Variant report

Variant	nsv978625
Chromosome Location	chr18:29654097-29659754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:29658270-29658302	K562	blood:	n/a	n/a
2	CTCF	chr18:29657798-29657848	MCF-7	breast:	n/a	n/a
3	POLR2A	chr18:29656613-29656978	H1-neurons	neurons:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29652389..29654185-chr18:29671814..29673548,2	K562	blood:
2	chr18:29657548..29661977-chr18:29669149..29673484,4	K562	blood:
3	chr18:29656745..29659248-chr18:29670363..29672023,2	K562	blood:
4	chr18:29654269..29657288-chr18:29670351..29673351,3	K562	blood:
5	chr18:29651053..29654185-chr18:29670449..29673548,3	K562	blood:
6	chr18:29653056..29654979-chr18:29671460..29672978,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAPPC8-4	chr18:29655848-29656235	NONHSAT058850

No data

Variant related genes	Relation type
ENSG00000214917	TF binding region
ENSG00000134758	chromatin interactions
ENSG00000265008	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs55655705	chr18:29654157-29654158	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563106849	chr18:29654198-29654199	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528951722	chr18:29654217-29654218	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181247349	chr18:29654228-29654229	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116453442	chr18:29654263-29654264	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529493215	chr18:29654270-29654271	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547539460	chr18:29654282-29654283	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566043093	chr18:29654298-29654299	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs533414215	chr18:29654366-29654367	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs115689265	chr18:29654383-29654384	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374381608	chr18:29654431-29654432	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs641228	chr18:29654459-29654460	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569984078	chr18:29654511-29654512	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371255863	chr18:29654530-29654531	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376560741	chr18:29654536-29654537	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370484098	chr18:29654542-29654543	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537443036	chr18:29654568-29654569	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186957044	chr18:29654569-29654570	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567715247	chr18:29654587-29654588	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139551257	chr18:29654598-29654599	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190637890	chr18:29654617-29654618	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs578013752	chr18:29654694-29654695	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545347959	chr18:29654726-29654727	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201836365	chr18:29654749-29654750	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200032901	chr18:29654751-29654752	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200652100	chr18:29654763-29654764	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375475945	chr18:29654780-29654781	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201887277	chr18:29654785-29654786	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575174700	chr18:29654838-29654839	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181462452	chr18:29654863-29654864	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141124243	chr18:29654872-29654873	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546032774	chr18:29654956-29654957	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79913702	chr18:29654981-29654982	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs117930139	chr18:29654998-29654999	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549161825	chr18:29655000-29655001	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55786778	chr18:29655025-29655026	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374689133	chr18:29655031-29655032	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs115865306	chr18:29655033-29655034	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs186478530	chr18:29655044-29655045	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551826502	chr18:29655100-29655101	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564005789	chr18:29655133-29655134	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs76366917	chr18:29655149-29655150	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs77204840	chr18:29655166-29655167	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs76197443	chr18:29655207-29655208	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs535091078	chr18:29655209-29655210	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547091580	chr18:29655226-29655227	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372633144	chr18:29655257-29655258	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145264338	chr18:29655270-29655271	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538820593	chr18:29655284-29655285	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs190917676	chr18:29655308-29655309	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29626000-29657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:29630000-29664400	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:29630400-29664400	Weak transcription	Left Ventricle	heart
6	chr18:29630800-29658600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
8	chr18:29640400-29664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr18:29640400-29664600	Weak transcription	Thymus	Thymus
10	chr18:29640600-29664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr18:29642600-29664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:29644000-29664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:29645600-29655800	Weak transcription	Right Ventricle	heart
14	chr18:29647000-29660200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr18:29647000-29660400	Weak transcription	Fetal Thymus	thymus
16	chr18:29647000-29664400	Weak transcription	Liver	Liver
17	chr18:29648400-29664200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr18:29648400-29664400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:29648600-29664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr18:29648800-29658200	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29649000-29664200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr18:29650000-29654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:29650000-29663000	Weak transcription	Adipose Nuclei	Adipose
24	chr18:29652200-29660400	Weak transcription	Fetal Intestine Small	intestine
25	chr18:29652400-29656800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr18:29652800-29663600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr18:29653000-29654600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr18:29653000-29654600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:29653000-29655800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:29653200-29654400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr18:29653200-29655400	Strong transcription	Primary T cells from cord blood	blood
32	chr18:29653200-29656200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr18:29653200-29656400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:29653400-29654200	Strong transcription	Primary B cells from cord blood	blood
35	chr18:29653400-29654600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr18:29653400-29655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:29653600-29654400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr18:29653600-29654400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr18:29653600-29654600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr18:29654000-29654400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:29654000-29654400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:29654200-29654400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr18:29654200-29664200	Weak transcription	Primary B cells from cord blood	blood
44	chr18:29654400-29660400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr18:29654400-29660400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr18:29654400-29661000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr18:29654400-29663600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:29654400-29664400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:29654400-29664400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:29654600-29662800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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