Variant report

Variant	nsv1021605
Chromosome Location	chr9:18002205-18271109
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:18255224..18255738-chr9:19028566..19029077,2	K562	blood:
2	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:
3	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
4	chr9:18254973..18255762-chr9:19028514..19029097,2	MCF-7	breast:
5	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:
6	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
7	chr9:18254776..18255758-chr9:18790832..18791755,3	MCF-7	breast:
8	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
9	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
10	chr9:18255104..18255666-chr9:18823787..18824360,2	MCF-7	breast:
11	chr1:121482984..121485223-chr9:18152239..18154322,2	MCF-7	breast:
12	chr1:200018379..200019256-chr9:18037438..18038367,2	MCF-7	breast:
13	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
14	chr9:17531412..17532247-chr9:18212958..18213842,2	MCF-7	breast:
15	chr9:18254805..18255425-chr9:18442379..18443060,2	MCF-7	breast:
16	chr9:18254620..18255832-chr9:18825877..18827696,5	MCF-7	breast:
17	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:
18	chr9:17528534..17529118-chr9:18207797..18208372,2	MCF-7	breast:
19	chr9:18254775..18255482-chr9:18823832..18824683,3	MCF-7	breast:
20	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
21	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
22	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178031	chromatin interactions

Extended variants
information (count: 11007 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:11007 , 50 per page) page: 1 2 3 4 5 6 7 ... 221

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10963391	chr9:18002205-18002206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543046867	chr9:18002214-18002215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561120486	chr9:18002217-18002218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531683020	chr9:18002252-18002253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375262441	chr9:18002290-18002291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373060368	chr9:18002298-18002299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78062505	chr9:18002322-18002323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547562055	chr9:18002342-18002343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566067812	chr9:18002344-18002345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369415880	chr9:18002425-18002426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376304894	chr9:18002428-18002429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548216400	chr9:18002440-18002441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569554238	chr9:18002455-18002456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61414288	chr9:18002499-18002500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186525550	chr9:18002515-18002516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570536557	chr9:18002523-18002524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534843299	chr9:18002573-18002574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545866194	chr9:18002587-18002588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191792552	chr9:18002605-18002606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16936201	chr9:18002627-18002628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541758658	chr9:18002662-18002663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557176578	chr9:18002688-18002689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576374673	chr9:18002703-18002704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543383096	chr9:18002733-18002734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369062746	chr9:18002745-18002746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147334598	chr9:18002772-18002773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140895569	chr9:18002776-18002777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541269534	chr9:18002811-18002812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559690123	chr9:18002858-18002859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144869624	chr9:18002868-18002869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182993388	chr9:18002880-18002881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186163306	chr9:18002935-18002936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76654409	chr9:18002974-18002975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190773438	chr9:18003007-18003008	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79531040	chr9:18003008-18003009	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16936202	chr9:18003022-18003023	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545757553	chr9:18003045-18003046	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183341329	chr9:18003112-18003113	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535600873	chr9:18003113-18003114	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556996614	chr9:18003142-18003143	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575473370	chr9:18003172-18003173	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72697446	chr9:18003175-18003176	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187724463	chr9:18003198-18003199	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558519581	chr9:18003271-18003272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560304325	chr9:18003313-18003314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113871119	chr9:18003330-18003331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73643487	chr9:18003364-18003365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114883304	chr9:18003380-18003381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542383918	chr9:18003400-18003401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs16936203	chr9:18003419-18003420	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17988200-18004400	Weak transcription	Aorta	Aorta
2	chr9:17995200-18003400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr9:18001800-18003800	Enhancers	Fetal Intestine Large	intestine
4	chr9:18002000-18003000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:18002000-18003600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:18002000-18012000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:18002200-18003000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:18002400-18003000	Enhancers	Liver	Liver
9	chr9:18002400-18003600	Enhancers	Fetal Intestine Small	intestine
10	chr9:18002800-18003600	Enhancers	Gastric	stomach
11	chr9:18003000-18003200	Flanking Active TSS	Liver	Liver
12	chr9:18003000-18003400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr9:18003000-18003800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr9:18003200-18003400	Enhancers	Liver	Liver
15	chr9:18003400-18003600	Flanking Active TSS	Liver	Liver
16	chr9:18003600-18003800	Enhancers	Duodenum Mucosa	Duodenum
17	chr9:18003600-18004600	Enhancers	Liver	Liver
18	chr9:18003800-18004200	Weak transcription	Fetal Intestine Large	intestine
19	chr9:18004200-18004600	Enhancers	Fetal Intestine Large	intestine
20	chr9:18004400-18004600	ZNF genes & repeats	Aorta	Aorta
21	chr9:18004400-18004600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr9:18004600-18018600	Weak transcription	Aorta	Aorta
23	chr9:18005600-18005800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:18007400-18007800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr9:18009400-18014600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:18011800-18012000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr9:18012000-18018200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:18014600-18016400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:18014800-18015400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:18015000-18015600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:18015000-18015600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:18016400-18022000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:18018200-18018600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr9:18018400-18019200	Enhancers	Liver	Liver
35	chr9:18018600-18018800	ZNF genes & repeats	Aorta	Aorta
36	chr9:18018600-18019000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr9:18018600-18019200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:18018800-18022000	Weak transcription	Aorta	Aorta
39	chr9:18019000-18021000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:18019200-18019800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:18019200-18022000	Weak transcription	Liver	Liver
42	chr9:18019800-18020000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:18021000-18021200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr9:18021400-18023000	Enhancers	Fetal Lung	lung
45	chr9:18021800-18022400	Enhancers	Fetal Stomach	stomach
46	chr9:18022000-18022400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:18022000-18022400	Enhancers	Aorta	Aorta
48	chr9:18022000-18023400	Enhancers	Liver	Liver
49	chr9:18022400-18022600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr9:18022400-18031600	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links