Variant report

Variant	rs73564008
Chromosome Location	chr19:44616445-44616446
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44616096-44616678	PBDE	blood:	n/a	n/a
2	CREB1	chr19:44616140-44616513	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:44616085-44616495	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:44615929-44616504	ProgFib	skin:	n/a	n/a
5	POU2F2	chr19:44616118-44616459	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:44615699-44617997	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:44616088-44616511	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:44615943-44616568	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr19:44616263-44616493	K562	blood:	n/a	n/a
10	MYC	chr19:44616198-44617646	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF1	chr19:44616223-44616471	SK-N-SH_RA	brain:	n/a	n/a
12	CHD2	chr19:44615814-44616486	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr19:44616077-44616609	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:44616206-44616576	SK-N-MC	brain:	n/a	n/a
15	SREBP1	chr19:44615598-44618744	GM12878	blood:	n/a	chr19:44618400-44618411 chr19:44618107-44618117
16	POLR2A	chr19:44616257-44616536	H1-neurons	neurons:	n/a	n/a
17	CEBPB	chr19:44615915-44616512	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr19:44616238-44616507	GM12878	blood:	n/a	n/a
19	YY1	chr19:44616190-44616637	SK-N-SH	brain:	n/a	n/a
20	POU2F2	chr19:44616042-44616474	GM12891	blood:	n/a	n/a
21	MAX	chr19:44616296-44616447	K562	blood:	n/a	n/a
22	TAF1	chr19:44615933-44616645	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr19:44616043-44616508	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr19:44616117-44616634	SK-N-SH	brain:	n/a	n/a
25	MAX	chr19:44616193-44616520	K562	blood:	n/a	n/a
26	USF1	chr19:44616187-44616496	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:44616263-44616554	HUVEC	blood vessel:	n/a	n/a
28	YY1	chr19:44616266-44616485	GM12891	blood:	n/a	n/a
29	YY1	chr19:44616180-44616609	SK-N-SH_RA	brain:	n/a	n/a
30	POLR2A	chr19:44616062-44616691	HUVEC	blood vessel:	n/a	n/a
31	CEBPB	chr19:44615887-44616910	IMR90	lung:	n/a	chr19:44616762-44616775
32	POLR2A	chr19:44614366-44617257	K562	blood:	n/a	n/a
33	MAX	chr19:44616122-44616645	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:44616034-44616572	SK-N-SH	brain:	n/a	n/a
35	TAF1	chr19:44615978-44616614	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr19:44616049-44616505	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr19:44616406-44617335	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:44615947-44616600	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr19:44616155-44616551	MCF-7	breast:	n/a	n/a
40	MYC	chr19:44616337-44616446	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr19:44615987-44616582	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:44616020-44618008	IMR90	lung:	n/a	n/a
43	SETDB1	chr19:44615990-44616517	U2OS	brain:	n/a	n/a
44	POLR2A	chr19:44616304-44616476	MCF10A-Er-Src	breast:	n/a	n/a
45	GTF2F1	chr19:44616060-44616635	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:44615642-44616692	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:44616378-44616472	Gliobla	brain:	n/a	n/a
48	YY1	chr19:44616264-44616567	GM12891	blood:	n/a	n/a
49	YY1	chr19:44616090-44616603	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr19:44616246-44616608	NT2-D1	testis:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44616225..44617902-chr19:44668355..44670566,2	MCF-7	breast:
2	chr19:44616201..44619073-chr19:44644939..44647380,2	MCF-7	breast:
3	chr19:44603386..44606385-chr19:44614662..44617472,2	K562	blood:
4	chr19:44506534..44508269-chr19:44616199..44620011,3	K562	blood:

No data

Variant related genes	Relation type
ZNF225	TF binding region
ENSG00000159882	Chromatin interaction
ENSG00000167380	Chromatin interaction
ENSG00000266921	Chromatin interaction
ENSG00000267163	Chromatin interaction
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10401658	1.00[AMR][1000 genomes]
rs10402073	1.00[AMR][1000 genomes]
rs10406369	1.00[AMR][1000 genomes]
rs10408394	1.00[AMR][1000 genomes]
rs10410718	1.00[AMR][1000 genomes]
rs58326735	0.83[AMR][1000 genomes]
rs60105043	0.83[AMR][1000 genomes]
rs73553206	1.00[AMR][1000 genomes]
rs73558293	1.00[AMR][1000 genomes]
rs73558296	1.00[AMR][1000 genomes]
rs73564029	0.83[AMR][1000 genomes]
rs73934325	0.83[AMR][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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr19:44612800-44617000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:44615200-44618600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:44615200-44618600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:44615400-44618600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:44615400-44618600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:44615400-44618600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:44615400-44618800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:44615600-44617200	Flanking Active TSS	Dnd41	blood
9	chr19:44615600-44618200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr19:44615600-44618200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:44615600-44618200	Active TSS	NH-A	brain
12	chr19:44615600-44618400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:44615600-44618400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:44615600-44618400	Active TSS	HSMMtube	muscle
15	chr19:44615600-44618600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:44615600-44618600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:44615600-44618600	Active TSS	NHDF-Ad	bronchial
18	chr19:44615600-44618800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr19:44615600-44618800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr19:44615600-44618800	Active TSS	NHLF	lung
21	chr19:44615800-44616800	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr19:44615800-44618200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr19:44615800-44618400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:44615800-44618400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:44615800-44618400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:44615800-44618400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:44615800-44618600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:44615800-44618600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:44615800-44618600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:44615800-44618600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:44615800-44618600	Active TSS	Muscle Satellite Cultured Cells	--
32	chr19:44615800-44618600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:44615800-44618600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:44615800-44618600	Active TSS	NHEK	skin
35	chr19:44615800-44618600	Active TSS	Osteobl	bone
36	chr19:44615800-44618800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:44615800-44618800	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr19:44615800-44618800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:44616000-44616600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr19:44616000-44616600	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr19:44616000-44616600	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr19:44616000-44616600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr19:44616000-44616600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr19:44616000-44616800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr19:44616000-44616800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:44616000-44616800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr19:44616000-44616800	Enhancers	Spleen	Spleen
48	chr19:44616000-44617400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:44616000-44617400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:44616000-44617400	Flanking Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links