Variant report

Variant	esv2761989
Chromosome Location	chr18:9834599-9837639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:9836820-9836970	WI-38	lung:	n/a	n/a
2	CTCF	chr18:9835800-9835950	HCPEpiC	choroid plexus:	n/a	n/a
3	CUX1	chr18:9835702-9835713	K562	blood:	n/a	n/a
4	E2F4	chr18:9835443-9835524	MCF10A-Er-Src	breast:	n/a	chr18:9835494-9835503
5	EP300	chr18:9835154-9836275	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr18:9835373-9835692	ECC-1	luminal epithelium:	n/a	n/a
7	FOXA1	chr18:9834885-9835098	T-47D	breast:	n/a	n/a
8	FOXA1	chr18:9835108-9835383	T-47D	breast:	n/a	n/a
9	FOXA1	chr18:9834814-9835201	T-47D	breast:	n/a	n/a
10	FOXP2	chr18:9835846-9836143	SK-N-MC	brain:	n/a	n/a
11	GATA3	chr18:9835050-9835692	T-47D	breast:	n/a	n/a
12	GTF2F1	chr18:9835440-9835503	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr18:9835369-9835720	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr18:9835218-9836111	ECC-1	luminal epithelium:	n/a	n/a
15	MAZ	chr18:9835223-9835248	HepG2	liver:	n/a	n/a
16	MYC	chr18:9835594-9835596	MCF10A-Er-Src	breast:	n/a	n/a
17	NFIC	chr18:9835201-9835902	ECC-1	luminal epithelium:	n/a	n/a
18	NR3C1	chr18:9835460-9835663	ECC-1	luminal epithelium:	n/a	n/a
19	NR3C1	chr18:9835422-9835714	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr18:9835390-9835814	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr18:9835420-9836291	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr18:9835854-9836238	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr18:9836795-9836836	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr18:9836861-9836951	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr18:9834720-9834840	GM12878	blood:	n/a	n/a
26	POLR2A	chr18:9836839-9836842	H1-hESC	embryonic stem cell:	n/a	n/a
27	RFX5	chr18:9834838-9834855	K562	blood:	n/a	n/a
28	SP1	chr18:9835135-9835797	H1-hESC	embryonic stem cell:	n/a	n/a
29	SP1	chr18:9835206-9835804	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT3	chr18:9836253-9836389	MCF10A-Er-Src	breast:	n/a	n/a
31	TCF12	chr18:9835173-9835914	ECC-1	luminal epithelium:	n/a	n/a
32	TCF12	chr18:9835273-9835730	ECC-1	luminal epithelium:	n/a	n/a
33	TCF12	chr18:9835252-9835631	H1-hESC	embryonic stem cell:	n/a	n/a
34	TEAD4	chr18:9835233-9836259	ECC-1	luminal epithelium:	n/a	n/a
35	TEAD4	chr18:9835313-9835768	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr18:9835224-9835749	ECC-1	luminal epithelium:	n/a	n/a
37	USF2	chr18:9836770-9836817	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZKSCAN1	chr18:9834931-9835053	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr18:9836095-9836116	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9835907..9837430-chr18:9925064..9927802,2	K562	blood:
2	chr18:9835743..9838576-chr18:9911593..9914261,2	MCF-7	breast:
3	chr18:9833804..9836149-chr18:9912449..9915567,3	K562	blood:
4	chr18:9831165..9832828-chr18:9833796..9836130,2	MCF-7	breast:
5	chr18:9835909..9838532-chr18:9841261..9843750,2	MCF-7	breast:
6	chr18:9825919..9829366-chr18:9837136..9840599,3	K562	blood:
7	chr18:9836686..9839180-chr18:9928720..9931249,2	K562	blood:
8	chr18:9835315..9836905-chr18:9908815..9911185,2	K562	blood:
9	chr18:9837439..9839782-chr18:9846585..9850459,4	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL862P	TF binding region
ENSG00000101558	chromatin interactions
ENSG00000272799	chromatin interactions
ENSG00000168461	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs1476847	chr18:9834599-9834600	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576245524	chr18:9834608-9834609	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs115991118	chr18:9834643-9834644	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564247725	chr18:9834696-9834697	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186726480	chr18:9834719-9834720	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189573772	chr18:9834721-9834722	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs58545675	chr18:9834752-9834753	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183269230	chr18:9834754-9834755	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs529174769	chr18:9834765-9834766	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs188579307	chr18:9834787-9834788	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141134114	chr18:9834799-9834800	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs60246007	chr18:9834950-9834951	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs58835348	chr18:9834951-9834952	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs150721763	chr18:9834960-9834961	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs551041288	chr18:9835004-9835005	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs545122736	chr18:9835024-9835025	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532569768	chr18:9835040-9835041	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs193198360	chr18:9835077-9835078	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555731359	chr18:9835091-9835092	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs567904028	chr18:9835122-9835123	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs538550977	chr18:9835123-9835124	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373876056	chr18:9835154-9835155	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs556565115	chr18:9835161-9835162	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs578087846	chr18:9835196-9835197	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545450245	