Variant report

Variant	rs28486081
Chromosome Location	chr4:7105454-7105455
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	POLR2A	chr4:7104890-7105893	HepG2	liver:	n/a	n/a
2	HNF4A	chr4:7105260-7105783	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105549-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
3	MXI1	chr4:7104730-7105796	HepG2	liver:	n/a	n/a
4	IRF1	chr4:7104828-7105456	K562	blood:	n/a	chr4:7105135-7105149
5	MYBL2	chr4:7105233-7105892	HepG2	liver:	n/a	n/a
6	TAF1	chr4:7104917-7106010	HepG2	liver:	n/a	n/a
7	NFIC	chr4:7105202-7105821	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:7104863-7105882	HepG2	liver:	n/a	n/a
9	RCOR1	chr4:7105253-7105989	HepG2	liver:	n/a	n/a
10	SP1	chr4:7104907-7105845	HepG2	liver:	n/a	chr4:7105138-7105148 chr4:7105590-7105602 chr4:7105138-7105147 chr4:7105137-7105149 chr4:7105139-7105148 chr4:7105591-7105600 chr4:7105138-7105148 chr4:7105115-7105129 chr4:7105137-7105149
11	HDAC2	chr4:7105170-7105790	HepG2	liver:	n/a	chr4:7105491-7105510
12	CHD2	chr4:7105020-7105542	HepG2	liver:	n/a	n/a
13	REST	chr4:7105316-7105731	HepG2	liver:	n/a	chr4:7105494-7105503
14	ZNF143	chr4:7105304-7105571	K562	blood:	n/a	n/a
15	POLR2A	chr4:7104839-7106126	HepG2	liver:	n/a	n/a
16	HNF4A	chr4:7105110-7105862	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105549-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
17	POLR2A	chr4:7104928-7105858	HepG2	liver:	n/a	n/a
18	MAX	chr4:7105190-7105656	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF263	chr4:7104709-7105967	HEK293-T-REx	kidney:	n/a	n/a
20	NFIC	chr4:7104815-7105779	ECC-1	luminal epithelium:	n/a	n/a
21	MBD4	chr4:7105422-7105751	HepG2	liver:	n/a	n/a
22	TBP	chr4:7104910-7105822	HepG2	liver:	n/a	n/a
23	HEY1	chr4:7104791-7105866	HepG2	liver:	n/a	n/a
24	JUND	chr4:7105373-7105772	HepG2	liver:	n/a	n/a
25	TEAD4	chr4:7105211-7105658	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr4:7105322-7105694	HepG2	liver:	n/a	n/a
27	MAZ	chr4:7104690-7105638	K562	blood:	n/a	chr4:7105138-7105148
28	BHLHE40	chr4:7105336-7105646	K562	blood:	n/a	n/a
29	MYC	chr4:7105433-7105672	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:7104672-7105645	PFSK-1	brain:	n/a	n/a
31	TEAD4	chr4:7104759-7105497	K562	blood:	n/a	n/a
32	MAX	chr4:7105414-7105514	A549	lung:	n/a	n/a
33	MAZ	chr4:7104983-7105803	HepG2	liver:	n/a	chr4:7105138-7105148
34	NFIC	chr4:7105110-7105873	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr4:7105214-7105786	HepG2	liver:	n/a	n/a
36	KAP1	chr4:7105301-7105697	U2OS	brain:	n/a	n/a
37	JUND	chr4:7105359-7105708	HepG2	liver:	n/a	n/a
38	CHD2	chr4:7104819-7105480	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr4:7104755-7105546	K562	blood:	n/a	n/a
40	MXI1	chr4:7104445-7105867	SK-N-SH	brain:	n/a	n/a
41	RCOR1	chr4:7105281-7105554	K562	blood:	n/a	n/a
42	POLR2A	chr4:7104937-7105473	IMR90	lung:	n/a	n/a
43	HNF4A	chr4:7105313-7105765	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105549-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
44	SP1	chr4:7105249-7105633	A549	lung:	n/a	chr4:7105590-7105602 chr4:7105591-7105600
45	HEY1	chr4:7104883-7105895	HepG2	liver:	n/a	n/a
46	HNF4G	chr4:7105218-7105778	HepG2	liver:	n/a	chr4:7105550-7105565 chr4:7105550-7105564 chr4:7105548-7105566 chr4:7105551-7105563 chr4:7105551-7105564 chr4:7105550-7105565 chr4:7105551-7105563 chr4:7105550-7105563
47	BRCA1	chr4:7105407-7105588	HepG2	liver:	n/a	n/a
48	YY1	chr4:7104700-7105542	ECC-1	luminal epithelium:	n/a	n/a
49	YY1	chr4:7104749-7105926	HepG2	liver:	n/a	chr4:7105786-7105800
50	MAFK	chr4:7105364-7105555	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7105423..7108283-chr4:7118442..7120103,2	MCF-7	breast:
2	chr4:7103913..7106622-chr4:7111535..7115141,3	K562	blood:
3	chr4:7105147..7106911-chr4:7141540..7143652,2	K562	blood:
4	chr4:7077408..7080531-chr4:7105216..7108085,3	K562	blood:
5	chr4:6783899..6786313-chr4:7103315..7105730,2	K562	blood:
6	chr4:7103913..7105517-chr4:7112314..7115141,2	K562	blood:

