Variant report

Variant	esv3377423
Chromosome Location	chr18:9814502-9817300
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	CTCF	chr18:9816005-9816039	MCF-7	breast:	n/a	n/a
5	CTCF	chr18:9815986-9816053	MCF-7	breast:	n/a	n/a
6	CTCF	chr18:9815812-9815930	MCF-7	breast:	n/a	n/a
7	CTCF	chr18:9815315-9815331	MCF-7	breast:	n/a	n/a
8	CTCF	chr18:9816029-9816089	GM19239	blood:	n/a	n/a
9	E2F4	chr18:9814477-9814677	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr18:9814359-9814934	A549	lung:	n/a	n/a
11	EP300	chr18:9814294-9814982	HepG2	liver:	n/a	n/a
12	EP300	chr18:9814245-9814827	T-47D	breast:	n/a	n/a
13	EP300	chr18:9814299-9814844	A549	lung:	n/a	n/a
14	EP300	chr18:9814434-9814766	HepG2	liver:	n/a	n/a
15	EP300	chr18:9814553-9814699	HepG2	liver:	n/a	n/a
16	ESR1	chr18:9814344-9814752	T-47D	breast:	n/a	n/a
17	ESR1	chr18:9814397-9814748	T-47D	breast:	n/a	n/a
18	ESR1	chr18:9814394-9814809	T-47D	breast:	n/a	n/a
19	ESR1	chr18:9814384-9814760	T-47D	breast:	n/a	n/a
20	ESR1	chr18:9814366-9814693	T-47D	breast:	n/a	n/a
21	FOS	chr18:9814526-9814752	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr18:9814485-9814792	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr18:9814524-9814776	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr18:9814488-9814760	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr18:9816949-9817154	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr18:9814447-9814796	HUVEC	blood vessel:	n/a	n/a
27	FOSL2	chr18:9814293-9814842	A549	lung:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
28	FOSL2	chr18:9814489-9814782	HepG2	liver:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
29	FOSL2	chr18:9814404-9814855	MCF-7	breast:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
30	FOSL2	chr18:9814465-9814721	A549	lung:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
31	FOSL2	chr18:9814344-9814868	SK-N-SH	brain:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
32	FOSL2	chr18:9814427-9814829	HepG2	liver:	n/a	chr18:9814637-9814648 chr18:9814606-9814617
33	FOXA1	chr18:9814186-9814875	HepG2	liver:	n/a	chr18:9814602-9814617
34	FOXA1	chr18:9814465-9814774	T-47D	breast:	n/a	chr18:9814602-9814617
35	FOXA1	chr18:9814459-9814841	HepG2	liver:	n/a	chr18:9814602-9814617
36	FOXA1	chr18:9814267-9814872	HepG2	liver:	n/a	chr18:9814602-9814617
37	FOXA1	chr18:9814351-9814812	T-47D	breast:	n/a	chr18:9814602-9814617
38	FOXA1	chr18:9814376-9814730	HepG2	liver:	n/a	chr18:9814602-9814617
39	FOXA2	chr18:9814341-9814816	A549	lung:	n/a	n/a
40	FOXA2	chr18:9814402-9814866	A549	lung:	n/a	n/a
41	FOXA2	chr18:9814216-9814883	HepG2	liver:	n/a	n/a
42	FOXA2	chr18:9814409-9814795	HepG2	liver:	n/a	n/a
43	GATA3	chr18:9814402-9814774	T-47D	breast:	n/a	n/a
44	GATA3	chr18:9814254-9814886	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr18:9814132-9814794	MCF-7	breast:	n/a	n/a
46	GATA3	chr18:9814524-9814810	A549	lung:	n/a	n/a
47	GATA3	chr18:9814241-9815011	A549	lung:	n/a	n/a
48	GATA3	chr18:9814356-9814827	T-47D	breast:	n/a	n/a
49	GATA3	chr18:9814394-9814848	MCF-7	breast:	n/a	n/a
50	JUN	chr18:9814432-9814778	HepG2	liver:	n/a	n/a

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

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

Extended variants
information (count: 113 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191606379	chr18:9814506-9814507	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566798669	chr18:9814536-9814537	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534252769	chr18:9814540-9814541	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77030572	chr18:9814541-9814542	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181605832	chr18:9814545-9814546	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77830342	chr18:9814574-9814575	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557228661	chr18:9814598-9814599	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs16955693	chr18:9814639-9814640	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562028407	chr18:9814650-9814651	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539400719	chr18:9814662-9814663	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557692870	chr18:9814709-9814710	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186521609	chr18:9814775-9814776	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs8082842	chr18:9814778-9814779	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs77106741	chr18:9814795-9814796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73385100	chr18:9814850-9814851	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527920427	chr18:9814938-9814939	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560105453	chr18:9814972-9814973	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs16955694	chr18:9814986-9814987	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533442862	chr18:9815029-9815030	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs386801069	chr18:9815053-9815054	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57521478	chr18:9815054-9815055	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59718720	chr18:9815066-9815067	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142287289	chr18:9815068-9815069	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377399469	chr18:9815071-9815072	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs202167579	chr18:9815073-9815074	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535258916	chr18:9815090-9815091	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs16955697	chr18:9815099-9815100	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550794962	chr18:9815136-9815137	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376887395	chr18:9815140-9815141	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs3207745	chr18:9815146-9815147	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370221124	chr18:9815148-9815149	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373817974	chr18:9815187-9815188	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569078407	chr18:9815188-9815189	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201678468	chr18:9815201-9815202	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200750727	chr18:9815224-9815225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539681812	chr18:9815239-9815240	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371754904	chr18:9815246-9815247	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150896904	chr18:9815252-9815253	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140206092	chr18:9815264-9815265	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145509697	chr18:9815277-9815278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371901789	chr18:9815287-9815288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113759835	chr18:9815296-9815297	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375240772	chr18:9815322-9815323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369779130	chr18:9815347-9815348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372149675	chr18:9815352-9815353	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578117331	chr18:9815357-9815358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35015847	chr18:9815382-9815383	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545655167	chr18:9815437-9815438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376772625	chr18:9815454-9815455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60701040	chr18:9815457-9815458	Weak transcription Strong transcription	Chromatin interactive region	1 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:139 , 50 per page) page: 1 2 3

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	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:9809200-9824800	Weak transcription	Lung	lung
12	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
13	chr18:9809400-9815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:9809400-9816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:9809400-9816000	Weak transcription	Placenta	Placenta
16	chr18:9809400-9816000	Weak transcription	NHEK	skin
17	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
18	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:9809600-9824400	Weak transcription	HMEC	breast
20	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
21	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
22	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:9810200-9824000	Weak transcription	Ovary	ovary
24	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
25	chr18:9810800-9816000	Weak transcription	Adipose Nuclei	Adipose
26	chr18:9810800-9816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr18:9811000-9815800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:9811000-9815800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr18:9811000-9816800	Weak transcription	Brain Anterior Caudate	brain
33	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr18:9811400-9815000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr18:9811400-9817000	Weak transcription	Left Ventricle	heart
37	chr18:9811400-9817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
39	chr18:9811600-9816200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:9811800-9816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:9812200-9817400	Weak transcription	Psoas Muscle	Psoas
42	chr18:9812400-9815000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:9812400-9817200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:9812400-9817600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr18:9813000-9815200	Enhancers	NHDF-Ad	bronchial
48	chr18:9813000-9817400	Weak transcription	Fetal Muscle Leg	muscle
49	chr18:9813000-9819600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr18:9813000-9819800	Strong transcription	Monocytes-CD14+_RO01746	blood

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