Variant report

Variant	rs11547806
Chromosome Location	chr19:44303066-44303067
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr19:44302765-44303268	K562	blood:	n/a	chr19:44302863-44302874 chr19:44302864-44302875 chr19:44302951-44302963 chr19:44302865-44302875
2	MAX	chr19:44302585-44303366	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr19:44302644-44303112	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr19:44302284-44303531	HCT-116	colon:	n/a	n/a
5	TCF7L2	chr19:44302696-44303268	HCT-116	colon:	n/a	n/a
6	E2F4	chr19:44302721-44303181	MCF10A-Er-Src	breast:	n/a	chr19:44302863-44302874 chr19:44302864-44302875 chr19:44302951-44302963 chr19:44302865-44302875
7	JUND	chr19:44302792-44303315	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr19:44302811-44303105	K562	blood:	n/a	n/a
9	FOS	chr19:44302815-44303150	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr19:44302809-44303139	HepG2	liver:	n/a	n/a
11	STAT3	chr19:44302811-44303217	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:44302619-44303235	HCT-116	colon:	n/a	n/a
13	POLR2A	chr19:44302891-44303167	K562	blood:	n/a	n/a
14	POLR2A	chr19:44302610-44303291	HCT-116	colon:	n/a	n/a
15	ELF1	chr19:44302895-44303130	K562	blood:	n/a	n/a
16	JUND	chr19:44302858-44303152	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr19:44302647-44303224	K562	blood:	n/a	n/a
18	ZBTB7A	chr19:44302894-44303204	K562	blood:	n/a	n/a
19	JUND	chr19:44302866-44303091	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF2	chr19:44302925-44303236	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:44302866-44303192	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr19:44302643-44303379	H1-hESC	embryonic stem cell:	n/a	chr19:44302863-44302874 chr19:44302864-44302875 chr19:44302951-44302963 chr19:44302865-44302875
23	FOSL1	chr19:44302866-44303161	K562	blood:	n/a	chr19:44302987-44302998
24	ATF3	chr19:44302853-44303142	K562	blood:	n/a	n/a
25	MXI1	chr19:44302734-44303240	H1-hESC	embryonic stem cell:	n/a	n/a
26	TBP	chr19:44302825-44303314	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr19:44302763-44303241	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:44302887-44303242	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr19:44302596-44303311	A549	lung:	n/a	n/a
30	SIN3AK20	chr19:44302903-44303196	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr19:44302527-44303306	ECC-1	luminal epithelium:	n/a	n/a
32	SIN3A	chr19:44302570-44303355	H1-hESC	embryonic stem cell:	n/a	chr19:44302948-44302959
33	HMGN3	chr19:44302600-44303134	K562	blood:	n/a	n/a
34	POLR2A	chr19:44302564-44303234	HCT-116	colon:	n/a	n/a
35	IRF1	chr19:44302748-44303249	K562	blood:	n/a	chr19:44303142-44303156
36	POLR2A	chr19:44303017-44303217	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr19:44302612-44303395	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF12	chr19:44302537-44303264	ECC-1	luminal epithelium:	n/a	n/a
39	ZNF263	chr19:44301624-44303510	HEK293-T-REx	kidney:	n/a	chr19:44303227-44303248
40	NFIC	chr19:44302584-44303199	ECC-1	luminal epithelium:	n/a	n/a
41	MYC	chr19:44302726-44303087	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F1	chr19:44302694-44303203	Hela-S3	cervix:	n/a	chr19:44302863-44302874 chr19:44302863-44302874 chr19:44302864-44302875 chr19:44302951-44302963 chr19:44302865-44302875
43	CHD2	chr19:44302587-44303272	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr19:44302978-44303215	K562	blood:	n/a	n/a
45	POLR2A	chr19:44302686-44303256	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F6	chr19:44302558-44303431	H1-hESC	embryonic stem cell:	n/a	chr19:44302863-44302874 chr19:44302864-44302875 chr19:44302951-44302963 chr19:44302865-44302875
47	BHLHE40	chr19:44303011-44303272	K562	blood:	n/a	n/a
48	MAZ	chr19:44302865-44303089	K562	blood:	n/a	n/a
49	FOS	chr19:44302812-44303126	MCF10A-Er-Src	breast:	n/a	n/a
50	TAF1	chr19:44302825-44303230	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44303058-44303108	K562	blood:	n/a
2	chr19:44303058-44303108	SK-N-SH_RA	brain:	n/a
3	chr19:44303058-44303108	HepG2	liver:	n/a
4	chr19:44303058-44303108	ProgFib	skin:	n/a
5	chr19:44303058-44303108	HCF	heart:	n/a
6	chr19:44303058-44303108	GM12891	blood:	n/a
7	chr19:44303058-44303108	SK-N-MC	brain:	n/a
8	chr19:44303058-44303108	HIPEpiC	eye:	n/a
9	chr19:44303058-44303108	HUVEC	blood vessel:	n/a
10	chr19:44303058-44303108	Jurkat	blood:	n/a
11	chr19:44303058-44303108	NHBE	bronchial:	n/a
12	chr19:44303058-44303108	RPTEC	kidney:	n/a
13	chr19:44303058-44303108	HAEpiC	amniotic membrane:	n/a
14	chr19:44303058-44303108	BJ	skin:	n/a
15	chr19:44303058-44303108	HRE	kidney:	n/a
16	chr19:44303058-44303108	ovcar-3	ovarian:	n/a
17	chr19:44303058-44303108	Caco-2	colon:	n/a
18	chr19:44303058-44303108	SKMC	muscle:	n/a
19	chr19:44303058-44303108	HRCEpiC	kidney:	n/a
20	chr19:44303058-44303108	GM12892	blood:	n/a
21	chr19:44303058-44303108	HNPCEpiC	eye:	n/a
22	chr19:44303058-44303108	PANC-1	pancreas:	n/a
23	chr19:44303058-44303108	GM19239	blood:	n/a
24	chr19:44303058-44303108	SAEC	small airway:	n/a
25	chr19:44303058-44303108	Hepatocyte	liver:	n/a
26	chr19:44303058-44303108	IMR90	lung:	fetal
27	chr19:44303058-44303108	NH-A	brain:	n/a
28	chr19:44303058-44303108	ECC-1	luminal epithelium:	n/a
29	chr19:44303058-44303108	HEK293	kidney:	embryo
30	chr19:44303058-44303108	AG09309	skin:	n/a
31	chr19:44303058-44303108	T-47D	breast:	n/a
32	chr19:44303058-44303108	NHDF-neo	bronchial:	n/a
33	chr19:44303058-44303108	AG10803	skin:	n/a
34	chr19:44303058-44303108	AG09319	gingival:	n/a
35	chr19:44303058-44303108	GM12878	blood:	n/a
36	chr19:44303058-44303108	PFSK-1	brain:	n/a
37	chr19:44303058-44303108	HCPEpiC	choroid plexus:	n/a
38	chr19:44303058-44303108	HEEpiC	esophagus:	n/a
39	chr19:44303058-44303108	NB4	blood:	n/a
40	chr19:44303058-44303108	Hela-S3	cervix:	n/a
41	chr19:44303058-44303108	PrEC	prostate:	n/a
42	chr19:44303058-44303108	HPAEpiC	pulmonary alveolar:	n/a
43	chr19:44303058-44303108	AG04450	lung:	fetal
44	chr19:44303058-44303108	MCF10A-Er-Src	breast:	n/a
45	chr19:44303058-44303108	HL-60	blood:	n/a
46	chr19:44303058-44303108	NT2-D1	testis:	n/a
47	chr19:44303058-44303108	CMK	blood:	n/a
48	chr19:44303058-44303108	H1-hESC	embryonic stem cell:	embryo
49	chr19:44303058-44303108	A549	lung:	n/a
50	chr19:44303058-44303108	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44301885..44304341-chr19:44304382..44306763,2	K562	blood:

