Variant report

Variant	esv3372565
Chromosome Location	chr18:9813252-9818150
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	ARID3A	chr18:9814213-9814772	HepG2	liver:	n/a	n/a
2	BACH1	chr18:9814507-9814765	K562	blood:	n/a	n/a
3	CEBPB	chr18:9814296-9814828	A549	lung:	n/a	n/a
4	CHD1	chr18:9818072-9818119	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr18:9815812-9815930	MCF-7	breast:	n/a	n/a
6	CTCF	chr18:9817901-9817953	K562	blood:	n/a	chr18:9817915-9817931 chr18:9817909-9817930 chr18:9817914-9817932
7	CTCF	chr18:9817896-9817954	MCF-7	breast:	n/a	chr18:9817915-9817931 chr18:9817909-9817930 chr18:9817914-9817932
8	CTCF	chr18:9817780-9817930	GM12873	blood:	n/a	chr18:9817909-9817930
9	CTCF	chr18:9817904-9817939	MCF-7	breast:	n/a	chr18:9817915-9817931 chr18:9817909-9817930 chr18:9817914-9817932
10	CTCF	chr18:9815315-9815331	MCF-7	breast:	n/a	n/a
11	CTCF	chr18:9817800-9817950	HepG2	liver:	n/a	chr18:9817915-9817931 chr18:9817909-9817930 chr18:9817914-9817932
12	CTCF	chr18:9817892-9817984	MCF-7	breast:	n/a	chr18:9817915-9817931 chr18:9817909-9817930 chr18:9817914-9817932
13	CTCF	chr18:9816005-9816039	MCF-7	breast:	n/a	n/a
14	CTCF	chr18:9817912-9817975	MCF-7	breast:	n/a	chr18:9817915-9817931 chr18:9817914-9817932
15	CTCF	chr18:9815986-9816053	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:9817894-9817913	K562	blood:	n/a	n/a
17	CTCF	chr18:9816029-9816089	GM19239	blood:	n/a	n/a
18	E2F4	chr18:9814477-9814677	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr18:9814245-9814827	T-47D	breast:	n/a	n/a
20	EP300	chr18:9814553-9814699	HepG2	liver:	n/a	n/a
21	EP300	chr18:9814294-9814982	HepG2	liver:	n/a	n/a
22	EP300	chr18:9814359-9814934	A549	lung:	n/a	n/a
23	EP300	chr18:9814299-9814844	A549	lung:	n/a	n/a
24	EP300	chr18:9814434-9814766	HepG2	liver:	n/a	n/a
25	ESR1	chr18:9814344-9814752	T-47D	breast:	n/a	n/a
26	ESR1	chr18:9814366-9814693	T-47D	breast:	n/a	n/a
27	ESR1	chr18:9814384-9814760	T-47D	breast:	n/a	n/a
28	ESR1	chr18:9814397-9814748	T-47D	breast:	n/a	n/a
29	ESR1	chr18:9814394-9814809	T-47D	breast:	n/a	n/a
30	FOS	chr18:9814447-9814796	HUVEC	blood vessel:	n/a	n/a
31	FOS	chr18:9814524-9814776	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr18:9814485-9814792	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr18:9814526-9814752	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr18:9814488-9814760	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr18:9816949-9817154	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr18:9814344-9814868	SK-N-SH	brain:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
37	FOSL2	chr18:9814404-9814855	MCF-7	breast:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
38	FOSL2	chr18:9814489-9814782	HepG2	liver:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
39	FOSL2	chr18:9814465-9814721	A549	lung:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
40	FOSL2	chr18:9814427-9814829	HepG2	liver:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
41	FOSL2	chr18:9814293-9814842	A549	lung:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
42	FOXA1	chr18:9814351-9814812	T-47D	breast:	n/a	chr18:9814602-9814617
43	FOXA1	chr18:9814267-9814872	HepG2	liver:	n/a	chr18:9814602-9814617
44	FOXA1	chr18:9814459-9814841	HepG2	liver:	n/a	chr18:9814602-9814617
45	FOXA1	chr18:9814186-9814875	HepG2	liver:	n/a	chr18:9814602-9814617
46	FOXA1	chr18:9814465-9814774	T-47D	breast:	n/a	chr18:9814602-9814617
47	FOXA1	chr18:9814376-9814730	HepG2	liver:	n/a	chr18:9814602-9814617
48	FOXA2	chr18:9814341-9814816	A549	lung:	n/a	n/a
49	FOXA2	chr18:9814402-9814866	A549	lung:	n/a	n/a
50	FOXA2	chr18:9814409-9814795	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9816186..9818041-chr18:9822656..9824440,2	MCF-7	breast:
2	chr18:9816571..9819172-chr18:9874896..9876976,2	K562	blood:
3	chr18:9816447..9818510-chr18:9822454..9825221,3	K562	blood:
4	chr18:9817153..9818836-chr18:9819356..9821453,2	K562	blood:
5	chr18:9812195..9813835-chr18:9821275..9823784,2	K562	blood:
6	chr18:9811171..9813555-chr18:9814431..9816556,2	K562	blood:
7	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:

