Variant report

Variant	esv3422585
Chromosome Location	chr9:100846431-100849383
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100849256..100851636-chr9:100854662..100858526,4	MCF-7	breast:
2	chr9:100841190..100843013-chr9:100847159..100849959,2	K562	blood:
3	chr9:100842650..100845592-chr9:100845952..100848847,2	MCF-7	breast:
4	chr9:100843832..100846656-chr9:100852067..100855805,4	K562	blood:
5	chr9:100836770..100838393-chr9:100846222..100848303,2	K562	blood:
6	chr9:100845870..100848174-chr9:100911791..100914448,2	K562	blood:
7	chr9:100845133..100849564-chr9:100852067..100857931,7	K562	blood:
8	chr9:86592886..86593562-chr9:100847536..100848405,2	MCF-7	breast:
9	chr9:100843269..100846185-chr9:100848032..100850204,2	K562	blood:
10	chr9:100838071..100839825-chr9:100848704..100850871,2	K562	blood:
11	chr9:100838525..100840109-chr9:100844644..100847387,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106785	chromatin interactions
ENSG00000165119	chromatin interactions
ENSG00000095380	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182908385	chr9:100846470-100846471	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs386736657	chr9:100846475-100846476	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35072666	chr9:100846530-100846531	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546594586	chr9:100846540-100846541	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186155030	chr9:100846544-100846545	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571389774	chr9:100846547-100846548	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142488114	chr9:100846572-100846573	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190964936	chr9:100846577-100846578	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113140491	chr9:100846697-100846698	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182521654	chr9:100846711-100846712	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575727411	chr9:100846736-100846737	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538468237	chr9:100846828-100846829	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369027739	chr9:100846833-100846834	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10984975	chr9:100846877-100846878	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs578198332	chr9:100846887-100846888	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532365883	chr9:100846896-100846897	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559381105	chr9:100846897-100846898	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572922065	chr9:100846920-100846921	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139821310	chr9:100846926-100846927	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371671934	chr9:100846934-100846935	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187988224	chr9:100846935-100846936	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545901187	chr9:100846948-100846949	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112444021	chr9:100846952-100846953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2417728	chr9:100847012-100847013	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142039903	chr9:100847022-100847023	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150905862	chr9:100847044-100847045	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs2181583	chr9:100847109-100847110	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139435416	chr9:100847129-100847130	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114322111	chr9:100847268-100847269	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11551335	chr9:100847277-100847278	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192701630	chr9:100847280-100847281	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569350990	chr9:100847281-100847282	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75070722	chr9:100847296-100847297	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10984977	chr9:100847297-100847298	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376810456	chr9:100847302-100847303	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571908301	chr9:100847304-100847305	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183433214	chr9:100847314-100847315	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370405711	chr9:100847331-100847332	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572858466	chr9:100847354-100847355	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542617282	chr9:100847410-100847411	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554704134	chr9:100847445-100847446	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541860258	chr9:100847476-100847477	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150057422	chr9:100847491-100847492	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544445782	chr9:100847498-100847499	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs3780471	chr9:100847551-100847552	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs544038541	chr9:100847557-100847558	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs374631073	chr9:100847563-100847564	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs529575894	chr9:100847579-100847580	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs147726624	chr9:100847602-100847603	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs142508753	chr9:100847669-100847670	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 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:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100819600-100848400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:100820000-100847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:100820000-100849600	Weak transcription	Fetal Brain Male	brain
4	chr9:100820000-100850000	Weak transcription	Fetal Kidney	kidney
5	chr9:100821200-100849600	Weak transcription	Right Atrium	heart
6	chr9:100838200-100852800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:100838600-100848400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:100838600-100852000	Strong transcription	GM12878-XiMat	blood
9	chr9:100839000-100848400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:100839000-100849600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:100839000-100849800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr9:100839200-100847400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:100839400-100847600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:100839400-100847800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr9:100839400-100848600	Strong transcription	Fetal Stomach	stomach
16	chr9:100839400-100850400	Strong transcription	Dnd41	blood
17	chr9:100839400-100861800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:100839600-100849400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:100839600-100850600	Strong transcription	Thymus	Thymus
20	chr9:100839800-100847400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:100840000-100846600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:100840000-100846800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:100840000-100847000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr9:100840000-100847800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:100841600-100848200	Strong transcription	Primary T cells from cord blood	blood
26	chr9:100842000-100847600	Strong transcription	Left Ventricle	heart
27	chr9:100842400-100846800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr9:100842400-100849800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:100842600-100848400	Strong transcription	Fetal Thymus	thymus
30	chr9:100842800-100847600	Strong transcription	Primary B cells from cord blood	blood
31	chr9:100842800-100850200	Weak transcription	Fetal Heart	heart
32	chr9:100843200-100847400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:100843400-100847400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:100843600-100847000	Genic enhancers	Fetal Intestine Large	intestine
35	chr9:100843800-100847400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:100843800-100847400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr9:100843800-100849800	Weak transcription	Ovary	ovary
38	chr9:100843800-100849800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:100844000-100846600	Weak transcription	Brain Anterior Caudate	brain
40	chr9:100844000-100846800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:100844000-100847400	Strong transcription	Gastric	stomach
42	chr9:100844000-100847600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:100844000-100849600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:100844000-100849800	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:100844000-100850000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:100844200-100847800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr9:100844200-100847800	Strong transcription	Esophagus	oesophagus
48	chr9:100844200-100847800	Strong transcription	HMEC	breast
49	chr9:100844200-100847800	Strong transcription	NHEK	skin
50	chr9:100844400-100847000	Strong transcription	HUVEC	blood vessel

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