Variant report

Variant	esv3481984
Chromosome Location	chr9:14686647-14688687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14686674..14691236-chr9:14691548..14694778,7	MCF-7	breast:
2	chr9:14685829..14688724-chr9:14693473..14695940,2	K562	blood:

Variant related genes	Relation type
ENSG00000175893	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961668	chr9:14686659-14686660	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145428329	chr9:14686666-14686667	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558661410	chr9:14686677-14686678	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10961669	chr9:14686694-14686695	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544272840	chr9:14686706-14686707	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141004860	chr9:14686736-14686737	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144644239	chr9:14686737-14686738	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72704961	chr9:14686797-14686798	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530031646	chr9:14686830-14686831	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540567246	chr9:14686885-14686886	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560165457	chr9:14686886-14686887	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113833145	chr9:14686896-14686897	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10756602	chr9:14686927-14686928	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13299425	chr9:14686931-14686932	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs182069793	chr9:14686941-14686942	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531435405	chr9:14686944-14686945	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75293843	chr9:14686978-14686979	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371854194	chr9:14686982-14686983	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201835065	chr9:14686986-14686987	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs397825725	chr9:14686989-14686990	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117672409	chr9:14686999-14687000	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111434029	chr9:14687026-14687027	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79736997	chr9:14687050-14687051	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186702385	chr9:14687058-14687059	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566809121	chr9:14687078-14687079	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192172983	chr9:14687092-14687093	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558748466	chr9:14687134-14687135	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575388436	chr9:14687138-14687139	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184007440	chr9:14687174-14687175	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77758119	chr9:14687175-14687176	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188600991	chr9:14687218-14687219	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77033950	chr9:14687246-14687247	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560501403	chr9:14687253-14687254	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73409711	chr9:14687257-14687258	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546070539	chr9:14687260-14687261	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562683606	chr9:14687269-14687270	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76729549	chr9:14687298-14687299	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548314812	chr9:14687313-14687314	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192983987	chr9:14687343-14687344	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62539798	chr9:14687361-14687362	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547094276	chr9:14687372-14687373	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570087787	chr9:14687379-14687380	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538952014	chr9:14687390-14687391	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs151062940	chr9:14687394-14687395	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140852682	chr9:14687420-14687421	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538032506	chr9:14687422-14687423	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10961670	chr9:14687451-14687452	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574849358	chr9:14687461-14687462	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534267514	chr9:14687478-14687479	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184161527	chr9:14687497-14687498	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634600-14692400	Weak transcription	Gastric	stomach
3	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
4	chr9:14652000-14687000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr9:14653800-14687200	Weak transcription	Left Ventricle	heart
6	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
7	chr9:14655000-14686800	Weak transcription	Psoas Muscle	Psoas
8	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
11	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
12	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:14655400-14691400	Weak transcription	A549	lung
14	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
17	chr9:14655800-14686800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:14655800-14686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:14655800-14687200	Weak transcription	Adipose Nuclei	Adipose
20	chr9:14655800-14692200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:14656000-14692400	Weak transcription	Colonic Mucosa	Colon
22	chr9:14656200-14692400	Weak transcription	Primary T cells from cord blood	blood
23	chr9:14657000-14692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:14658600-14688800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:14659600-14692400	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:14660200-14691000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr9:14663200-14689400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:14663400-14692000	Weak transcription	Brain Substantia Nigra	brain
29	chr9:14668600-14689400	Weak transcription	Fetal Thymus	thymus
30	chr9:14669800-14687200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:14670800-14692200	Weak transcription	NHLF	lung
32	chr9:14671000-14686800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:14671200-14692000	Weak transcription	HepG2	liver
34	chr9:14671400-14686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:14671600-14692200	Weak transcription	NHEK	skin
36	chr9:14671800-14688200	Weak transcription	Esophagus	oesophagus
37	chr9:14672600-14692400	Weak transcription	Small Intestine	intestine
38	chr9:14672800-14689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:14672800-14692200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:14673200-14687000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:14675400-14692400	Weak transcription	Ovary	ovary
42	chr9:14676800-14692200	Weak transcription	Fetal Brain Female	brain
43	chr9:14678000-14686800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:14678400-14690800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:14678800-14692200	Weak transcription	Liver	Liver
46	chr9:14679200-14688800	Weak transcription	Brain Germinal Matrix	brain
47	chr9:14679200-14691000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:14679400-14687000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:14679600-14687200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:14680200-14692200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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