Variant report

Variant	esv3382311
Chromosome Location	chr9:100768690-100769002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100767752..100769741-chr9:100788658..100791290,2	K562	blood:
2	chr9:100683248..100685910-chr9:100768133..100772099,3	K562	blood:
3	chr9:100765048..100766771-chr9:100766811..100769374,2	MCF-7	breast:
4	chr9:100751400..100754135-chr9:100768209..100771208,2	MCF-7	breast:
5	chr9:100763380..100766123-chr9:100768484..100771216,3	MCF-7	breast:
6	chr9:100749544..100751362-chr9:100767596..100769424,2	MCF-7	breast:
7	chr9:100683071..100688537-chr9:100768820..100773976,7	K562	blood:

Variant related genes	Relation type
ENSG00000236896	chromatin interactions
ENSG00000136932	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544478462	chr9:100768699-100768700	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557793257	chr9:100768704-100768705	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs578048233	chr9:100768706-100768707	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540643218	chr9:100768729-100768730	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs56326117	chr9:100768746-100768747	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78879007	chr9:100768747-100768748	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397741345	chr9:100768748-100768749	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201039261	chr9:100768749-100768750	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10283632	chr9:100768760-100768761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs529410073	chr9:100768772-100768773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs187638436	chr9:100768790-100768791	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563087474	chr9:100768806-100768807	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531839780	chr9:100768821-100768822	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192514795	chr9:100768840-100768841	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs138891127	chr9:100768879-100768880	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551381290	chr9:100768892-100768893	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149388615	chr9:100768903-100768904	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147480087	chr9:100768938-100768939	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546194942	chr9:100768986-100768987	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 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
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
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100752000-100784000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:100753000-100769000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:100754600-100784200	Strong transcription	Dnd41	blood
4	chr9:100754600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:100755200-100782200	Strong transcription	HepG2	liver
6	chr9:100755200-100783800	Strong transcription	NHEK	skin
7	chr9:100755400-100783000	Weak transcription	Stomach Mucosa	stomach
8	chr9:100755600-100769200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:100755600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:100755800-100782200	Strong transcription	K562	blood
11	chr9:100756000-100777800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:100756400-100772600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:100756400-100783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:100756400-100783800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr9:100756400-100784400	Strong transcription	Fetal Thymus	thymus
16	chr9:100756600-100785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:100756800-100771600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:100756800-100771800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:100756800-100781200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:100756800-100783000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:100756800-100783400	Strong transcription	HMEC	breast
22	chr9:100757000-100769400	Strong transcription	HUVEC	blood vessel
23	chr9:100757000-100771000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:100757000-100771600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:100757000-100771600	Strong transcription	HSMM	muscle
26	chr9:100757000-100771800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr9:100757000-100772200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr9:100757000-100772600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr9:100757000-100781000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr9:100757000-100785200	Strong transcription	Placenta	Placenta
31	chr9:100757200-100783600	Strong transcription	Liver	Liver
32	chr9:100757400-100770800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:100757400-100784000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:100757600-100772600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr9:100757600-100784400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr9:100757800-100772400	Strong transcription	Primary B cells from cord blood	blood
37	chr9:100757800-100782200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:100758400-100780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr9:100759600-100771000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr9:100760000-100769400	Strong transcription	A549	lung
41	chr9:100760400-100772400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:100760600-100770200	Weak transcription	Psoas Muscle	Psoas
43	chr9:100760800-100783600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr9:100761400-100770800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:100761600-100772000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:100761600-100772800	Strong transcription	Fetal Intestine Large	intestine
47	chr9:100761600-100772800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr9:100761800-100784400	Strong transcription	Thymus	Thymus
49	chr9:100762000-100770800	Strong transcription	Lung	lung
50	chr9:100762600-100785400	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links