Variant report

Variant	nsv613668
Chromosome Location	chr9:16310620-16377360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:16309575..16311117-chr9:16313387..16315896,2	MCF-7	breast:
2	chr9:16335793..16338502-chr9:16339081..16341831,2	MCF-7	breast:
3	chr9:16335793..16338502-chr9:16339081..16341831,2	MCF-7	breast:
4	chr9:16336237..16337820-chr9:16344660..16346566,2	MCF-7	breast:
5	chr9:16336237..16337820-chr9:16344660..16346566,2	MCF-7	breast:
6	chr9:16309575..16311117-chr9:16313387..16315896,2	MCF-7	breast:

Extended variants
information (count: 3497 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3497 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7851138	chr9:16310620-16310621	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554577161	chr9:16310626-16310627	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs538647540	chr9:16310645-16310646	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs183987314	chr9:16310696-16310697	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs9407751	chr9:16310723-16310724	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs542842865	chr9:16310725-16310726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs555247082	chr9:16310732-16310733	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs115007616	chr9:16310748-16310749	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs567819734	chr9:16310791-16310792	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs565593690	chr9:16310794-16310795	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs188481692	chr9:16310796-16310797	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs556356225	chr9:16310807-16310808	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs192074257	chr9:16310811-16310812	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs7851177	chr9:16310825-16310826	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144530481	chr9:16310868-16310869	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs548766413	chr9:16310875-16310876	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs553568839	chr9:16310882-16310883	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs559628009	chr9:16310892-16310893	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs112646546	chr9:16310896-16310897	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs117985166	chr9:16310913-16310914	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs369741518	chr9:16310943-16310944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs549632811	chr9:16310958-16310959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs545632392	chr9:16310959-16310960	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs147845722	chr9:16310965-16310966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs538213329	chr9:16310980-16310981	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs565330874	chr9:16310983-16310984	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs531070657	chr9:16310997-16310998	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs575787710	chr9:16311008-16311009	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs373206974	chr9:16311011-16311012	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs553770039	chr9:16311019-16311020	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs565633590	chr9:16311020-16311021	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs536374278	chr9:16311038-16311039	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs555185488	chr9:16311067-16311068	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs117738477	chr9:16311070-16311071	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs141152289	chr9:16311082-16311083	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs559249530	chr9:16311122-16311123	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs567734373	chr9:16311150-16311151	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs530132972	chr9:16311175-16311176	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs372558463	chr9:16311186-16311187	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs577476523	chr9:16311189-16311190	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs376034491	chr9:16311199-16311200	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs576486926	chr9:16311221-16311222	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559746421	chr9:16311238-16311239	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574819251	chr9:16311266-16311267	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541957224	chr9:16311311-16311312	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370357460	chr9:16311320-16311321	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs563461258	chr9:16311336-16311337	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184123550	chr9:16311337-16311338	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549573302	chr9:16311364-16311365	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188573212	chr9:16311394-16311395	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16304200-16310800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:16307000-16311000	Weak transcription	Pancreas	Pancrea
3	chr9:16307600-16311400	Weak transcription	Stomach Mucosa	stomach
4	chr9:16308600-16311000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:16308600-16313400	Enhancers	Ovary	ovary
6	chr9:16308800-16310800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:16308800-16310800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr9:16308800-16318200	Enhancers	Fetal Lung	lung
9	chr9:16309000-16310800	Enhancers	Brain Germinal Matrix	brain
10	chr9:16309000-16311000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:16309000-16311000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr9:16309000-16312400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:16309200-16310800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:16309200-16311000	Enhancers	Right Atrium	heart
15	chr9:16309200-16311400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:16309400-16311200	Enhancers	Adipose Nuclei	Adipose
17	chr9:16309400-16311200	Enhancers	Fetal Intestine Large	intestine
18	chr9:16309400-16311200	Enhancers	Rectal Smooth Muscle	rectum
19	chr9:16309600-16310800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:16309600-16311000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:16309600-16311000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:16309600-16311200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:16309600-16311200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:16309600-16311200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr9:16309600-16311200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:16309800-16310800	Enhancers	Fetal Intestine Small	intestine
27	chr9:16309800-16311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:16310000-16310800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:16310000-16310800	Bivalent Enhancer	Fetal Brain Male	brain
30	chr9:16310000-16311200	Enhancers	Lung	lung
31	chr9:16310000-16311200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr9:16310000-16311400	Enhancers	Fetal Kidney	kidney
33	chr9:16310000-16311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:16310200-16311000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:16310200-16311000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:16310200-16311000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr9:16310200-16311200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:16310200-16311200	Bivalent Enhancer	Fetal Brain Female	brain
39	chr9:16310400-16310800	Bivalent Enhancer	Left Ventricle	heart
40	chr9:16310400-16311200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr9:16310400-16311200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr9:16310400-16311200	Bivalent Enhancer	Placenta	Placenta
43	chr9:16310400-16311200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr9:16310600-16310800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:16310600-16311000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:16310600-16311200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:16310600-16314400	Weak transcription	NHLF	lung
48	chr9:16310600-16317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:16310600-16317400	Weak transcription	Colon Smooth Muscle	Colon
50	chr9:16310800-16311000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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