Variant report

Variant	nsv892863
Chromosome Location	chr9:27138898-27170934
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	chr9:27033573..27034169-chr9:27165385..27166023,2	MCF-7	breast:

Extended variants
information (count: 1419 )
Associated
traits (count: 132 )

Variant overlapped rSNPs/rCNVs (count:1419 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11789885	chr9:27138898-27138899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368627200	chr9:27138924-27138925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11793907	chr9:27138926-27138927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7040772	chr9:27138929-27138930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553034819	chr9:27138935-27138936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572184495	chr9:27138973-27138974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7043905	chr9:27139023-27139024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563622154	chr9:27139024-27139025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71510420	chr9:27139031-27139032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542612724	chr9:27139089-27139090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7027720	chr9:27139100-27139101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377599077	chr9:27139108-27139109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558416517	chr9:27139119-27139120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111781577	chr9:27139127-27139128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528090371	chr9:27139128-27139129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534381191	chr9:27139142-27139143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571736036	chr9:27139143-27139144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532950831	chr9:27139159-27139160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551588033	chr9:27139160-27139161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552554633	chr9:27139168-27139169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537383485	chr9:27139197-27139198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368484784	chr9:27139211-27139212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200836450	chr9:27139224-27139225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2027124	chr9:27139252-27139253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140043101	chr9:27139293-27139294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116203998	chr9:27139308-27139309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113669788	chr9:27139346-27139347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188028128	chr9:27139352-27139353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191164221	chr9:27139390-27139391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545247614	chr9:27139401-27139402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371422024	chr9:27139405-27139406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557176778	chr9:27139411-27139412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575525114	chr9:27139445-27139446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561252010	chr9:27139447-27139448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528449614	chr9:27139483-27139484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7467336	chr9:27139484-27139485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs62544598	chr9:27139485-27139486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564459981	chr9:27139512-27139513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13293515	chr9:27139555-27139556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551599310	chr9:27139565-27139566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563432200	chr9:27139575-27139576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150457939	chr9:27139587-27139588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71492734	chr9:27139600-27139601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11790417	chr9:27139640-27139641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs13292708	chr9:27139649-27139650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534305219	chr9:27139704-27139705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546600449	chr9:27139710-27139711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528681211	chr9:27139731-27139732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538769356	chr9:27139733-27139734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551728189	chr9:27139786-27139787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:132)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	20668451	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27122800-27150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:27127200-27142400	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:27129800-27144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:27130200-27141200	Weak transcription	HUVEC	blood vessel
5	chr9:27131400-27143000	Weak transcription	Left Ventricle	heart
6	chr9:27133200-27142400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:27134000-27145200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:27138400-27144400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:27141200-27142400	Enhancers	HUVEC	blood vessel
10	chr9:27142000-27142200	Enhancers	Colon Smooth Muscle	Colon
11	chr9:27142200-27144400	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:27142400-27142600	Enhancers	Fetal Muscle Leg	muscle
13	chr9:27142400-27142800	Flanking Active TSS	HUVEC	blood vessel
14	chr9:27142400-27143200	Enhancers	Right Atrium	heart
15	chr9:27142400-27143400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:27142600-27143200	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:27142800-27144000	Enhancers	HUVEC	blood vessel
18	chr9:27143000-27143400	Enhancers	Spleen	Spleen
19	chr9:27143000-27144000	Enhancers	Left Ventricle	heart
20	chr9:27143000-27144000	Enhancers	Lung	lung
21	chr9:27143200-27143800	Enhancers	Fetal Lung	lung
22	chr9:27143200-27145400	Enhancers	Fetal Muscle Leg	muscle
23	chr9:27143200-27150000	Weak transcription	Right Atrium	heart
24	chr9:27143400-27145000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:27143400-27145200	Weak transcription	Spleen	Spleen
26	chr9:27143800-27150200	Weak transcription	Fetal Lung	lung
27	chr9:27144000-27144400	Weak transcription	HUVEC	blood vessel
28	chr9:27144000-27145000	Weak transcription	Left Ventricle	heart
29	chr9:27144000-27149800	Weak transcription	Lung	lung
30	chr9:27144400-27145000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr9:27144400-27145400	Enhancers	Colon Smooth Muscle	Colon
32	chr9:27144400-27145600	Enhancers	HUVEC	blood vessel
33	chr9:27144400-27145800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:27144600-27145400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:27144600-27145400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr9:27144800-27145200	Enhancers	Fetal Stomach	stomach
37	chr9:27144800-27145400	Enhancers	Rectal Smooth Muscle	rectum
38	chr9:27144800-27145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:27144800-27145600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:27145000-27145400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr9:27145000-27145400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:27145000-27145400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:27145000-27145400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:27145000-27145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:27145000-27145400	Enhancers	Left Ventricle	heart
46	chr9:27145000-27145600	Enhancers	Adipose Nuclei	Adipose
47	chr9:27145000-27149600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:27145200-27145400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:27145200-27145400	Enhancers	Spleen	Spleen
50	chr9:27145200-27145600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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