Variant report

Variant	nsv1066486
Chromosome Location	chr18:29553691-29581978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29570336..29572597-chr18:29669436..29671957,2	K562	blood:
2	chr18:29522629..29525199-chr18:29571668..29573171,2	K562	blood:

Variant related genes	Relation type
ENSG00000153339	chromatin interactions
ENSG00000134758	chromatin interactions

Extended variants
information (count: 1121 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1121 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191831150	chr18:29553803-29553804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373432264	chr18:29553821-29553822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567992010	chr18:29553837-29553838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368837977	chr18:29553841-29553842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147604365	chr18:29553871-29553872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551998465	chr18:29553909-29553910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571622769	chr18:29553913-29553914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs8095233	chr18:29553934-29553935	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557472814	chr18:29553936-29553937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569251126	chr18:29553946-29553947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs67481100	chr18:29553948-29553949	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554453443	chr18:29553953-29553954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142290781	chr18:29553973-29553974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs61417715	chr18:29553976-29553977	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151217648	chr18:29554006-29554007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs140958020	chr18:29554022-29554023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs543860026	chr18:29554038-29554039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs562630707	chr18:29554070-29554071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574433304	chr18:29554071-29554072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182926253	chr18:29554072-29554073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs187514305	chr18:29554116-29554117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528799893	chr18:29554173-29554174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547275256	chr18:29554198-29554199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565568697	chr18:29554238-29554239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs150192217	chr18:29554250-29554251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs8095428	chr18:29554255-29554256	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138867549	chr18:29554264-29554265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569659232	chr18:29554288-29554289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573403268	chr18:29554289-29554290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs67734253	chr18:29554306-29554307	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528902031	chr18:29554341-29554342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370596975	chr18:29554359-29554360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141998195	chr18:29554361-29554362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565516772	chr18:29554364-29554365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577375523	chr18:29554376-29554377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77621926	chr18:29554392-29554393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566288501	chr18:29554401-29554402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35914431	chr18:29554403-29554404	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550558071	chr18:29554416-29554417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145810501	chr18:29554422-29554423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567542678	chr18:29554440-29554441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190223220	chr18:29554467-29554468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537880750	chr18:29554469-29554470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555851221	chr18:29554516-29554517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574497971	chr18:29554606-29554607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370770809	chr18:29554657-29554658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113239069	chr18:29554676-29554677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561475759	chr18:29554684-29554685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371395008	chr18:29554704-29554705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4799612	chr18:29554761-29554762	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29553800-29554600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr18:29553800-29555000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29553800-29555000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr18:29555200-29555400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:29556200-29560000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:29557000-29557400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr18:29557000-29558000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr18:29557400-29557600	Enhancers	Adipose Nuclei	Adipose
9	chr18:29557400-29557800	Active TSS	Brain Anterior Caudate	brain
10	chr18:29558800-29559000	ZNF genes & repeats	Right Atrium	heart
11	chr18:29559000-29559600	Weak transcription	Right Atrium	heart
12	chr18:29559600-29559800	Enhancers	Adipose Nuclei	Adipose
13	chr18:29559800-29563400	Weak transcription	Adipose Nuclei	Adipose
14	chr18:29560800-29561000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr18:29560800-29561400	Enhancers	Duodenum Mucosa	Duodenum
16	chr18:29561400-29562800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr18:29561400-29562800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr18:29562600-29563400	Enhancers	Liver	Liver
19	chr18:29562600-29565000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:29562800-29563600	Enhancers	Duodenum Mucosa	Duodenum
21	chr18:29562800-29563600	Enhancers	Fetal Muscle Leg	muscle
22	chr18:29562800-29563800	Enhancers	Fetal Intestine Small	intestine
23	chr18:29562800-29563800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr18:29562800-29563800	Enhancers	HepG2	liver
25	chr18:29562800-29564600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr18:29562800-29565200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr18:29563000-29563400	Enhancers	Lung	lung
28	chr18:29563000-29563600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr18:29563000-29563600	Enhancers	Right Atrium	heart
30	chr18:29563000-29563800	Enhancers	Fetal Intestine Large	intestine
31	chr18:29563000-29565000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr18:29563200-29564000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr18:29563200-29564600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr18:29563200-29564800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:29563200-29565000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr18:29563200-29565000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr18:29563200-29565000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr18:29563200-29565000	Enhancers	Dnd41	blood
39	chr18:29563400-29563800	Enhancers	Adipose Nuclei	Adipose
40	chr18:29563400-29563800	Flanking Active TSS	Liver	Liver
41	chr18:29563400-29564000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr18:29563400-29564600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr18:29563400-29564600	Enhancers	Small Intestine	intestine
44	chr18:29563400-29565000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr18:29563400-29565200	Enhancers	Primary T cells from cord blood	blood
46	chr18:29563400-29565400	Weak transcription	Lung	lung
47	chr18:29563600-29564000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr18:29563600-29565200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr18:29563800-29564600	Enhancers	Liver	Liver
50	chr18:29563800-29567200	Weak transcription	HepG2	liver

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