Variant report

Variant	esv3358729
Chromosome Location	chr9:100942546-100944216
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100943812..100946692-chr9:101037813..101039836,2	K562	blood:
2	chr9:100930925..100932866-chr9:100942560..100944463,2	K562	blood:
3	chr9:100879718..100885853-chr9:100942357..100948328,6	K562	blood:
4	chr9:100817456..100819195-chr9:100941306..100944143,2	K562	blood:
5	chr9:100942818..100944383-chr9:100947690..100949311,2	K562	blood:
6	chr9:100879718..100882500-chr9:100943767..100946053,2	K562	blood:
7	chr9:100943163..100949594-chr9:100950229..100956766,12	K562	blood:
8	chr9:100881221..100884205-chr9:100940045..100942991,2	MCF-7	breast:
9	chr9:100860467..100862654-chr9:100943409..100946106,2	K562	blood:
10	chr9:100943367..100944992-chr9:100952409..100954942,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106789	chromatin interactions
ENSG00000106785	chromatin interactions
ENSG00000095380	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566680087	chr9:100942577-100942578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141324231	chr9:100942630-100942631	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145057850	chr9:100942642-100942643	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546850795	chr9:100942652-100942653	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111592449	chr9:100942666-100942667	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371962738	chr9:100942674-100942675	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536147378	chr9:100942675-100942676	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554896033	chr9:100942680-100942681	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558635076	chr9:100942702-100942703	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575901806	chr9:100942841-100942842	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186978990	chr9:100942849-100942850	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192242150	chr9:100942931-100942932	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535411322	chr9:100942944-100942945	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78514102	chr9:100942977-100942978	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs72757943	chr9:100943003-100943004	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537532789	chr9:100943043-100943044	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557880526	chr9:100943057-100943058	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75264515	chr9:100943074-100943075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533747548	chr9:100943092-100943093	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10985337	chr9:100943201-100943202	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138858108	chr9:100943263-100943264	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs183662102	chr9:100943305-100943306	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs556117440	chr9:100943312-100943313	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs574190208	chr9:100943321-100943322	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs12552786	chr9:100943397-100943398	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576431814	chr9:100943403-100943404	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs72757946	chr9:100943461-100943462	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565391187	chr9:100943463-100943464	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148949980	chr9:100943475-100943476	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs548028767	chr9:100943504-100943505	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201157390	chr9:100943511-100943512	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112155106	chr9:100943514-100943515	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs386736662	chr9:100943515-100943516	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs79466601	chr9:100943517-100943518	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs143675715	chr9:100943575-100943576	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs550533648	chr9:100943577-100943578	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs568755384	chr9:100943611-100943612	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs189057904	chr9:100943614-100943615	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs575456152	chr9:100943617-100943618	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs72757947	chr9:100943639-100943640	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs191166666	chr9:100943648-100943649	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs59101768	chr9:100943686-100943687	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533669179	chr9:100943692-100943693	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs527891555	chr9:100943719-100943720	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs546382443	chr9:100943737-100943738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs78980749	chr9:100943742-100943743	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs9918998	chr9:100943745-100943746	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148078226	chr9:100943747-100943748	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs74528222	chr9:100943821-100943822	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs550627782	chr9:100943834-100943835	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Esophageal cancer	21851588	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
2	chr9:100932800-100951200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:100933400-100951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:100933600-100942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:100933800-100950200	Weak transcription	Colonic Mucosa	Colon
6	chr9:100933800-100951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:100935200-100947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:100935400-100953000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:100935400-100953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:100935400-100953200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:100935800-100944800	Weak transcription	Lung	lung
13	chr9:100936000-100953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:100936000-100953200	Weak transcription	Gastric	stomach
15	chr9:100937000-100948400	Weak transcription	Small Intestine	intestine
16	chr9:100937400-100947000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:100937800-100947400	Weak transcription	NHEK	skin
18	chr9:100937800-100951400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:100937800-100953200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:100938000-100943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:100938000-100943800	Weak transcription	Spleen	Spleen
22	chr9:100938000-100945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:100938000-100949800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:100938000-100952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:100938000-100953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:100938600-100942600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:100939400-100947400	Weak transcription	Thymus	Thymus
28	chr9:100939600-100944600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr9:100939600-100945800	Enhancers	Duodenum Mucosa	Duodenum
30	chr9:100939800-100944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:100939800-100944400	Weak transcription	Stomach Mucosa	stomach
32	chr9:100939800-100944600	Weak transcription	Liver	Liver
33	chr9:100940000-100951400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:100940400-100952400	Genic enhancers	Fetal Intestine Small	intestine
35	chr9:100940600-100947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:100941000-100942800	Enhancers	Fetal Thymus	thymus
37	chr9:100941400-100943400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr9:100941400-100943400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr9:100941600-100942600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr9:100941600-100942800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:100941600-100944800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr9:100941600-100945800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr9:100941800-100942600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr9:100941800-100943000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:100941800-100943000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:100941800-100943000	Enhancers	K562	blood
47	chr9:100941800-100946400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:100941800-100947800	Weak transcription	Esophagus	oesophagus
49	chr9:100941800-100949800	Enhancers	Fetal Intestine Large	intestine
50	chr9:100941800-100954000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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