Variant report

Variant	esv2830198
Chromosome Location	chr9:101477500-101512140
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:101077537..101078267-chr9:101507908..101508672,2	MCF-7	breast:
2	chr9:101447860..101450786-chr9:101503921..101506434,3	MCF-7	breast:
3	chr9:101492037..101494835-chr9:101495591..101497324,2	K562	blood:
4	chr9:101510269..101512280-chr9:101537348..101539564,2	K562	blood:
5	chr9:101476980..101478736-chr9:101484051..101486094,2	MCF-7	breast:
6	chr9:101461339..101463860-chr9:101483058..101485116,2	MCF-7	breast:
7	chr9:101503154..101505229-chr9:101508014..101510177,2	K562	blood:
8	chr9:101485653..101487563-chr9:101495414..101497916,2	K562	blood:
9	chr9:101503154..101505229-chr9:101508014..101510177,2	K562	blood:
10	chr9:101510479..101512974-chr9:101514455..101517851,3	K562	blood:
11	chr9:101490049..101492032-chr9:101495969..101498022,2	MCF-7	breast:
12	chr9:101506100..101507722-chr9:101508946..101511685,2	MCF-7	breast:
13	chr9:101450612..101453356-chr9:101501086..101503936,2	MCF-7	breast:
14	chr9:101470733..101473560-chr9:101475677..101477533,2	K562	blood:
15	chr1:118301097..118301698-chr9:101507278..101507778,2	MCF-7	breast:
16	chr9:101504211..101507100-chr9:101517037..101519199,2	K562	blood:
17	chr9:101479086..101481628-chr9:101485774..101488135,2	K562	blood:
18	chr9:101507905..101508554-chr9:101537916..101538667,2	MCF-7	breast:
19	chr9:101479086..101481628-chr9:101485774..101488135,2	K562	blood:
20	chr9:101453221..101455936-chr9:101497681..101500045,2	MCF-7	breast:
21	chr9:101489013..101491869-chr9:101538125..101541112,2	K562	blood:
22	chr9:101486778..101488794-chr9:101492764..101494651,2	K562	blood:
23	chr9:101506100..101507722-chr9:101508946..101511685,2	MCF-7	breast:
24	chr9:101077916..101078459-chr9:101507514..101508218,2	MCF-7	breast:
25	chr9:101507625..101509587-chr9:101513085..101515010,2	MCF-7	breast:
26	chr9:101474786..101478336-chr9:101481888..101484623,3	K562	blood:
27	chr9:101474786..101478336-chr9:101481888..101484623,3	K562	blood:
28	chr9:101497809..101499341-chr9:101508777..101510382,2	MCF-7	breast:
29	chr9:101482980..101484697-chr9:101493302..101495404,2	K562	blood:
30	chr9:101492037..101494835-chr9:101495591..101497324,2	K562	blood:
31	chr9:101485249..101488278-chr9:101490736..101494651,3	K562	blood:
32	chr9:101504211..101506273-chr9:101517094..101519199,2	K562	blood:
33	chr9:101451350..101454293-chr9:101494298..101496976,2	MCF-7	breast:
34	chr9:101490049..101492032-chr9:101495969..101498022,2	MCF-7	breast:
35	chr9:101498432..101500803-chr9:101503543..101505424,2	K562	blood:
36	chr9:101385915..101390228-chr9:101477879..101481539,3	K562	blood:
37	chr9:101485249..101488278-chr9:101490736..101494651,3	K562	blood:
38	chr9:101511261..101513563-chr9:101514524..101517291,2	K562	blood:
39	chr9:101501349..101503296-chr9:101510438..101513224,2	K562	blood:
40	chr9:101498432..101500803-chr9:101503543..101505424,2	K562	blood:
41	chr9:101490719..101492299-chr9:101497979..101499574,2	K562	blood:
42	chr9:101468753..101471634-chr9:101477598..101479557,2	K562	blood:
43	chr9:101486778..101488794-chr9:101492764..101494651,2	K562	blood:
44	chr9:101483008..101485342-chr9:101550815..101552650,2	K562	blood:
45	chr9:101485653..101487563-chr9:101495414..101497916,2	K562	blood:
46	chr9:101501349..101503296-chr9:101510438..101513224,2	K562	blood:
47	chr9:101482980..101484697-chr9:101493302..101495404,2	K562	blood:
48	chr9:101497809..101499341-chr9:101508777..101510382,2	MCF-7	breast:
49	chr9:101476980..101478736-chr9:101484051..101486094,2	MCF-7	breast:
50	chr9:101490719..101492299-chr9:101497979..101499574,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136928	chromatin interactions
ENSG00000165138	chromatin interactions