No data

Variant related genes	Relation type
LYPD5	TF binding region
ENSG00000268601	TF binding region
ENSG00000268601	CpG island
LYPD5	CpG island
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10416177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10422108	0.82[ASN][1000 genomes]
rs11083724	0.82[ASN][1000 genomes]
rs11083725	0.95[CEU][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12611428	0.82[ASN][1000 genomes]
rs1386502	0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs349053	0.86[AFR][1000 genomes]
rs349055	0.89[AFR][1000 genomes]
rs4803659	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs67648499	0.82[ASN][1000 genomes]
rs67704568	0.82[ASN][1000 genomes]
rs7251074	0.81[ASN][1000 genomes]
rs8104300	0.82[ASN][1000 genomes]
rs8109478	0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs8109812	0.89[CHB][hapmap];0.82[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44302200-44303200	Flanking Active TSS	GM12878-XiMat	blood
2	chr19:44302200-44303400	Active TSS	Brain Angular Gyrus	brain
3	chr19:44302200-44303400	Active TSS	Brain Anterior Caudate	brain
4	chr19:44302400-44303200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:44302400-44303200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr19:44302400-44303200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr19:44302400-44303200	Active TSS	K562	blood
8	chr19:44302400-44303400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:44302400-44303400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:44302400-44303400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:44302400-44303400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:44302400-44303400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
13	chr19:44302400-44303400	Active TSS	Brain Cingulate Gyrus	brain
14	chr19:44302400-44303400	Flanking Active TSS	Colonic Mucosa	Colon
15	chr19:44302400-44303400	Flanking Active TSS	Spleen	Spleen
16	chr19:44302400-44303400	Active TSS	A549	lung
17	chr19:44302400-44303600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:44302400-44303600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr19:44302400-44303600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:44302400-44303600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr19:44302400-44303800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:44302400-44303800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr19:44302400-44304000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:44302400-44304400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:44302600-44303200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr19:44302600-44303200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:44302600-44303200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr19:44302600-44303200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr19:44302600-44303200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr19:44302600-44303200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
31	chr19:44302600-44303200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:44302600-44303200	Flanking Active TSS	Liver	Liver
33	chr19:44302600-44303200	Flanking Active TSS	Right Ventricle	heart
34	chr19:44302600-44303200	Flanking Active TSS	Thymus	Thymus
35	chr19:44302600-44303200	Active TSS	Hela-S3	cervix
36	chr19:44302600-44303400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:44302600-44303400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:44302600-44303400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:44302600-44303400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr19:44302600-44303400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:44302600-44303400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr19:44302600-44303400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:44302600-44303400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:44302600-44303400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr19:44302600-44303400	Bivalent/Poised TSS	Fetal Kidney	kidney
46	chr19:44302600-44303400	Bivalent/Poised TSS	Fetal Lung	lung
47	chr19:44302600-44303400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr19:44302600-44303400	Flanking Active TSS	Gastric	stomach
49	chr19:44302600-44303400	Flanking Active TSS	Pancreas	Pancrea
50	chr19:44302600-44303400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links