Variant report

Variant	esv3482280
Chromosome Location	chr9:71671536-71672022
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	chr9:71671307..71672957-chr9:71675793..71678189,2	MCF-7	breast:
2	chr9:71671960..71674521-chr9:71677007..71679466,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561181459	chr9:71671576-71671577	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75076874	chr9:71671629-71671630	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550238385	chr9:71671664-71671665	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368376761	chr9:71671671-71671672	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9775387	chr9:71671711-71671712	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539366889	chr9:71671731-71671732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547745259	chr9:71671736-71671737	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76071744	chr9:71671739-71671740	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536403760	chr9:71671776-71671777	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545018122	chr9:71671803-71671804	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554650785	chr9:71671804-71671805	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575773756	chr9:71671816-71671817	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536734039	chr9:71671821-71671822	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558158588	chr9:71671832-71671833	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573282462	chr9:71671928-71671929	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541336843	chr9:71671992-71671993	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75301658	chr9:71671994-71671995	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71651800-71680600	Weak transcription	HSMMtube	muscle
2	chr9:71652000-71672800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:71652000-71680600	Weak transcription	Brain Angular Gyrus	brain
4	chr9:71652000-71680800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:71659600-71689800	Weak transcription	Colonic Mucosa	Colon
6	chr9:71659800-71683000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:71659800-71683000	Weak transcription	Psoas Muscle	Psoas
8	chr9:71659800-71685200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:71660000-71672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:71660000-71679000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:71660000-71680800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:71660000-71682000	Weak transcription	NHLF	lung
13	chr9:71660000-71684400	Weak transcription	Small Intestine	intestine
14	chr9:71660000-71689400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:71661000-71675600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:71661200-71684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:71662000-71679800	Weak transcription	Fetal Kidney	kidney
18	chr9:71662400-71675400	Weak transcription	Fetal Heart	heart
19	chr9:71662600-71672600	Weak transcription	HSMM	muscle
20	chr9:71662800-71686400	Weak transcription	Fetal Brain Female	brain
21	chr9:71664000-71674600	Weak transcription	HUVEC	blood vessel
22	chr9:71664000-71675400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:71664000-71675600	Weak transcription	Brain Substantia Nigra	brain
24	chr9:71664000-71675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:71664000-71682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:71664200-71672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr9:71664200-71672600	Weak transcription	NHEK	skin
28	chr9:71664200-71675600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:71664200-71679400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:71664200-71680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:71664200-71681400	Weak transcription	Right Ventricle	heart
32	chr9:71664200-71691200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr9:71664400-71672200	Weak transcription	Brain Anterior Caudate	brain
34	chr9:71664400-71672400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:71664400-71675200	Weak transcription	Pancreas	Pancrea
36	chr9:71664400-71675600	Weak transcription	Lung	lung
37	chr9:71664400-71675600	Weak transcription	Spleen	Spleen
38	chr9:71664400-71675800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:71664400-71675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:71664400-71675800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr9:71664400-71678800	Weak transcription	Aorta	Aorta
42	chr9:71664400-71680400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:71664400-71680600	Weak transcription	A549	lung
44	chr9:71664400-71680800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr9:71664400-71680800	Weak transcription	Esophagus	oesophagus
46	chr9:71664400-71681400	Weak transcription	Gastric	stomach
47	chr9:71664400-71693600	Weak transcription	HMEC	breast
48	chr9:71664600-71680400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:71665000-71672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:71665000-71675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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