Variant report

Variant	esv1843958
Chromosome Location	chr9:13631992-13706651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:13686906..13689504-chr9:14312996..14314764,2	MCF-7	breast:
2	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:
3	chr9:13446842..13447486-chr9:13688897..13689613,3	MCF-7	breast:
4	chr6:116274902..116275536-chr9:13688718..13689412,2	MCF-7	breast:
5	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 2964 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2964 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2209267	chr9:13632419-13632420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566664603	chr9:13632420-13632421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534208240	chr9:13632428-13632429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368386823	chr9:13632454-13632455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371921021	chr9:13632458-13632459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554581362	chr9:13632519-13632520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574517620	chr9:13632522-13632523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113843821	chr9:13632560-13632561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553954694	chr9:13632577-13632578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573308766	chr9:13632614-13632615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2224859	chr9:13632616-13632617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565404650	chr9:13632644-13632645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200843177	chr9:13632662-13632663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537707516	chr9:13632663-13632664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575916287	chr9:13632681-13632682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184679134	chr9:13632701-13632702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10961180	chr9:13632737-13632738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530077259	chr9:13632738-13632739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546688605	chr9:13632743-13632744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141971058	chr9:13632759-13632760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532170226	chr9:13632771-13632772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188414940	chr9:13632776-13632777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568983054	chr9:13632794-13632795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538126265	chr9:13632846-13632847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548542501	chr9:13632850-13632851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577162339	chr9:13632860-13632861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538636046	chr9:13632863-13632864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538621732	chr9:13632869-13632870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150690199	chr9:13632919-13632920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191405401	chr9:13632922-13632923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369336880	chr9:13632953-13632954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553862395	chr9:13632962-13632963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576886398	chr9:13632967-13632968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539923851	chr9:13633030-13633031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538829799	chr9:13633032-13633033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183784267	chr9:13633035-13633036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7024432	chr9:13633048-13633049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544495849	chr9:13633073-13633074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7024350	chr9:13633082-13633083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs189306553	chr9:13633121-13633122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540244853	chr9:13633132-13633133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181965598	chr9:13633172-13633173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562309383	chr9:13637048-13637049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs571575228	chr9:13637060-13637061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141556332	chr9:13637065-13637066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527838933	chr9:13637066-13637067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550025695	chr9:13637078-13637079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs530879597	chr9:13637141-13637142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548083858	chr9:13637154-13637155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568046781	chr9:13637167-13637168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13632400-13633000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:13632600-13633200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:13637000-13637200	ZNF genes & repeats	Psoas Muscle	Psoas
4	chr9:13637200-13640800	Weak transcription	Psoas Muscle	Psoas
5	chr9:13637800-13638200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:13640800-13641200	ZNF genes & repeats	Psoas Muscle	Psoas
7	chr9:13641200-13642400	Weak transcription	Psoas Muscle	Psoas
8	chr9:13641800-13646800	Enhancers	Fetal Lung	lung
9	chr9:13643400-13643600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:13643600-13648400	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:13644200-13645000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:13645400-13647000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:13646000-13646800	Enhancers	Rectal Smooth Muscle	rectum
14	chr9:13646200-13647000	Enhancers	NHEK	skin
15	chr9:13646600-13647000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:13646600-13647000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:13646800-13651400	Weak transcription	Fetal Heart	heart
18	chr9:13648400-13649200	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr9:13651200-13651800	Enhancers	Psoas Muscle	Psoas
20	chr9:13651400-13651600	Enhancers	Fetal Heart	heart
21	chr9:13651400-13651600	Enhancers	Right Atrium	heart
22	chr9:13651400-13651800	Enhancers	Left Ventricle	heart
23	chr9:13651400-13652200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr9:13651600-13652000	Flanking Active TSS	Fetal Heart	heart
25	chr9:13651600-13652200	Enhancers	Stomach Smooth Muscle	stomach
26	chr9:13651600-13660800	Weak transcription	Right Atrium	heart
27	chr9:13652000-13652600	Enhancers	Fetal Heart	heart
28	chr9:13652000-13653200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr9:13652600-13653200	Flanking Active TSS	Fetal Heart	heart
30	chr9:13653200-13653800	Active TSS	Fetal Heart	heart
31	chr9:13659200-13659400	Weak transcription	Psoas Muscle	Psoas
32	chr9:13659400-13659600	Enhancers	Psoas Muscle	Psoas
33	chr9:13659600-13661000	Weak transcription	Psoas Muscle	Psoas
34	chr9:13660800-13661000	Active TSS	Adipose Nuclei	Adipose
35	chr9:13660800-13661000	Flanking Active TSS	A549	lung
36	chr9:13660800-13661200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:13660800-13661200	Active TSS	Duodenum Mucosa	Duodenum
38	chr9:13660800-13661200	Active TSS	Left Ventricle	heart
39	chr9:13660800-13661200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr9:13660800-13661200	Enhancers	Rectal Smooth Muscle	rectum
41	chr9:13660800-13661200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr9:13660800-13661200	Active TSS	Hela-S3	cervix
43	chr9:13660800-13661200	Active TSS	NHLF	lung
44	chr9:13660800-13661400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:13660800-13661400	Active TSS	Right Atrium	heart
46	chr9:13660800-13661600	Enhancers	Colon Smooth Muscle	Colon
47	chr9:13661000-13661200	Enhancers	Psoas Muscle	Psoas
48	chr9:13661000-13661200	Active TSS	A549	lung
49	chr9:13661000-13661400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr9:13661000-13661400	Active TSS	Osteobl	bone

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