Variant report

Variant	esv3420060
Chromosome Location	chr9:96380607-96380864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
2	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
3	chr9:96337969..96340007-chr9:96379464..96381194,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534735795	chr9:96380624-96380625	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546584661	chr9:96380626-96380627	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542372890	chr9:96380627-96380628	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371580597	chr9:96380628-96380629	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568065403	chr9:96380637-96380638	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535563167	chr9:96380638-96380639	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149318230	chr9:96380650-96380651	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576179688	chr9:96380652-96380653	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181891258	chr9:96380659-96380660	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13290276	chr9:96380667-96380668	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577201491	chr9:96380672-96380673	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184596207	chr9:96380674-96380675	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13296529	chr9:96380676-96380677	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs574448634	chr9:96380697-96380698	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377363975	chr9:96380707-96380708	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144467670	chr9:96380724-96380725	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531043019	chr9:96380726-96380727	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199841502	chr9:96380761-96380762	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546367280	chr9:96380809-96380810	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564671759	chr9:96380847-96380848	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148273450	chr9:96380849-96380850	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
5	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
8	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
9	chr9:96374600-96399800	Weak transcription	K562	blood
10	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:96375000-96381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:96375000-96382400	Weak transcription	Liver	Liver
13	chr9:96375000-96382600	Weak transcription	Hela-S3	cervix
14	chr9:96375200-96383200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:96375200-96383200	Weak transcription	Stomach Mucosa	stomach
16	chr9:96375200-96383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
18	chr9:96375400-96385800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr9:96375600-96382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:96375600-96383000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:96375600-96383200	Weak transcription	Brain Angular Gyrus	brain
22	chr9:96375600-96383600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:96375600-96383800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:96375600-96390000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:96375800-96383400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:96375800-96386200	Weak transcription	Dnd41	blood
27	chr9:96375800-96390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:96376000-96381000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:96376200-96393000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:96376400-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:96376600-96381400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:96376600-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:96376800-96382000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:96376800-96383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:96377000-96382200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr9:96377000-96382400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr9:96377200-96382200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:96377200-96389200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr9:96377800-96386600	Weak transcription	Fetal Kidney	kidney
40	chr9:96378000-96381400	Weak transcription	Esophagus	oesophagus
41	chr9:96378200-96381000	Weak transcription	Gastric	stomach
42	chr9:96379200-96380800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr9:96379200-96380800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:96379200-96382200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:96379400-96381200	Strong transcription	Fetal Intestine Large	intestine
46	chr9:96379400-96381800	Weak transcription	HepG2	liver
47	chr9:96379400-96382600	Strong transcription	Fetal Intestine Small	intestine
48	chr9:96379400-96385800	Enhancers	Right Atrium	heart
49	chr9:96379600-96380800	Strong transcription	Thymus	Thymus
50	chr9:96379600-96381200	Weak transcription	Brain Inferior Temporal Lobe	brain

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