Variant report

Variant	rs190557161
Chromosome Location	chr18:43913567-43913568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr18:43912986-43914086	Hela-S3	cervix:	n/a	chr18:43913176-43913186
2	POLR2A	chr18:43913285-43914095	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr18:43913251-43914211	Hela-S3	cervix:	n/a	chr18:43913992-43913999 chr18:43914023-43914030
4	MAZ	chr18:43913074-43914122	Hela-S3	cervix:	n/a	n/a
5	TCF7L2	chr18:43912918-43914059	Hela-S3	cervix:	n/a	chr18:43914026-43914033
6	GTF2F1	chr18:43913448-43913652	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr18:43912857-43916158	Hela-S3	cervix:	n/a	n/a
8	USF2	chr18:43912300-43913598	Hela-S3	cervix:	n/a	chr18:43913076-43913087
9	POLR2A	chr18:43913567-43914113	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr18:43913268-43914379	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr18:43913366-43914297	SK-N-MC	brain:	n/a	n/a
12	RAD21	chr18:43913402-43913801	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr18:43913016-43915273	HL-60	blood:	n/a	n/a
14	POLR2A	chr18:43913557-43914095	HCT-116	colon:	n/a	n/a
15	TBP	chr18:43913425-43913789	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr18:43913343-43915176	Hela-S3	cervix:	n/a	chr18:43914848-43914858 chr18:43914455-43914465
17	MYC	chr18:43913013-43913848	MCF-7	breast:	n/a	chr18:43913176-43913186
18	ZKSCAN1	chr18:43913413-43913982	Hela-S3	cervix:	n/a	n/a
19	TEAD4	chr18:43912821-43914131	ECC-1	luminal epithelium:	n/a	n/a
20	SMARCB1	chr18:43912972-43914021	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr18:43913500-43913650	SAEC	small airway:	n/a	n/a
22	SIN3A	chr18:43912974-43916082	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr18:43913488-43914045	A549	lung:	n/a	n/a
24	MAX	chr18:43912826-43914017	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
25	KAP1	chr18:43912996-43913731	HEK293	kidney:	n/a	n/a
26	POLR2A	chr18:43913334-43914103	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr18:43913027-43913927	Hela-S3	cervix:	n/a	n/a
28	TEAD4	chr18:43913279-43913711	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF263	chr18:43913402-43913909	HEK293-T-REx	kidney:	n/a	n/a
30	CEBPB	chr18:43913479-43914028	Hela-S3	cervix:	n/a	n/a
31	MAX	chr18:43913557-43913581	HepG2	liver:	n/a	n/a
32	MXI1	chr18:43912927-43913862	H1-hESC	embryonic stem cell:	n/a	chr18:43912999-43913014
33	GABPA	chr18:43913389-43913704	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr18:43913165-43913741	MCF10A-Er-Src	breast:	n/a	chr18:43913176-43913186
35	MAX	chr18:43912978-43913739	H1-hESC	embryonic stem cell:	n/a	chr18:43913176-43913186
36	POLR2A	chr18:43913394-43914173	ECC-1	luminal epithelium:	n/a	n/a
37	TCF7L2	chr18:43913412-43915031	HCT-116	colon:	n/a	chr18:43914026-43914033
38	MYC	chr18:43913288-43913833	MCF10A-Er-Src	breast:	n/a	n/a
39	ZNF143	chr18:43913378-43913661	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF1	chr18:43912837-43913792	ECC-1	luminal epithelium:	n/a	n/a
41	TEAD4	chr18:43913191-43913913	ECC-1	luminal epithelium:	n/a	n/a
42	RCOR1	chr18:43913380-43914050	Hela-S3	cervix:	n/a	n/a
43	REST	chr18:43912734-43917838	H1-neurons	neurons:	n/a	chr18:43917397-43917404
44	TEAD4	chr18:43913297-43913772	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr18:43913360-43914167	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr18:43913381-43914337	H1-hESC	embryonic stem cell:	n/a	n/a
47	HA-E2F1	chr18:43912907-43914083	MCF-7	breast:	n/a	chr18:43913835-43913846 chr18:43913992-43913999 chr18:43913861-43913870 chr18:43913760-43913774 chr18:43913987-43914001 chr18:43914023-43914030
48	MXI1	chr18:43912774-43920041	SK-N-SH	brain:	n/a	chr18:43912999-43913014
49	MAX	chr18:43912884-43913952	MCF-7	breast:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
50	MYC	chr18:43913436-43913735	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:43913565-43913615	AG10803	skin:	n/a
2	chr18:43913565-43913615	HRPEpiC	eye:	n/a
3	chr18:43913565-43913615	SK-N-SH	brain:	n/a
4	chr18:43913565-43913615	AG04450	lung:	fetal
5	chr18:43913565-43913615	SK-N-SH_RA	brain:	n/a
6	chr18:43913565-43913615	Hela-S3	cervix:	n/a
7	chr18:43913565-43913615	SK-N-MC	brain:	n/a
8	chr18:43913565-43913615	GM12892	blood:	n/a
9	chr18:43913565-43913615	ECC-1	luminal epithelium:	n/a
10	chr18:43913565-43913615	CMK	blood:	n/a
11	chr18:43913565-43913615	BJ	skin:	n/a
12	chr18:43913565-43913615	HNPCEpiC	eye:	n/a
13	chr18:43913565-43913615	AG04449	skin:	fetal
14	chr18:43913565-43913615	NH-A	brain:	n/a
15	chr18:43913565-43913615	HRE	kidney:	n/a
16	chr18:43913565-43913615	HCM	heart:	n/a
17	chr18:43913565-43913615	AG09319	gingival:	n/a
18	chr18:43913565-43913615	ovcar-3	ovarian:	n/a
