Variant report

Variant	nsv437176
Chromosome Location	chr18:13058494-13068132
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	chr18:13061640-13061790	BE2_C	brain:	n/a	n/a
2	CTCF	chr18:13061860-13062010	NB4	blood:	n/a	n/a
3	CUX1	chr18:13060151-13060231	K562	blood:	n/a	n/a
4	ELK1	chr18:13067314-13067370	GM12878	blood:	n/a	n/a
5	FOXA2	chr18:13063661-13063849	HepG2	liver:	n/a	n/a
6	JUN	chr18:13067884-13068465	K562	blood:	n/a	n/a
7	MAFK	chr18:13067609-13067856	HepG2	liver:	n/a	chr18:13067722-13067733 chr18:13067721-13067736 chr18:13067726-13067735
8	MAFK	chr18:13067673-13067817	HepG2	liver:	n/a	chr18:13067722-13067733 chr18:13067721-13067736 chr18:13067726-13067735
9	MAFK	chr18:13067593-13067849	IMR90	lung:	n/a	chr18:13067722-13067733 chr18:13067721-13067736 chr18:13067726-13067735
10	MAZ	chr18:13067277-13067377	GM12878	blood:	n/a	n/a
11	MXI1	chr18:13067296-13067383	GM12878	blood:	n/a	n/a
12	NFYA	chr18:13059602-13059851	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr18:13058664-13058697	MCF-7	breast:	n/a	n/a
14	POLR2A	chr18:13062000-13062191	K562	blood:	n/a	n/a
15	POLR2A	chr18:13058399-13058586	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr18:13066991-13067864	K562	blood:	n/a	n/a
17	POLR2A	chr18:13058663-13058666	K562	blood:	n/a	n/a
18	POLR2A	chr18:13062875-13063115	K562	blood:	n/a	n/a
19	POLR2A	chr18:13064467-13064617	K562	blood:	n/a	n/a
20	POLR2A	chr18:13058676-13059443	K562	blood:	n/a	n/a
21	POLR2A	chr18:13065759-13066201	K562	blood:	n/a	n/a
22	POLR2A	chr18:13060212-13060656	K562	blood:	n/a	n/a
23	POLR2A	chr18:13060125-13060325	MCF10A-Er-Src	breast:	n/a	n/a
24	POU2F2	chr18:13067187-13067430	GM12891	blood:	n/a	n/a
25	RUNX3	chr18:13067165-13067463	GM12878	blood:	n/a	n/a
26	RUNX3	chr18:13067129-13067516	GM12878	blood:	n/a	n/a
27	SPI1	chr18:13067302-13067427	GM12878	blood:	n/a	n/a
28	SPI1	chr18:13067170-13067551	GM12891	blood:	n/a	n/a
29	SPI1	chr18:13067173-13067474	GM12891	blood:	n/a	n/a
30	SPI1	chr18:13067116-13067564	HL-60	blood:	n/a	n/a
31	SPI1	chr18:13067156-13067460	GM12878	blood:	n/a	n/a
32	TBL1XR1	chr18:13067242-13067381	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12701153..12703264-chr18:13056468..13058902,2	K562	blood:

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000128789	chromatin interactions
ENSG00000101624	chromatin interactions

Extended variants
information (count: 382 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs472702	chr18:13058494-13058495	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145325307	chr18:13058502-13058503	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs189584524	chr18:13058545-13058546	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373838717	chr18:13058554-13058555	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs114802285	chr18:13058578-13058579	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs567952026	chr18:13058600-13058601	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569885888	chr18:13058610-13058611	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs78187468	chr18:13058615-13058616	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142632443	chr18:13058682-13058683	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs375985894	chr18:13058708-13058709	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs144860683	chr18:13058716-13058717	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs180878203	chr18:13058731-13058732	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs147924827	chr18:13058747-13058748	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs572875068	chr18:13058777-13058778	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540369906	chr18:13058798-13058799	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs561751931	chr18:13058814-13058815	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs115910345	chr18:13058836-13058837	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs140537422	chr18:13058863-13058864	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs75501514	chr18:13058869-13058870	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs531069658	chr18:13058884-13058885	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs552545089	chr18:13058892-13058893	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs67084247	chr18:13058921-13058922	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528456183	chr18:13058942-13058943	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs546721356	chr18:13058969-13058970	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs150116158	chr18:13059018-13059019	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs75021251	chr18:13059033-13059034	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550463610	chr18:13059056-13059057	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371449452	chr18:13059074-13059075	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78272374	chr18:13059077-13059078	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539400709	chr18:13059095-13059096	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200272635	chr18:13059100-13059101	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567691134	chr18:13059103-13059104	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs572909875	chr18:13059126-13059127	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs372656454	chr18:13059138-13059139	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533749491	chr18:13059140-13059141	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376350625	chr18:13059141-13059142	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs115165883	chr18:13059173-13059174	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147843429	chr18:13059175-13059176	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371350748	chr18:13059176-13059177	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs35165903	chr18:13059203-13059204	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573622366	chr18:13059222-13059223	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542416869	chr18:13059227-13059228	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563683890	chr18:13059245-13059246	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140747935	chr18:13059264-13059265	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140719133	chr18:13059269-13059270	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375744180	chr18:13059281-13059282	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144576875	chr18:13059287-13059288	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138416749	chr18:13059293-13059294	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200309332	chr18:13059294-13059295	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs501499	chr18:13059320-13059321	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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	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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:13043200-13058600	Weak transcription	Fetal Heart	heart
5	chr18:13043200-13077800	Strong transcription	Dnd41	blood
6	chr18:13045400-13063800	Strong transcription	Fetal Thymus	thymus
7	chr18:13045600-13062400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:13045600-13063200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:13045800-13062400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:13045800-13063800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr18:13046000-13060600	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr18:13046000-13062200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:13046000-13062200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:13046000-13062200	Strong transcription	Thymus	Thymus
15	chr18:13046000-13062400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:13046000-13062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:13046000-13062400	Strong transcription	Fetal Intestine Large	intestine
18	chr18:13046000-13062400	Strong transcription	Fetal Muscle Leg	muscle
19	chr18:13046000-13062400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:13046000-13063400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr18:13046000-13078600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:13046800-13062400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr18:13047200-13062200	Strong transcription	Liver	Liver
26	chr18:13048000-13058800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr18:13048600-13060600	Strong transcription	Hela-S3	cervix
29	chr18:13048600-13062000	Strong transcription	NHDF-Ad	bronchial
30	chr18:13048600-13062200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:13049000-13070400	Weak transcription	Psoas Muscle	Psoas
32	chr18:13049600-13059000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:13049600-13061600	Strong transcription	Fetal Stomach	stomach
34	chr18:13049800-13062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:13049800-13068000	Weak transcription	Small Intestine	intestine
36	chr18:13050600-13062600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:13050800-13060400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr18:13050800-13061400	Strong transcription	Fetal Intestine Small	intestine
39	chr18:13050800-13062400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:13050800-13064800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:13050800-13070800	Weak transcription	Right Atrium	heart
42	chr18:13051200-13062400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr18:13051600-13063200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr18:13051800-13060800	Strong transcription	HepG2	liver
45	chr18:13051800-13062600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr18:13051800-13063200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:13052000-13064200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr18:13052200-13059000	Strong transcription	Fetal Brain Female	brain
49	chr18:13052200-13059400	Strong transcription	Pancreas	Pancrea
50	chr18:13052200-13062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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