colon
24	chr19:55737000-55746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:55737000-55758200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr19:55737000-55758200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:55737000-55758400	Strong transcription	Brain Substantia Nigra	brain
28	chr19:55737000-55758600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:55737000-55758800	Strong transcription	Placenta	Placenta
30	chr19:55737000-55759000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:55737000-55760000	Strong transcription	Brain Germinal Matrix	brain
32	chr19:55737000-55760600	Strong transcription	Primary T cells from cord blood	blood
33	chr19:55737200-55744200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr19:55737200-55758200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:55737200-55758400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:55737200-55758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:55737200-55758400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:55737200-55758800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr19:55737200-55759200	Strong transcription	Brain Hippocampus Middle	brain
40	chr19:55737200-55759800	Strong transcription	Lung	lung
41	chr19:55737400-55758600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:55737400-55758600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:55737400-55758600	Strong transcription	Fetal Muscle Leg	muscle
44	chr19:55737400-55758600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:55737400-55758800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:55737400-55759000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:55737400-55759800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:55737400-55760000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:55737600-55743600	Strong transcription	Esophagus	oesophagus
50	chr19:55737600-55744800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links