Variant related genes	Relation type
ENSG00000245468	TF binding region
ENSG00000200867	Chromatin interaction
ENSG00000170871	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11935945	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59299170	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59625762	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv878534	chr4:7084985-7121880	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv878535	chr4:7093834-7135912	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461191	chr4:7102597-7129001	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv878536	chr4:7102597-7142868	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878537	chr4:7102597-7153642	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv878538	chr4:7102597-7158467	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7103600-7105600	Active TSS	A549	lung
2	chr4:7103600-7105600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr4:7103600-7105800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr4:7103600-7105800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr4:7103600-7106200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr4:7103800-7105600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:7103800-7105600	Active TSS	Fetal Kidney	kidney
8	chr4:7103800-7105800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr4:7103800-7105800	Flanking Active TSS	Liver	Liver
10	chr4:7104000-7105600	Active TSS	Aorta	Aorta
11	chr4:7104200-7105600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:7104200-7105600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:7104200-7105600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:7104200-7105800	Active TSS	Right Atrium	heart
15	chr4:7104400-7105600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:7104400-7105600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr4:7104400-7105600	Enhancers	Fetal Heart	heart
18	chr4:7104400-7105800	Enhancers	Fetal Brain Male	brain
19	chr4:7104400-7106200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr4:7104600-7105600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr4:7104600-7105600	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr4:7104600-7105600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:7104600-7105600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:7104600-7105600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr4:7104600-7105600	Flanking Active TSS	Fetal Brain Female	brain
26	chr4:7104600-7105600	Flanking Active TSS	Pancreas	Pancrea
27	chr4:7104600-7105800	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr4:7104800-7105600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr4:7104800-7105600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:7104800-7105800	Active TSS	Brain Anterior Caudate	brain
31	chr4:7104800-7105800	Active TSS	HSMMtube	muscle
32	chr4:7105000-7106000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:7105200-7105600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr4:7105200-7105600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
35	chr4:7105200-7105600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:7105200-7105600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:7105200-7105600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:7105200-7105600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr4:7105200-7105600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr4:7105200-7105600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr4:7105200-7105600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:7105200-7105600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:7105200-7105600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:7105200-7105600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:7105200-7105600	Flanking Active TSS	Esophagus	oesophagus
46	chr4:7105200-7105600	Flanking Active TSS	Placenta	Placenta
47	chr4:7105200-7105600	Flanking Active TSS	Ovary	ovary
48	chr4:7105200-7105600	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr4:7105200-7105600	Flanking Active TSS	Right Ventricle	heart
50	chr4:7105200-7105600	Flanking Active TSS	Stomach Mucosa	stomach

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