Variant report

Variant	rs58091808
Chromosome Location	chr4:54232482-54232483
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	TAF1	chr4:54232072-54232499	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr4:54231778-54232581	HepG2	liver:	n/a	n/a
3	GATA1	chr4:54230902-54233271	K562	blood:	n/a	chr4:54233253-54233262
4	MYC	chr4:54231684-54232596	A549	lung:	n/a	chr4:54232209-54232222 chr4:54232210-54232221 chr4:54232366-54232382 chr4:54232212-54232221
5	MAX	chr4:54231888-54232498	A549	lung:	n/a	chr4:54232209-54232222 chr4:54232210-54232221 chr4:54232366-54232382 chr4:54232212-54232221
6	GATA3	chr4:54232187-54232585	T-47D	breast:	n/a	n/a
7	ZNF143	chr4:54232057-54232614	GM12878	blood:	n/a	n/a
8	IRF1	chr4:54232025-54232511	K562	blood:	n/a	chr4:54232495-54232511 chr4:54232274-54232283
9	POLR2A	chr4:54231483-54232749	PBDE	blood:	n/a	n/a
10	MAX	chr4:54231828-54232607	SK-N-SH	brain:	n/a	chr4:54232209-54232222 chr4:54232210-54232221 chr4:54232366-54232382 chr4:54232212-54232221
11	SP1	chr4:54232093-54232514	H1-hESC	embryonic stem cell:	n/a	chr4:54232263-54232284 chr4:54232329-54232339 chr4:54232328-54232340 chr4:54232329-54232339
12	SP1	chr4:54232095-54232510	HepG2	liver:	n/a	chr4:54232263-54232284 chr4:54232329-54232339 chr4:54232328-54232340 chr4:54232329-54232339
13	USF1	chr4:54231919-54232554	HCT-116	colon:	n/a	n/a
14	TCF12	chr4:54231906-54232630	ECC-1	luminal epithelium:	n/a	n/a
15	USF1	chr4:54231983-54232489	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr4:54231615-54232719	MCF-7	breast:	n/a	n/a
17	CREB1	chr4:54231914-54232596	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr4:54232007-54232531	IMR90	lung:	n/a	n/a
19	PML	chr4:54232008-54232543	GM12878	blood:	n/a	n/a
20	CREB1	chr4:54231791-54232623	ECC-1	luminal epithelium:	n/a	n/a
21	CREB1	chr4:54231937-54232604	K562	blood:	n/a	n/a
22	TAF1	chr4:54231914-54232536	GM12891	blood:	n/a	n/a
23	ELF1	chr4:54231771-54232550	HepG2	liver:	n/a	chr4:54232165-54232178
24	POLR2A	chr4:54231379-54232545	Gliobla	brain:	n/a	n/a
25	POLR2A	chr4:54231405-54232591	MCF-7	breast:	n/a	n/a
26	CHD2	chr4:54231618-54232557	Hela-S3	cervix:	n/a	n/a
27	HCFC1	chr4:54231070-54232843	Hela-S3	cervix:	n/a	n/a
28	ELF1	chr4:54231862-54232486	K562	blood:	n/a	chr4:54232165-54232178
29	MAX	chr4:54231851-54232591	GM12878	blood:	n/a	chr4:54232209-54232222 chr4:54232210-54232221 chr4:54232366-54232382 chr4:54232212-54232221
30	ZNF143	chr4:54232118-54232684	K562	blood:	n/a	n/a
31	POLR2A	chr4:54231945-54232502	H1-neurons	neurons:	n/a	n/a
32	JUND	chr4:54231987-54232734	K562	blood:	n/a	chr4:54232160-54232168
33	MAX	chr4:54231578-54232636	ECC-1	luminal epithelium:	n/a	chr4:54232209-54232222 chr4:54232210-54232221 chr4:54232366-54232382 chr4:54232212-54232221
34	JUN	chr4:54231199-54233391	K562	blood:	n/a	chr4:54233236-54233244 chr4:54232160-54232168
35	POLR2A	chr4:54231957-54232522	GM12891	blood:	n/a	n/a
36	MAZ	chr4:54231887-54232666	GM12878	blood:	n/a	chr4:54232209-54232222 chr4:54232210-54232221 chr4:54232366-54232382 chr4:54232212-54232221
37	POLR2A	chr4:54232034-54232509	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr4:54232005-54232513	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr4:54231770-54232623	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr4:54231879-54232544	K562	blood:	n/a	chr4:54232209-54232222 chr4:54232210-54232221 chr4:54232366-54232382 chr4:54232212-54232221
41	RCOR1	chr4:54231291-54232599	K562	blood:	n/a	n/a
42	SRF	chr4:54231898-54232517	MCF-7	breast:	n/a	n/a
43	MYBL2	chr4:54231937-54232862	HepG2	liver:	n/a	n/a
44	ELF1	chr4:54231239-54232509	GM12878	blood:	n/a	chr4:54232165-54232178
45	HA-E2F1	chr4:54231939-54232619	MCF-7	breast:	n/a	chr4:54232274-54232283
46	ELF1	chr4:54231912-54232559	SK-N-SH	brain:	n/a	chr4:54232165-54232178
47	MXI1	chr4:54230837-54232923	IMR90	lung:	n/a	chr4:54232212-54232221
48	GATA3	chr4:54231994-54232736	MCF-7	breast:	n/a	n/a
49	SIN3AK20	chr4:54231841-54232498	PFSK-1	brain:	n/a	n/a
50	SP1	chr4:54231986-54232568	H1-hESC	embryonic stem cell:	n/a	chr4:54232263-54232284 chr4:54232329-54232339 chr4:54232328-54232340 chr4:54232329-54232339