Extended variants
information (count: 1205 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1205 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs420158	chr9:101477500-101477501	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75584057	chr9:101477501-101477502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577203833	chr9:101477508-101477509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184583721	chr9:101477524-101477525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1571925	chr9:101477531-101477532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs80149209	chr9:101477599-101477600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78635498	chr9:101477602-101477603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200229209	chr9:101477618-101477619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71326511	chr9:101477627-101477628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548680283	chr9:101477639-101477640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71326512	chr9:101477645-101477646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188603606	chr9:101477674-101477675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539121475	chr9:101477690-101477691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139447665	chr9:101477720-101477721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550891844	chr9:101477756-101477757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181437392	chr9:101477757-101477758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184441244	chr9:101477759-101477760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143914400	chr9:101477776-101477777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546432594	chr9:101477817-101477818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146402922	chr9:101477854-101477855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139745852	chr9:101477855-101477856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565358098	chr9:101477863-101477864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541823138	chr9:101477877-101477878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189267864	chr9:101477938-101477939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564635692	chr9:101477971-101477972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532074368	chr9:101478018-101478019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534286951	chr9:101478098-101478099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144448601	chr9:101478130-101478131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574425288	chr9:101478132-101478133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537295603	chr9:101478167-101478168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557181363	chr9:101478241-101478242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145341362	chr9:101478361-101478362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546143414	chr9:101478438-101478439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs58834774	chr9:101478450-101478451	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573225824	chr9:101478460-101478461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541838159	chr9:101478467-101478468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182302919	chr9:101478476-101478477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113193862	chr9:101478584-101478585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141317149	chr9:101478585-101478586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs58010827	chr9:101478586-101478587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs57644057	chr9:101478600-101478601	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550620358	chr9:101478609-101478610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564342453	chr9:101478630-101478631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533321005	chr9:101478634-101478635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs404680	chr9:101478666-101478667	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149167910	chr9:101478675-101478676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142302481	chr9:101478704-101478705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs151254616	chr9:101478737-101478738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568185939	chr9:101478748-101478749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536754220	chr9:101478820-101478821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101481200-101481400	Enhancers	Liver	Liver
2	chr9:101481400-101482800	Weak transcription	Liver	Liver
3	chr9:101482600-101483400	Enhancers	HepG2	liver
4	chr9:101482800-101483200	Enhancers	Liver	Liver
5	chr9:101483400-101483800	Weak transcription	HepG2	liver
6	chr9:101483800-101484600	Enhancers	HepG2	liver
7	chr9:101486400-101513000	Weak transcription	Right Atrium	heart
8	chr9:101487600-101488000	Bivalent Enhancer	Fetal Stomach	stomach
9	chr9:101487800-101488000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr9:101488000-101489600	Enhancers	Fetal Stomach	stomach
11	chr9:101488000-101490200	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:101488200-101488400	Enhancers	Left Ventricle	heart
13	chr9:101488200-101489000	Enhancers	Primary B cells from cord blood	blood
14	chr9:101488200-101489400	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:101488400-101489600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:101488400-101494000	Weak transcription	Left Ventricle	heart
17	chr9:101488600-101488800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:101488600-101488800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:101488600-101488800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr9:101488600-101489000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:101488600-101489200	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:101488600-101489400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr9:101488600-101489400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:101488600-101489400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr9:101488600-101489600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:101488800-101489000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:101488800-101489000	Enhancers	Brain Germinal Matrix	brain
28	chr9:101488800-101489000	Bivalent Enhancer	Placenta	Placenta
29	chr9:101488800-101489200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:101488800-101489200	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr9:101488800-101489200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr9:101488800-101489200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr9:101488800-101489400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:101488800-101489400	Enhancers	Fetal Brain Female	brain
35	chr9:101488800-101489600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:101488800-101489800	Enhancers	Fetal Brain Male	brain
37	chr9:101489000-101489200	Enhancers	Fetal Thymus	thymus
38	chr9:101489000-101489400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:101489000-101496600	Weak transcription	Primary B cells from cord blood	blood
40	chr9:101489000-101497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:101489000-101498200	Weak transcription	Brain Germinal Matrix	brain
42	chr9:101489200-101489400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:101489200-101490000	Enhancers	Adipose Nuclei	Adipose
44	chr9:101489200-101490000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr9:101489200-101495600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:101489200-101501000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr9:101489400-101489600	Enhancers	Brain Angular Gyrus	brain
48	chr9:101489400-101489600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:101489400-101494200	Weak transcription	Fetal Brain Female	brain
50	chr9:101489400-101496800	Weak transcription	Brain Cingulate Gyrus	brain

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