Variant report

Variant	esv3405127
Chromosome Location	chr9:95876656-95879704
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95867099..95869631-chr9:95876073..95877812,2	K562	blood:
2	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
3	chr9:95875785..95878413-chr9:96024427..96026531,2	MCF-7	breast:
4	chr9:95874739..95878921-chr9:95879079..95884047,10	K562	blood:
5	chr9:95869181..95871699-chr9:95878711..95880292,2	MCF-7	breast:
6	chr9:95856945..95860499-chr9:95877670..95883441,5	MCF-7	breast:
7	chr9:95869643..95873929-chr9:95874567..95878954,6	MCF-7	breast:
8	chr9:95874739..95878921-chr9:95879079..95884047,10	K562	blood:
9	chr9:95874371..95880149-chr9:95880216..95885255,14	K562	blood:
10	chr9:95856601..95858475-chr9:95874863..95877124,2	K562	blood:
11	chr9:95875459..95880390-chr9:95892230..95899028,13	K562	blood:
12	chr9:95855552..95862102-chr9:95867626..95876894,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223446	chromatin interactions
ENSG00000165233	chromatin interactions
ENSG00000131669	chromatin interactions
ENSG00000165238	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116783944	chr9:95876676-95876677	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs547725923	chr9:95876682-95876683	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs559630179	chr9:95876709-95876710	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs1539672	chr9:95876775-95876776	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs112304087	chr9:95876785-95876786	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs570017970	chr9:95876786-95876787	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs62573574	chr9:95876788-95876789	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs549686404	chr9:95876828-95876829	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs571464151	chr9:95876829-95876830	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs112964540	chr9:95876860-95876861	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs554064697	chr9:95876865-95876866	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs76519758	chr9:95876869-95876870	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs536222110	chr9:95876872-95876873	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs537669703	chr9:95876878-95876879	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs187270924	chr9:95876919-95876920	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs34608898	chr9:95876965-95876966	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555772098	chr9:95876973-95876974	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs574416066	chr9:95876976-95876977	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs11789113	chr9:95876980-95876981	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs543553018	chr9:95877002-95877003	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs190157246	chr9:95877037-95877038	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs144292253	chr9:95877091-95877092	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs541229680	chr9:95877092-95877093	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs2895245	chr9:95877110-95877111	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375648456	chr9:95877116-95877117	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs7031053	chr9:95877120-95877121	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs563728490	chr9:95877135-95877136	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs545534735	chr9:95877148-95877149	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs530904814	chr9:95877149-95877150	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs552677360	chr9:95877196-95877197	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs570965166	chr9:95877247-95877248	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs564228465	chr9:95877282-95877283	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs547630713	chr9:95877321-95877322	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs565966395	chr9:95877334-95877335	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs536578308	chr9:95877407-95877408	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs146011245	chr9:95877415-95877416	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs72741081	chr9:95877447-95877448	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536658215	chr9:95877448-95877449	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371808021	chr9:95877514-95877515	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs376012940	chr9:95877531-95877532	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs558575319	chr9:95877600-95877601	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs576552838	chr9:95877684-95877685	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs375272953	chr9:95877718-95877719	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs568282922	chr9:95877753-95877754	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs113228923	chr9:95877754-95877755	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs539428902	chr9:95877761-95877762	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs137893792	chr9:95877764-95877765	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs561625739	chr9:95877777-95877778	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs541193166	chr9:95877809-95877810	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs373782438	chr9:95877915-95877916	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 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
Mental retardation	21693067	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95859600-95889400	Weak transcription	Fetal Kidney	kidney
2	chr9:95861800-95882000	Weak transcription	HSMMtube	muscle
3	chr9:95862000-95878400	Weak transcription	Stomach Mucosa	stomach
4	chr9:95862000-95881800	Weak transcription	HUVEC	blood vessel
5	chr9:95862200-95878000	Weak transcription	HSMM	muscle
6	chr9:95862200-95878600	Weak transcription	Psoas Muscle	Psoas
7	chr9:95862200-95878600	Weak transcription	Right Atrium	heart
8	chr9:95866600-95878600	Weak transcription	NHDF-Ad	bronchial
9	chr9:95867000-95878400	Weak transcription	Fetal Lung	lung
10	chr9:95869000-95877600	Strong transcription	Fetal Intestine Small	intestine
11	chr9:95869200-95877600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr9:95869400-95877400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:95869400-95877400	Strong transcription	NHLF	lung
14	chr9:95869600-95877400	Strong transcription	Fetal Stomach	stomach
15	chr9:95869800-95876800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr9:95869800-95877400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:95869800-95877400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:95870000-95895400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:95870200-95877400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:95871000-95894200	Weak transcription	Dnd41	blood
21	chr9:95871200-95878400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:95871200-95878400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:95871200-95878400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:95871600-95877200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr9:95871600-95882000	Weak transcription	GM12878-XiMat	blood
26	chr9:95871800-95876800	Strong transcription	Colon Smooth Muscle	Colon
27	chr9:95872200-95877200	Weak transcription	Hela-S3	cervix
28	chr9:95872200-95881600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr9:95872200-95882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:95872400-95876800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:95872400-95877000	Strong transcription	Fetal Brain Female	brain
32	chr9:95872400-95877200	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr9:95872400-95877200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:95872400-95877400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:95872400-95878400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:95872600-95876800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr9:95872600-95876800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:95872600-95876800	Strong transcription	Colonic Mucosa	Colon
39	chr9:95872600-95876800	Strong transcription	Gastric	stomach
40	chr9:95872600-95877000	Strong transcription	Esophagus	oesophagus
41	chr9:95872600-95877000	Strong transcription	Thymus	Thymus
42	chr9:95872600-95877400	Strong transcription	Aorta	Aorta
43	chr9:95872600-95877600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr9:95872800-95876800	Strong transcription	Lung	lung
45	chr9:95872800-95877000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:95872800-95877400	Strong transcription	Brain Germinal Matrix	brain
47	chr9:95872800-95878000	Enhancers	Primary B cells from cord blood	blood
48	chr9:95873000-95877200	Strong transcription	Brain Hippocampus Middle	brain
49	chr9:95873200-95877800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:95873400-95877200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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