Variant report

Variant	nsv982606
Chromosome Location	chr9:98814728-98823757
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98819421..98821017-chr9:98821751..98824395,2	MCF-7	breast:
2	chr9:98822681..98824476-chr9:98825586..98827527,2	K562	blood:
3	chr9:98636330..98638278-chr9:98823569..98825310,2	K562	blood:
4	chr9:98820092..98822535-chr9:98824625..98827405,2	MCF-7	breast:
5	chr9:98820206..98823128-chr9:98830379..98833221,2	K562	blood:
6	chr18:26822794..26823359-chr9:98823022..98823769,2	MCF-7	breast:
7	chr9:98819421..98821017-chr9:98821751..98824395,2	MCF-7	breast:
8	chr9:98812221..98816024-chr9:98817583..98820363,3	MCF-7	breast:
9	chr9:98814315..98817027-chr9:98823230..98826158,2	MCF-7	breast:
10	chr9:98636264..98639064-chr9:98822222..98824808,3	MCF-7	breast:
11	chr9:98823291..98823799-chr9:98980239..98980879,2	MCF-7	breast:
12	chr9:98814315..98817027-chr9:98823230..98826158,2	MCF-7	breast:
13	chr9:98254155..98254770-chr9:98823287..98824045,2	MCF-7	breast:
14	chr9:98637746..98639419-chr9:98818189..98821163,2	MCF-7	breast:
15	chr9:98812221..98816024-chr9:98817583..98820363,3	MCF-7	breast:
16	chr9:98488810..98489354-chr9:98823597..98824142,2	MCF-7	breast:
17	chr9:98808145..98812472-chr9:98813018..98816202,3	MCF-7	breast:
18	chr22:46512027..46512895-chr9:98823217..98823802,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182150	chromatin interactions
ENSG00000175611	chromatin interactions

Extended variants
information (count: 434 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374814055	chr9:98814749-98814750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536699696	chr9:98814786-98814787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548264660	chr9:98814802-98814803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570360654	chr9:98814814-98814815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77290498	chr9:98814915-98814916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558795234	chr9:98814938-98814939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577025202	chr9:98814984-98814985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537583898	chr9:98814992-98814993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552689837	chr9:98814993-98814994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369818508	chr9:98814999-98815000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561288176	chr9:98815020-98815021	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs528691507	chr9:98815075-98815076	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs537403380	chr9:98815137-98815138	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs1547205	chr9:98815145-98815146	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs1547204	chr9:98815162-98815163	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1547203	chr9:98815165-98815166	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575149004	chr9:98815170-98815171	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs546123487	chr9:98815210-98815211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs564335416	chr9:98815226-98815227	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs528337567	chr9:98815237-98815238	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs546815602	chr9:98815306-98815307	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs559911957	chr9:98815319-98815320	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs530119662	chr9:98815352-98815353	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs535266841	chr9:98815363-98815364	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs184320622	chr9:98815373-98815374	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs74542910	chr9:98815382-98815383	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs189097468	chr9:98815422-98815423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201062678	chr9:98815549-98815550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74553678	chr9:98815607-98815608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7029255	chr9:98815637-98815638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72743928	chr9:98815653-98815654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182326256	chr9:98815697-98815698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142047135	chr9:98815705-98815706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535219003	chr9:98815709-98815710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376409027	chr9:98815722-98815723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575144000	chr9:98815728-98815729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545809537	chr9:98815730-98815731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142587900	chr9:98815751-98815752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564421907	chr9:98815774-98815775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187326598	chr9:98815787-98815788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189313787	chr9:98815810-98815811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111659840	chr9:98815842-98815843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536920362	chr9:98815881-98815882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549276461	chr9:98815903-98815904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529053745	chr9:98815923-98815924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541958877	chr9:98815927-98815928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78526958	chr9:98815974-98815975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79664323	chr9:98815977-98815978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180890702	chr9:98815989-98815990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570837827	chr9:98816044-98816045	Enhancers Weak transcription	n/a	n/a	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
Effusion lymphoma	18079361	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98810200-98823400	Weak transcription	Right Atrium	heart
2	chr9:98810200-98827200	Weak transcription	Aorta	Aorta
3	chr9:98811000-98815400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:98811200-98815600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:98812000-98815000	Weak transcription	Fetal Kidney	kidney
6	chr9:98812200-98829600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:98812400-98818200	Weak transcription	Fetal Stomach	stomach
8	chr9:98812600-98818200	Weak transcription	Esophagus	oesophagus
9	chr9:98812800-98816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:98812800-98818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:98812800-98829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:98813000-98818200	Weak transcription	Gastric	stomach
13	chr9:98813200-98815000	Weak transcription	Fetal Lung	lung
14	chr9:98813400-98815400	Weak transcription	Pancreas	Pancrea
15	chr9:98813400-98818200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:98814200-98815000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:98814600-98815400	Enhancers	Fetal Brain Female	brain
18	chr9:98814600-98815600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:98814800-98815200	Enhancers	Fetal Brain Male	brain
20	chr9:98814800-98815600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:98815000-98815400	Enhancers	Fetal Kidney	kidney
22	chr9:98815000-98815400	Enhancers	Fetal Lung	lung
23	chr9:98815000-98815400	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr9:98815000-98816000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:98815200-98824600	Weak transcription	Fetal Brain Male	brain
26	chr9:98815400-98816000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:98815400-98816200	Enhancers	Pancreas	Pancrea
28	chr9:98815400-98818200	Weak transcription	Fetal Lung	lung
29	chr9:98815400-98823400	Weak transcription	Fetal Kidney	kidney
30	chr9:98815600-98816400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:98815800-98816200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:98816000-98816200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:98816000-98823800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:98818200-98818600	Enhancers	Esophagus	oesophagus
35	chr9:98818200-98818600	Enhancers	HepG2	liver
36	chr9:98818200-98819000	Enhancers	Brain Anterior Caudate	brain
37	chr9:98818200-98819000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:98818200-98819000	Enhancers	Fetal Lung	lung
39	chr9:98818200-98819000	Enhancers	Stomach Mucosa	stomach
40	chr9:98818200-98819600	Enhancers	Fetal Stomach	stomach
41	chr9:98818200-98819800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:98818200-98819800	Enhancers	Gastric	stomach
43	chr9:98818200-98820000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:98818400-98818800	Enhancers	NHDF-Ad	bronchial
45	chr9:98818400-98819000	Enhancers	Brain Hippocampus Middle	brain
46	chr9:98818600-98819000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:98818600-98823400	Weak transcription	Esophagus	oesophagus
48	chr9:98818800-98819200	Weak transcription	NHDF-Ad	bronchial
49	chr9:98819000-98823200	Weak transcription	Brain Hippocampus Middle	brain
50	chr9:98819000-98823200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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