Variant report

Variant	esv3351983
Chromosome Location	chr18:12424102-12427600
allele	n/a
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	CTCF	chr18:12423980-12424130	HEK293	kidney:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
2	CTCF	chr18:12423980-12424130	MCF-7	breast:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
3	CTCF	chr18:12423805-12424282	MCF-7	breast:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
4	CTCF	chr18:12423935-12424125	MCF-7	breast:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
5	CTCF	chr18:12423722-12424262	MCF-7	breast:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
6	CTCF	chr18:12423980-12424130	SAEC	small airway:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
7	CTCF	chr18:12423947-12424106	MCF-7	breast:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
8	CTCF	chr18:12423909-12424105	MCF-7	breast:	n/a	chr18:12424026-12424034 chr18:12424021-12424034
9	FOS	chr18:12426939-12427214	MCF10A-Er-Src	breast:	n/a	chr18:12427112-12427119 chr18:12427111-12427120
10	FOS	chr18:12427003-12427204	MCF10A-Er-Src	breast:	n/a	chr18:12427112-12427119 chr18:12427111-12427120
11	FOS	chr18:12426980-12427234	MCF10A-Er-Src	breast:	n/a	chr18:12427112-12427119 chr18:12427111-12427120
12	FOXA1	chr18:12423968-12424249	T-47D	breast:	n/a	chr18:12424193-12424205
13	FOXA2	chr18:12424060-12424285	HepG2	liver:	n/a	chr18:12424193-12424205
14	MAFK	chr18:12424396-12424471	HepG2	liver:	n/a	n/a
15	POLR2A	chr18:12423910-12424108	HepG2	liver:	n/a	n/a
16	POLR2A	chr18:12427313-12427605	HepG2	liver:	n/a	n/a
17	POLR2A	chr18:12423849-12424129	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr18:12425795-12426238	HepG2	liver:	n/a	n/a
19	STAT3	chr18:12427079-12427166	MCF10A-Er-Src	breast:	n/a	chr18:12427111-12427120
20	ZNF263	chr18:12423844-12424214	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12419727..12422689-chr18:12423004..12425928,2	K562	blood:
2	chr18:12427173..12429276-chr18:12453042..12455618,2	K562	blood:
3	chr18:12422115..12425082-chr18:12427051..12428777,2	K562	blood:
4	chr18:12422115..12425082-chr18:12427051..12428777,2	K562	blood:
5	chr18:12423021..12425076-chr18:12425258..12426812,2	K562	blood:
6	chr18:12423760..12426090-chr18:12656515..12659098,3	MCF-7	breast:
7	chr18:12423021..12425076-chr18:12425258..12426812,2	K562	blood:
8	chr18:12396537..12397287-chr18:12423683..12424400,2	MCF-7	breast:
9	chr18:12422525..12425509-chr18:12660961..12663016,2	MCF-7	breast:
10	chr18:12407282..12409335-chr18:12423368..12426046,2	MCF-7	breast:
11	chr18:12395766..12397047-chr18:12422358..12424257,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256786	TF binding region
ENSG00000215527	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000141391	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117147022	chr18:12424112-12424113	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs575083529	chr18:12424113-12424114	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs185555143	chr18:12424125-12424126	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs529176720	chr18:12424206-12424207	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs9945860	chr18:12424217-12424218	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566141411	chr18:12424275-12424276	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs562557273	chr18:12424284-12424285	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs533121944	chr18:12424327-12424328	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs553154090	chr18:12424337-12424338	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs530934692	chr18:12424338-12424339	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs372783306	chr18:12424349-12424350	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs551265784	chr18:12424421-12424422	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs8088106	chr18:12424439-12424440	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534786272	chr18:12424447-12424448	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs146766862	chr18:12424463-12424464	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs568069343	chr18:12424468-12424469	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs535250671	chr18:12424517-12424518	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs535786388	chr18:12424588-12424589	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs538838176	chr18:12424627-12424628	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs12457016	chr18:12424702-12424703	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575826230	chr18:12424706-12424707	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs140384592	chr18:12424748-12424749	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs540055935	chr18:12424762-12424763	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs558372297	chr18:12424766-12424767	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs543439100	chr18:12424828-12424829	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs573019155	chr18:12424870-12424871	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs540282865	chr18:12424871-12424872	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs561674913	chr18:12424973-12424974	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs573546689	chr18:12424998-12424999	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs191448023	chr18:12425011-12425012	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs562830126	chr18:12425096-12425097	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs145506898	chr18:12425125-12425126	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs544845554	chr18:12425127-12425128	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs555026713	chr18:12425129-12425130	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs76509411	chr18:12425130-12425131	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs397858380	chr18:12425140-12425141	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs201017379	chr18:12425141-12425142	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs182010630	chr18:12425237-12425238	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs186993591	chr18:12425314-12425315	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs546650009	chr18:12425341-12425342	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs568380809	chr18:12425345-12425346	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529262098	chr18:12425347-12425348	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs550681695	chr18:12425352-12425353	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs371218008	chr18:12425366-12425367	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs569572198	chr18:12425385-12425386	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs192511624	chr18:12425410-12425411	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs182546860	chr18:12425416-12425417	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs67647610	chr18:12425420-12425421	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs533212555	chr18:12425446-12425447	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs545204172	chr18:12425455-12425456	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
4	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:12420600-12426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:12420600-12426600	Weak transcription	HSMM	muscle
7	chr18:12420600-12426600	Weak transcription	HSMMtube	muscle
8	chr18:12420600-12426600	Weak transcription	HUVEC	blood vessel
9	chr18:12420600-12426600	Weak transcription	NHEK	skin
10	chr18:12420600-12426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:12420600-12427000	Weak transcription	Fetal Lung	lung
12	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
13	chr18:12420600-12427800	Weak transcription	HMEC	breast
14	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
15	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
16	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:12420800-12427000	Weak transcription	Aorta	Aorta
21	chr18:12421000-12427200	Weak transcription	Lung	lung
22	chr18:12421200-12426600	Weak transcription	Ovary	ovary
23	chr18:12421200-12426800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:12421200-12429600	Weak transcription	Gastric	stomach
25	chr18:12421200-12429600	Weak transcription	Spleen	Spleen
26	chr18:12421200-12432400	Weak transcription	Esophagus	oesophagus
27	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
30	chr18:12421400-12426800	Weak transcription	NH-A	brain
31	chr18:12421400-12426800	Weak transcription	Osteobl	bone
32	chr18:12421400-12427000	Weak transcription	Fetal Intestine Large	intestine
33	chr18:12421400-12430800	Weak transcription	Adipose Nuclei	Adipose
34	chr18:12421400-12431200	Weak transcription	Right Ventricle	heart
35	chr18:12421400-12433600	Weak transcription	Placenta	Placenta
36	chr18:12421400-12434600	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr18:12421600-12426600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:12421600-12426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12421600-12426600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:12421600-12426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:12421600-12426600	Weak transcription	Brain Anterior Caudate	brain
43	chr18:12421600-12426600	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:12421600-12426800	Weak transcription	Fetal Kidney	kidney
45	chr18:12421600-12427000	Weak transcription	Brain Substantia Nigra	brain
46	chr18:12421800-12426600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:12421800-12426600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:12421800-12426600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr18:12421800-12426600	Weak transcription	Brain Germinal Matrix	brain
50	chr18:12421800-12427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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