Variant report

Variant	esv3341550
Chromosome Location	chr9:116248681-116250679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116240264..116245059-chr9:116245363..116250466,7	MCF-7	breast:
2	chr9:116245555..116247785-chr9:116248959..116250962,2	MCF-7	breast:
3	chr9:116237263..116240200-chr9:116248821..116251142,2	MCF-7	breast:
4	chr9:116224453..116228370-chr9:116248983..116252816,4	MCF-7	breast:
5	chr9:116244673..116249213-chr9:116254294..116256965,4	K562	blood:

Variant related genes	Relation type
ENSG00000138835	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558971923	chr9:116248681-116248682	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564763957	chr9:116248720-116248721	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529969429	chr9:116248730-116248731	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550146557	chr9:116248767-116248768	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150441007	chr9:116248771-116248772	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375908780	chr9:116248798-116248799	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569860323	chr9:116248831-116248832	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59318988	chr9:116248854-116248855	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538873861	chr9:116248863-116248864	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372495002	chr9:116248867-116248868	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550501648	chr9:116248868-116248869	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567218345	chr9:116248877-116248878	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111428824	chr9:116248918-116248919	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
14	rs112348193	chr9:116248930-116248931	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
15	rs146008305	chr9:116248971-116248972	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538384497	chr9:116248995-116248996	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558606532	chr9:116249061-116249062	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569514235	chr9:116249081-116249082	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138824445	chr9:116249092-116249093	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555156976	chr9:116249116-116249117	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79261692	chr9:116249198-116249199	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540884322	chr9:116249228-116249229	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553897532	chr9:116249256-116249257	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370511211	chr9:116249275-116249276	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185774613	chr9:116249299-116249300	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200029431	chr9:116249304-116249305	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543745478	chr9:116249305-116249306	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577144555	chr9:116249341-116249342	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201148417	chr9:116249380-116249381	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60523804	chr9:116249402-116249403	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546013184	chr9:116249478-116249479	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373632868	chr9:116249516-116249517	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562631533	chr9:116249517-116249518	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530662850	chr9:116249537-116249538	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376198829	chr9:116249613-116249614	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555461747	chr9:116249635-116249636	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373883154	chr9:116249637-116249638	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544004600	chr9:116249671-116249672	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560708048	chr9:116249673-116249674	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555525060	chr9:116249676-116249677	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529966758	chr9:116249680-116249681	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546850869	chr9:116249686-116249687	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566380630	chr9:116249714-116249715	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112821728	chr9:116249773-116249774	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574506484	chr9:116249819-116249820	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573924767	chr9:116249850-116249851	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76336871	chr9:116249904-116249905	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs80333699	chr9:116249964-116249965	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188244184	chr9:116249976-116249977	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534250024	chr9:116250067-116250068	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
2	chr9:116231600-116249800	Weak transcription	Hela-S3	cervix
3	chr9:116235000-116251200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:116236200-116252400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:116239200-116250200	Weak transcription	Psoas Muscle	Psoas
6	chr9:116240400-116254600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:116241200-116252800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:116241800-116248800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:116241800-116252200	Strong transcription	Fetal Intestine Small	intestine
10	chr9:116242000-116254200	Weak transcription	Brain Germinal Matrix	brain
11	chr9:116242000-116254200	Weak transcription	Fetal Thymus	thymus
12	chr9:116242000-116255200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:116242000-116263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:116242600-116254200	Weak transcription	Fetal Brain Female	brain
16	chr9:116244000-116249600	Weak transcription	Liver	Liver
17	chr9:116245000-116248800	Enhancers	Colon Smooth Muscle	Colon
18	chr9:116245000-116249000	Strong transcription	Fetal Intestine Large	intestine
19	chr9:116245800-116248800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:116245800-116248800	Enhancers	Right Ventricle	heart
21	chr9:116245800-116248800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr9:116246400-116250400	Weak transcription	Lung	lung
23	chr9:116246600-116248800	Enhancers	NH-A	brain
24	chr9:116246600-116248800	Enhancers	Osteobl	bone
25	chr9:116246600-116250600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:116246600-116254400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:116246800-116251800	Strong transcription	HepG2	liver
28	chr9:116246800-116254800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:116247000-116253600	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:116247000-116254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:116247000-116254800	Weak transcription	Stomach Mucosa	stomach
32	chr9:116247200-116248800	Enhancers	NHDF-Ad	bronchial
33	chr9:116247200-116254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:116247400-116248800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr9:116247600-116248800	Enhancers	Ovary	ovary
36	chr9:116247600-116249200	Strong transcription	A549	lung
37	chr9:116247800-116248800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:116247800-116248800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:116247800-116249000	Enhancers	Left Ventricle	heart
40	chr9:116248000-116248800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr9:116248000-116248800	Enhancers	Rectal Smooth Muscle	rectum
42	chr9:116248000-116249000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:116248000-116249000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:116248000-116249000	Enhancers	Right Atrium	heart
45	chr9:116248000-116250400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr9:116248000-116251400	Strong transcription	Fetal Stomach	stomach
47	chr9:116248200-116250400	Weak transcription	HSMMtube	muscle
48	chr9:116248200-116250600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:116248200-116250600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:116248200-116250800	Weak transcription	Placenta	Placenta

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