Variant report

Variant	esv3404137
Chromosome Location	chr9:116252531-116254179
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	chr9:116252798..116255081-chr9:116267283..116269003,2	K562	blood:
2	chr9:116224453..116228370-chr9:116248983..116252816,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112538522	chr9:116252548-116252549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368993152	chr9:116252570-116252571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76728250	chr9:116252580-116252581	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35378490	chr9:116252606-116252607	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541723726	chr9:116252613-116252614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148932247	chr9:116252643-116252644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142826178	chr9:116252644-116252645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541162059	chr9:116252684-116252685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35353378	chr9:116252714-116252715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558212722	chr9:116252737-116252738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182191384	chr9:116252774-116252775	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543619642	chr9:116252791-116252792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs151030100	chr9:116252838-116252839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563654005	chr9:116252876-116252877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35382220	chr9:116252900-116252901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142480889	chr9:116252913-116252914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185677279	chr9:116253001-116253002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564085913	chr9:116253023-116253024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190392207	chr9:116253040-116253041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs57907385	chr9:116253048-116253049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186680042	chr9:116253059-116253060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551895777	chr9:116253126-116253127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191097412	chr9:116253193-116253194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577501306	chr9:116253257-116253258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370368580	chr9:116253280-116253281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183678449	chr9:116253289-116253290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189064188	chr9:116253293-116253294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199778518	chr9:116253332-116253333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569839348	chr9:116253376-116253377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552849570	chr9:116253445-116253446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559566386	chr9:116253481-116253482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535769122	chr9:116253494-116253495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12338221	chr9:116253529-116253530	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192894358	chr9:116253611-116253612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184476968	chr9:116253613-116253614	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557291590	chr9:116253677-116253678	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528240719	chr9:116253784-116253785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12347382	chr9:116253800-116253801	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543087377	chr9:116253801-116253802	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186946816	chr9:116253820-116253821	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs386737789	chr9:116253869-116253870	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114507418	chr9:116253871-116253872	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559789813	chr9:116253897-116253898	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528738380	chr9:116253917-116253918	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551496509	chr9:116253948-116253949	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565246308	chr9:116253973-116253974	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531050351	chr9:116253991-116253992	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551072787	chr9:116254064-116254065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569901150	chr9:116254097-116254098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571623666	chr9:116254113-116254114	Weak transcription Enhancers	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
2	chr9:116240400-116254600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:116241200-116252800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:116242000-116254200	Weak transcription	Brain Germinal Matrix	brain
5	chr9:116242000-116254200	Weak transcription	Fetal Thymus	thymus
6	chr9:116242000-116255200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:116242000-116263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:116242600-116254200	Weak transcription	Fetal Brain Female	brain
10	chr9:116246600-116254400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:116246800-116254800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:116247000-116253600	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:116247000-116254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:116247000-116254800	Weak transcription	Stomach Mucosa	stomach
15	chr9:116247200-116254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:116248200-116253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:116248200-116259400	Weak transcription	Gastric	stomach
18	chr9:116248600-116261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:116248800-116253600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:116248800-116261600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:116249000-116254800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:116249400-116254600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:116250000-116252600	Strong transcription	A549	lung
24	chr9:116251000-116254600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:116251000-116263800	Weak transcription	Esophagus	oesophagus
26	chr9:116251200-116253600	Weak transcription	Right Ventricle	heart
27	chr9:116251200-116253800	Weak transcription	Aorta	Aorta
28	chr9:116251200-116254200	Weak transcription	HSMM	muscle
29	chr9:116251200-116254400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:116251200-116254400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:116251200-116254600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:116251200-116254600	Weak transcription	Placenta	Placenta
33	chr9:116251200-116254600	Weak transcription	Left Ventricle	heart
34	chr9:116251200-116254600	Weak transcription	Lung	lung
35	chr9:116251200-116254800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:116251200-116263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:116251400-116254400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:116251400-116254400	Weak transcription	Osteobl	bone
39	chr9:116251400-116254600	Weak transcription	Fetal Stomach	stomach
40	chr9:116251400-116254800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr9:116251400-116255000	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:116251400-116255000	Weak transcription	HSMMtube	muscle
43	chr9:116251600-116254400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:116251600-116254600	Weak transcription	NHDF-Ad	bronchial
45	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
46	chr9:116251800-116253600	Weak transcription	Fetal Heart	heart
47	chr9:116251800-116254200	Weak transcription	Right Atrium	heart
48	chr9:116251800-116254400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr9:116251800-116254600	Weak transcription	NHLF	lung
50	chr9:116251800-116254800	Weak transcription	Rectal Mucosa Donor 31	rectum

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