19	chr18:43913565-43913615	MCF10A-Er-Src	breast:	n/a
20	chr18:43913565-43913615	PFSK-1	brain:	n/a
21	chr18:43913565-43913615	HepG2	liver:	n/a
22	chr18:43913565-43913615	NHDF-neo	bronchial:	n/a
23	chr18:43913565-43913615	PANC-1	pancreas:	n/a
24	chr18:43913565-43913615	NHBE	bronchial:	n/a
25	chr18:43913565-43913615	AG09309	skin:	n/a
26	chr18:43913565-43913615	HEK293	kidney:	embryo
27	chr18:43913565-43913615	ProgFib	skin:	n/a
28	chr18:43913565-43913615	RPTEC	kidney:	n/a
29	chr18:43913565-43913615	MCF-7	breast:	n/a
30	chr18:43913565-43913615	SKMC	muscle:	n/a
31	chr18:43913565-43913615	AoSMC	blood vessel:	n/a
32	chr18:43913565-43913615	Hepatocyte	liver:	n/a
33	chr18:43913565-43913615	NB4	blood:	n/a
34	chr18:43913565-43913615	T-47D	breast:	n/a
35	chr18:43913565-43913615	HMEC	breast:	n/a
36	chr18:43913565-43913615	LNCaP	prostate:	n/a
37	chr18:43913565-43913615	BE2_C	brain:	n/a
38	chr18:43913565-43913615	GM12878	blood:	n/a
39	chr18:43913565-43913615	Caco-2	colon:	n/a
40	chr18:43913565-43913615	U87	brain:	n/a
41	chr18:43913565-43913615	HCT-116	colon:	n/a
42	chr18:43913565-43913615	HUVEC	blood vessel:	n/a
43	chr18:43913565-43913615	HCF	heart:	n/a
44	chr18:43913565-43913615	Jurkat	blood:	n/a
45	chr18:43913565-43913615	GM19239	blood:	n/a
46	chr18:43913565-43913615	HL-60	blood:	n/a
47	chr18:43913565-43913615	HEEpiC	esophagus:	n/a
48	chr18:43913565-43913615	HPAEpiC	pulmonary alveolar:	n/a
49	chr18:43913565-43913615	HCPEpiC	choroid plexus:	n/a
50	chr18:43913565-43913615	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43912035..43913739-chr18:43924023..43926965,2	MCF-7	breast:
2	chr18:43751486..43754394-chr18:43913234..43915228,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF165	TF binding region
RNF165	CpG island
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819321	chr18:43909994-43930972	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822108	chr18:43909994-43930972	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1821757	chr18:43910908-43914085	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3442459	chr18:43912979-43915827	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912600-43913800	Flanking Active TSS	Liver	Liver
2	chr18:43912800-43913600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:43912800-43913600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr18:43912800-43913600	Flanking Active TSS	Hela-S3	cervix
5	chr18:43912800-43913800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr18:43912800-43913800	Flanking Active TSS	Dnd41	blood
7	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain
9	chr18:43913000-43913600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr18:43913000-43913600	Flanking Active TSS	Fetal Heart	heart
11	chr18:43913000-43913600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
12	chr18:43913000-43913600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
13	chr18:43913000-43913800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:43913000-43913800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr18:43913000-43913800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr18:43913000-43913800	Flanking Active TSS	Fetal Brain Male	brain
17	chr18:43913000-43913800	Bivalent Enhancer	Placenta	Placenta
18	chr18:43913000-43914000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr18:43913000-43914800	Active TSS	Brain Hippocampus Middle	brain
20	chr18:43913000-43916000	Active TSS	Brain Angular Gyrus	brain
21	chr18:43913000-43918000	Active TSS	Fetal Brain Female	brain
22	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
23	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
25	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr18:43913200-43913600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
29	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr18:43913200-43913600	Bivalent/Poised TSS	A549	lung
31	chr18:43913200-43913600	Flanking Bivalent TSS/Enh	HMEC	breast
32	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:43913200-43913800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
36	chr18:43913200-43913800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr18:43913200-43913800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr18:43913200-43913800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr18:43913200-43913800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
43	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
48	chr18:43913200-43913800	Bivalent Enhancer	Spleen	Spleen
49	chr18:43913200-43914000	Enhancers	Primary B cells from peripheral blood	blood
50	chr18:43913200-43914000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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