No.	Distal block	Cell Line	Cell type
1	chr4:54231892..54232556-chr4:54243887..54244579,2	MCF-7	breast:
2	chr3:196669127..196670018-chr4:54231923..54232709,2	Hela-S3	cervix:
3	chr4:54231262..54233846-chr4:54243717..54245288,2	MCF-7	breast:
4	chr4:54230756..54233682-chr4:54240977..54245711,5	MCF-7	breast:
5	chr17:57408737..57409389-chr4:54231927..54232604,2	NB4	blood:

Variant related genes	Relation type
SCFD2	TF binding region
ENSG00000270170	Chromatin interaction
ENSG00000114503	Chromatin interaction
ENSG00000175155	Chromatin interaction
ENSG00000145216	Chromatin interaction

rs_ID	r²[population]
rs59830891	0.85[AFR][1000 genomes]

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54224800-54233000	Active TSS	GM12878-XiMat	blood
2	chr4:54227800-54232600	Active TSS	NHLF	lung
3	chr4:54229200-54232600	Active TSS	NHDF-Ad	bronchial
4	chr4:54230000-54232800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:54230000-54232800	Active TSS	A549	lung
6	chr4:54230200-54232600	Active TSS	Muscle Satellite Cultured Cells	--
7	chr4:54230400-54232800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:54230400-54233000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:54230600-54232600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:54230600-54232600	Active TSS	Fetal Intestine Large	intestine
11	chr4:54230600-54232600	Active TSS	NHEK	skin
12	chr4:54230600-54233000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:54230600-54233000	Active TSS	Fetal Kidney	kidney
14	chr4:54230600-54233000	Active TSS	HSMM	muscle
15	chr4:54230800-54232600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:54230800-54232600	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr4:54230800-54232600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:54230800-54232800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:54230800-54233000	Active TSS	Ovary	ovary
20	chr4:54230800-54233000	Active TSS	Psoas Muscle	Psoas
21	chr4:54230800-54233000	Active TSS	Right Atrium	heart
22	chr4:54230800-54233000	Active TSS	HSMMtube	muscle
23	chr4:54230800-54233200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr4:54231000-54232600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:54231000-54232600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:54231000-54232600	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:54231000-54233000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:54231000-54233000	Active TSS	Fetal Intestine Small	intestine
29	chr4:54231200-54232600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:54231200-54232600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:54231200-54232600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr4:54231200-54232600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr4:54231200-54232600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:54231200-54232600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:54231200-54232600	Active TSS	Small Intestine	intestine
36	chr4:54231200-54232800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:54231200-54232800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:54231200-54232800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr4:54231200-54232800	Active TSS	Left Ventricle	heart
40	chr4:54231200-54232800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr4:54231200-54233000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:54231400-54232600	Active TSS	Pancreas	Pancrea
43	chr4:54231400-54232600	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr4:54231400-54232800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr4:54231400-54232800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr4:54231400-54232800	Active TSS	Stomach Mucosa	stomach
47	chr4:54231400-54233000	Active TSS	Osteobl	bone
48	chr4:54231400-54233200	Active TSS	Colon Smooth Muscle	Colon
49	chr4:54231600-54232600	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr4:54231600-54232600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links