Variant related genes	Relation type
RAB31	TF binding region
ENSG00000168461	chromatin interactions
ENSG00000242651	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574665966	chr18:9813265-9813266	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369466691	chr18:9813300-9813301	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542191503	chr18:9813317-9813318	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563234012	chr18:9813323-9813324	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115743453	chr18:9813344-9813345	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183730829	chr18:9813347-9813348	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564188821	chr18:9813361-9813362	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189584702	chr18:9813413-9813414	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373139818	chr18:9813423-9813424	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142856374	chr18:9813503-9813504	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369969166	chr18:9813519-9813520	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116182040	chr18:9813570-9813571	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372479254	chr18:9813574-9813575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550869645	chr18:9813575-9813576	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72959354	chr18:9813577-9813578	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370485431	chr18:9813580-9813581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539468615	chr18:9813584-9813585	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372776433	chr18:9813717-9813718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551511166	chr18:9813718-9813719	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566940543	chr18:9813724-9813725	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534073940	chr18:9813726-9813727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553128993	chr18:9813751-9813752	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574555726	chr18:9813778-9813779	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535714516	chr18:9813812-9813813	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111457171	chr18:9813849-9813850	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557316284	chr18:9813856-9813857	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377735685	chr18:9813857-9813858	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551756672	chr18:9813868-9813869	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575639106	chr18:9813927-9813928	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375715645	chr18:9813969-9813970	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572210652	chr18:9814027-9814028	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181995609	chr18:9814052-9814053	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs545801606	chr18:9814083-9814084	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368827887	chr18:9814126-9814127	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373070007	chr18:9814133-9814134	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562207161	chr18:9814138-9814139	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377584044	chr18:9814148-9814149	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76884085	chr18:9814156-9814157	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560965557	chr18:9814171-9814172	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs16955689	chr18:9814187-9814188	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs28694250	chr18:9814275-9814276	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562265191	chr18:9814284-9814285	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs58682468	chr18:9814339-9814340	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11875218	chr18:9814407-9814408	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148713002	chr18:9814414-9814415	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs80008378	chr18:9814436-9814437	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs187253863	chr18:9814437-9814438	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533477944	chr18:9814472-9814473	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551741956	chr18:9814484-9814485	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374472437	chr18:9814491-9814492	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9805600-9814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr18:9807400-9814000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9809200-9824800	Weak transcription	Lung	lung
13	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
14	chr18:9809400-9815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9809400-9816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:9809400-9816000	Weak transcription	Placenta	Placenta
17	chr18:9809400-9816000	Weak transcription	NHEK	skin
18	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
19	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:9809600-9824400	Weak transcription	HMEC	breast
21	chr18:9810000-9814000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
23	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
24	chr18:9810200-9814000	Weak transcription	HepG2	liver
25	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:9810200-9824000	Weak transcription	Ovary	ovary
27	chr18:9810400-9814000	Weak transcription	A549	lung
28	chr18:9810400-9814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:9810600-9813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:9810600-9813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
32	chr18:9810800-9813600	Weak transcription	Osteobl	bone
33	chr18:9810800-9814000	Weak transcription	NH-A	brain
34	chr18:9810800-9814000	Weak transcription	NHLF	lung
35	chr18:9810800-9814200	Weak transcription	Fetal Kidney	kidney
36	chr18:9810800-9814200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:9810800-9814200	Weak transcription	HUVEC	blood vessel
38	chr18:9810800-9816000	Weak transcription	Adipose Nuclei	Adipose
39	chr18:9810800-9816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
42	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr18:9811000-9813400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:9811000-9814000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:9811000-9815800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:9811000-9815800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:9811000-9816800	Weak transcription	Brain Anterior Caudate	brain
48	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
49	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:9811400-9814000	Weak transcription	HSMM	muscle

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