Variant report

Variant	rs73621373
Chromosome Location	chr19:55796370-55796371
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	MAZ	chr19:55794951-55797382	IMR90	lung:	n/a	chr19:55795773-55795783
2	ZNF263	chr19:55796110-55797362	HEK293-T-REx	kidney:	n/a	chr19:55797079-55797088 chr19:55796426-55796447 chr19:55796389-55796410

No.	Distal block	Cell Line	Cell type
1	chr19:55795849..55798225-chr19:55800682..55803471,3	K562	blood:
2	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
3	chr19:55795553..55797750-chr19:55917635..55920428,2	MCF-7	breast:
4	chr19:55790346..55793216-chr19:55794114..55797002,3	MCF-7	breast:
5	chr19:55794940..55798200-chr19:55895681..55898839,3	K562	blood:
6	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:

Variant related genes	Relation type
HSPBP1	TF binding region
ENSG00000105063	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59183353	1.00[AMR][1000 genomes]
rs61734256	1.00[AMR][1000 genomes]
rs73607027	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv3442638	chr19:55794165-55797013	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55791800-55796600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:55792400-55796800	Weak transcription	Gastric	stomach
3	chr19:55792400-55797000	Weak transcription	Pancreas	Pancrea
4	chr19:55793000-55796400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:55793000-55796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:55793000-55796800	Weak transcription	Spleen	Spleen
7	chr19:55794000-55796400	Weak transcription	K562	blood
8	chr19:55794800-55796400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:55794800-55797000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:55795000-55796400	Active TSS	Right Atrium	heart
11	chr19:55795000-55797000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:55795000-55797200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:55795000-55797200	Active TSS	HSMM	muscle
14	chr19:55795000-55797200	Active TSS	NHLF	lung
15	chr19:55795200-55796400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:55795200-55796400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:55795200-55796400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:55795200-55796400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:55795200-55796400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:55795200-55796400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:55795200-55796400	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:55795200-55796400	Weak transcription	A549	lung
23	chr19:55795200-55796600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:55795200-55796600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:55795200-55796800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr19:55795200-55796800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:55795200-55796800	Active TSS	Brain Angular Gyrus	brain
28	chr19:55795200-55796800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:55795200-55797000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr19:55795200-55797000	Active TSS	Brain Anterior Caudate	brain
31	chr19:55795200-55797000	Active TSS	Brain Hippocampus Middle	brain
32	chr19:55795200-55797000	Active TSS	Rectal Smooth Muscle	rectum
33	chr19:55795200-55797200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr19:55795200-55797200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:55795200-55797200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:55795200-55803000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:55795400-55806600	Weak transcription	HSMMtube	muscle
38	chr19:55795400-55813000	Weak transcription	Fetal Kidney	kidney
39	chr19:55795600-55796400	Active TSS	Brain Substantia Nigra	brain
40	chr19:55795600-55797000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr19:55795800-55796400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:55795800-55796400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr19:55795800-55796600	Weak transcription	NHDF-Ad	bronchial
44	chr19:55795800-55797000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:55796000-55796400	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr19:55796000-55796600	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr19:55796000-55796800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr19:55796000-55796800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:55796000-55797000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:55796000-55797000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links