chr18:9835204-9835205	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs116063794	chr18:9835246-9835247	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564929160	chr18:9835247-9835248	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs139719773	chr18:9835259-9835260	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs185143351	chr18:9835261-9835262	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs559824371	chr18:9835291-9835292	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs561742266	chr18:9835295-9835296	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138097190	chr18:9835303-9835304	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs573846144	chr18:9835320-9835321	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188411109	chr18:9835322-9835323	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs143728581	chr18:9835323-9835324	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs115739149	chr18:9835328-9835329	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs147230053	chr18:9835329-9835330	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs540943414	chr18:9835334-9835335	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs191711354	chr18:9835349-9835350	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs560577031	chr18:9835368-9835369	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs115635913	chr18:9835378-9835379	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs76820168	chr18:9835384-9835385	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs538515046	chr18:9835400-9835401	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs550476229	chr18:9835406-9835407	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs11872226	chr18:9835419-9835420	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs539029195	chr18:9835480-9835481	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs553881431	chr18:9835537-9835538	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs569500029	chr18:9835548-9835549	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs572461248	chr18:9835587-9835588	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs536361557	chr18:9835602-9835603	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 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:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:9825400-9849800	Weak transcription	Gastric	stomach
4	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
5	chr18:9826000-9835200	Weak transcription	Brain Anterior Caudate	brain
6	chr18:9827800-9837800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr18:9828400-9835600	Weak transcription	Fetal Heart	heart
8	chr18:9828400-9838400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr18:9828400-9846000	Weak transcription	Pancreas	Pancrea
10	chr18:9828600-9835000	Weak transcription	Fetal Lung	lung
11	chr18:9828600-9838000	Weak transcription	HSMMtube	muscle
12	chr18:9829000-9838000	Weak transcription	HSMM	muscle
13	chr18:9829000-9841600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:9829000-9845200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:9829000-9848200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:9829400-9838000	Weak transcription	NH-A	brain
17	chr18:9829600-9835000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr18:9829600-9838800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:9829600-9846600	Weak transcription	NHDF-Ad	bronchial
20	chr18:9829800-9834600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr18:9829800-9834800	Weak transcription	NHEK	skin
22	chr18:9829800-9835200	Weak transcription	HMEC	breast
23	chr18:9830400-9839400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:9831200-9847200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr18:9831400-9835600	Strong transcription	Hela-S3	cervix
26	chr18:9831600-9835000	Weak transcription	K562	blood
27	chr18:9831600-9852400	Weak transcription	A549	lung
28	chr18:9831800-9836200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr18:9831800-9845200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:9832000-9836600	Weak transcription	Left Ventricle	heart
31	chr18:9832000-9838000	Weak transcription	Aorta	Aorta
32	chr18:9832200-9835000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:9832200-9835000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:9832200-9835400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr18:9832200-9835400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:9832200-9836600	Weak transcription	Right Atrium	heart
37	chr18:9832400-9835400	Weak transcription	Brain Hippocampus Middle	brain
38	chr18:9832400-9846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:9832600-9835000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:9832600-9835000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:9832600-9835200	Weak transcription	Right Ventricle	heart
42	chr18:9832600-9835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:9832800-9834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:9832800-9834800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr18:9832800-9836600	Weak transcription	Lung	lung
46	chr18:9832800-9837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:9832800-9845000	Weak transcription	Osteobl	bone
48	chr18:9832800-9865000	Weak transcription	Spleen	Spleen
49	chr18:9833000-9834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:9833000-9835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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