Variant report

Variant	nsv909478
Chromosome Location	chr18:25392569-25478085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25428285..25431235-chr18:25432716..25435281,2	MCF-7	breast:
2	18:25465234-25466367..18:25739208-25741005	GM12878	blood:
3	chr18:25423651..25425891-chr18:25426260..25429048,2	K562	blood:
4	chr18:25403860..25406496-chr18:25413422..25415444,2	MCF-7	breast:
5	chr18:25423651..25425891-chr18:25426260..25429048,2	K562	blood:
6	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:
7	chr18:25428285..25431235-chr18:25432716..25435281,2	MCF-7	breast:
8	18:25475931-25479150..18:25752943-25759013	H1-hESC	embryonic stem cell:	embryo
9	chr18:25403860..25406496-chr18:25413422..25415444,2	MCF-7	breast:
10	chr18:25422536..25423200-chr5:10132913..10133723,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170558	chromatin interactions

Extended variants
information (count: 2095 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2095 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577431904	chr18:25394070-25394071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7232892	chr18:25394114-25394115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556668792	chr18:25394124-25394125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374618142	chr18:25394131-25394132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542746157	chr18:25394132-25394133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76361955	chr18:25394170-25394171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560959010	chr18:25394171-25394172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181675625	chr18:25394187-25394188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540202699	chr18:25394199-25394200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565201835	chr18:25394257-25394258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532391809	chr18:25394258-25394259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186810491	chr18:25394259-25394260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562745196	chr18:25394261-25394262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558896153	chr18:25394273-25394274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529846271	chr18:25394321-25394322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190630465	chr18:25394396-25394397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376362376	chr18:25394417-25394418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114006077	chr18:25394451-25394452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552124564	chr18:25394515-25394516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571059594	chr18:25394529-25394530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16944221	chr18:25394569-25394570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556567900	chr18:25394573-25394574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575021152	chr18:25394583-25394584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369639127	chr18:25400004-25400005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557274382	chr18:25400005-25400006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184998983	chr18:25400015-25400016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542962577	chr18:25400042-25400043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151086644	chr18:25400051-25400052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573137668	chr18:25400089-25400090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142496916	chr18:25400135-25400136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559205973	chr18:25400160-25400161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188925287	chr18:25400165-25400166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146556512	chr18:25400187-25400188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563335113	chr18:25400207-25400208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8083529	chr18:25400211-25400212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549325940	chr18:25400217-25400218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181575351	chr18:25400242-25400243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545691451	chr18:25400245-25400246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200577232	chr18:25400338-25400339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5823564	chr18:25400339-25400340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545536331	chr18:25400340-25400341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77068304	chr18:25400352-25400353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71171647	chr18:25400354-25400355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1962371	chr18:25400397-25400398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557619940	chr18:25400401-25400402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561148576	chr18:25400423-25400424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114256637	chr18:25400468-25400469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59965784	chr18:25400505-25400506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571651976	chr18:25400516-25400517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539165792	chr18:25400547-25400548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25394000-25394600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:25400000-25401400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:25402800-25403600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:25402800-25403600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr18:25402800-25403800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:25402800-25405000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:25403000-25403600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:25403000-25403600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:25403200-25403400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr18:25403200-25403600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:25403200-25403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:25403200-25403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:25403400-25404800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:25403600-25404800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:25403600-25404800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:25403600-25405000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr18:25403600-25405200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:25403800-25404800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:25403800-25405200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr18:25404800-25406200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:25404800-25406400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr18:25404800-25406400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr18:25404800-25406800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:25404800-25406800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr18:25404800-25407000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr18:25405000-25405800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:25405000-25406000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr18:25405000-25406000	Enhancers	Brain Germinal Matrix	brain
29	chr18:25405000-25406200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr18:25405000-25407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:25405200-25405600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:25405200-25405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:25405200-25405800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr18:25405200-25406400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:25405200-25407200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:25405400-25406000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr18:25405400-25406000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr18:25405800-25407000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:25407000-25410000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:25407200-25412400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:25410000-25410200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:25410200-25412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:25411600-25412400	Enhancers	Brain Germinal Matrix	brain
44	chr18:25412000-25412200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr18:25412000-25412800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:25412200-25421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:25412800-25418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:25415000-25415400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr18:25415400-25418600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr18:25417800-25420000	Enhancers	NHEK	skin

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