Variant report

Variant	rs566122563
Chromosome Location	chr4:166247978-166247979
allele	A/C
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	chr4:166247871-166251222	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:166247836-166249651	GM19099	blood:	n/a	n/a
3	POLR2A	chr4:166247962-166249410	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr4:166247947-166248254	ECC-1	luminal epithelium:	n/a	n/a
5	EGR1	chr4:166247936-166249110	ECC-1	luminal epithelium:	n/a	chr4:166248570-166248583 chr4:166248569-166248584 chr4:166248040-166248054 chr4:166248570-166248583
6	POLR2A	chr4:166247554-166249174	SK-N-SH	brain:	n/a	n/a
7	NR2F2	chr4:166247900-166248932	K562	blood:	n/a	n/a
8	POLR2A	chr4:166246756-166254107	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:166247768-166249353	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:166247914-166249608	H1-neurons	neurons:	n/a	n/a
11	TBP	chr4:166247738-166248973	Hela-S3	cervix:	n/a	n/a
12	EGR1	chr4:166247853-166248234	K562	blood:	n/a	chr4:166248040-166248054
13	MYC	chr4:166247965-166249280	MCF10A-Er-Src	breast:	n/a	chr4:166248947-166248957 chr4:166248570-166248580
14	EGR1	chr4:166247906-166248166	GM12878	blood:	n/a	chr4:166248040-166248054
15	POLR2A	chr4:166247782-166250685	HepG2	liver:	n/a	n/a
16	CHD1	chr4:166247763-166249723	GM12878	blood:	n/a	n/a
17	CUX1	chr4:166247860-166248293	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:166247960-166249421	GM18951	blood:	n/a	n/a
19	SIN3A	chr4:166247613-166250336	H1-hESC	embryonic stem cell:	n/a	chr4:166248619-166248633 chr4:166248448-166248461
20	POLR2A	chr4:166247716-166249507	HCT-116	colon:	n/a	n/a
21	MBD4	chr4:166247977-166248517	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:166247931-166248886	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr4:166247971-166249261	K562	blood:	n/a	n/a
24	JUND	chr4:166247749-166249502	K562	blood:	n/a	chr4:166248765-166248774 chr4:166248995-166249004
25	EGR1	chr4:166247864-166248277	K562	blood:	n/a	chr4:166248040-166248054
26	POLR2A	chr4:166247938-166250023	K562	blood:	n/a	n/a
27	ZNF143	chr4:166247851-166249450	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:166247937-166249553	ECC-1	luminal epithelium:	n/a	n/a
29	JUN	chr4:166245200-166249708	K562	blood:	n/a	chr4:166248765-166248774 chr4:166248995-166249004
30	SREBP2	chr4:166247205-166250483	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:166247767-166249743	GM18505	blood:	n/a	n/a
32	CREB1	chr4:166247899-166249583	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:166247085-166250539	HepG2	liver:	n/a	n/a
34	EGR1	chr4:166247805-166249096	HCT-116	colon:	n/a	chr4:166248570-166248583 chr4:166248569-166248584 chr4:166248040-166248054 chr4:166248570-166248583
35	POLR2A	chr4:166247884-166249671	GM12892	blood:	n/a	n/a
36	MYBL2	chr4:166247891-166249185	HepG2	liver:	n/a	n/a
37	PML	chr4:166247880-166249448	GM12878	blood:	n/a	n/a
38	MAZ	chr4:166247858-166249338	K562	blood:	n/a	chr4:166248947-166248957 chr4:166248570-166248580
39	TBP	chr4:166247969-166249308	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr4:166247926-166249186	K562	blood:	n/a	chr4:166248947-166248957 chr4:166248570-166248580
41	RUNX3	chr4:166247671-166249401	GM12878	blood:	n/a	n/a
42	MTA3	chr4:166247890-166249556	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:166247799-166249574	K562	blood:	n/a	n/a
44	POLR2A	chr4:166246538-166254097	GM12891	blood:	n/a	n/a
45	POLR2A	chr4:166246445-166267299	K562	blood:	n/a	n/a
46	CTCF	chr4:166247860-166248010	GM06990	blood:	n/a	n/a
47	POLR2A	chr4:166247954-166248640	K562	blood:	n/a	n/a
48	IRF1	chr4:166247023-166249463	K562	blood:	n/a	chr4:166248819-166248833 chr4:166248634-166248643 chr4:166248760-166248774 chr4:166248565-166248579
49	POLR2A	chr4:166247484-166249930	Raji	blood:	n/a	n/a
50	MYC	chr4:166247781-166248289	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:166033254..166035775-chr4:166247057..166248909,2	MCF-7	breast:
2	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
3	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:
4	chr4:166128531..166130929-chr4:166246215..166249595,5	MCF-7	breast:
5	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:

Variant related genes	Relation type
MSMO1	TF binding region
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3422247	chr4:166247552-166250050	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr4:166223400-166248000	Weak transcription	Gastric	stomach
2	chr4:166233000-166248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:166233400-166248000	Weak transcription	Left Ventricle	heart
4	chr4:166246600-166248000	Enhancers	Placenta	Placenta
5	chr4:166246600-166248000	Enhancers	Pancreas	Pancrea
6	chr4:166246800-166248000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:166246800-166248000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr4:166246800-166248200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:166247000-166248000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:166247000-166248000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:166247000-166248000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:166247000-166248000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:166247000-166248000	Flanking Active TSS	Hela-S3	cervix
14	chr4:166247000-166248000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr4:166247000-166251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:166247200-166248000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:166247200-166248000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:166247200-166248000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:166247200-166248000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:166247200-166248000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:166247200-166248000	Flanking Active TSS	NH-A	brain
22	chr4:166247200-166248000	Flanking Active TSS	NHEK	skin
23	chr4:166247200-166248200	Flanking Active TSS	Osteobl	bone
24	chr4:166247200-166248400	Weak transcription	Lung	lung
25	chr4:166247400-166248000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:166247400-166248000	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:166247400-166248000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:166247400-166248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:166247400-166248000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:166247400-166248000	Enhancers	Stomach Mucosa	stomach
31	chr4:166247400-166248000	Flanking Active TSS	Dnd41	blood
32	chr4:166247400-166248000	Flanking Active TSS	NHLF	lung
33	chr4:166247400-166248200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:166247400-166250400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:166247600-166248000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr4:166247600-166248000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:166247600-166248000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr4:166247600-166248000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr4:166247600-166248000	Flanking Active TSS	Fetal Heart	heart
40	chr4:166247600-166248000	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr4:166247600-166248000	Enhancers	Small Intestine	intestine
42	chr4:166247600-166248000	Flanking Active TSS	HMEC	breast
43	chr4:166247600-166248200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:166247600-166248400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr4:166247600-166249200	Active TSS	Rectal Smooth Muscle	rectum
46	chr4:166247600-166249200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr4:166247600-166249200	Active TSS	Stomach Smooth Muscle	stomach
48	chr4:166247600-166249600	Active TSS	Thymus	Thymus
49	chr4:166247600-166249800	Active TSS	A549	lung
50	chr4:166247600-166250000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links