Variant report

Variant	esv2422541
Chromosome Location	chr9:117857050-117858665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr9:117857334-117857390	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr9:117857334-117857422	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr9:117853634-117857758	U87	brain:	n/a	n/a
4	POLR2A	chr9:117851943-117857764	U87	brain:	n/a	n/a
5	POLR2A	chr9:117858058-117881674	U87	brain:	n/a	n/a
6	POLR2A	chr9:117858058-117863692	U87	brain:	n/a	n/a
7	RFX5	chr9:117858177-117858187	K562	blood:	n/a	n/a

Variant related genes	Relation type
TNC	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386737890	chr9:117857094-117857095	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs59741108	chr9:117857096-117857097	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113078284	chr9:117857118-117857119	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1631671	chr9:117857146-117857147	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542729436	chr9:117857152-117857153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35769589	chr9:117857265-117857266	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs531974210	chr9:117857273-117857274	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550094048	chr9:117857296-117857297	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs193152672	chr9:117857369-117857370	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573131301	chr9:117857377-117857378	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555126076	chr9:117857411-117857412	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561877358	chr9:117857433-117857434	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs545259759	chr9:117857466-117857467	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201174311	chr9:117857483-117857484	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs386737891	chr9:117857487-117857488	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201796179	chr9:117857489-117857490	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs74810309	chr9:117857490-117857491	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191395165	chr9:117857644-117857645	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs183507166	chr9:117857678-117857679	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs145700340	chr9:117857716-117857717	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369832537	chr9:117857725-117857726	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190672737	chr9:117857736-117857737	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs10982523	chr9:117857747-117857748	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374031064	chr9:117857749-117857750	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370145926	chr9:117857750-117857751	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373362554	chr9:117857772-117857773	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs66650699	chr9:117857781-117857782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373258478	chr9:117857782-117857783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9657669	chr9:117857783-117857784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201352062	chr9:117857791-117857792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76604605	chr9:117857792-117857793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367984758	chr9:117857793-117857794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181923762	chr9:117857813-117857814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377064801	chr9:117857825-117857826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370174032	chr9:117857827-117857828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374125995	chr9:117857835-117857836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375996341	chr9:117857837-117857838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185671432	chr9:117857853-117857854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190141736	chr9:117857857-117857858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551692241	chr9:117857873-117857874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181543234	chr9:117857877-117857878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537278685	chr9:117857883-117857884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370351843	chr9:117857885-117857886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200921403	chr9:117857887-117857888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185800120	chr9:117857899-117857900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374345348	chr9:117857908-117857909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190143316	chr9:117857927-117857928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370860688	chr9:117857929-117857930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9657670	chr9:117857931-117857932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200930103	chr9:117857940-117857941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117841200-117860600	Weak transcription	Fetal Kidney	kidney
3	chr9:117849400-117876200	Weak transcription	Aorta	Aorta
4	chr9:117849400-117877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:117849600-117864600	Weak transcription	HMEC	breast
6	chr9:117849800-117860400	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:117849800-117860600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:117851200-117867200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:117853400-117857200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:117853400-117857200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:117853400-117858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:117853400-117861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:117853400-117874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:117854000-117860600	Weak transcription	NHDF-Ad	bronchial
15	chr9:117854400-117860600	Weak transcription	Osteobl	bone
16	chr9:117855200-117857200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:117855200-117857600	Enhancers	Rectal Smooth Muscle	rectum
18	chr9:117855200-117861000	Weak transcription	NH-A	brain
19	chr9:117855400-117857200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr9:117855400-117857400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:117855400-117857600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr9:117855600-117857200	Enhancers	Fetal Lung	lung
23	chr9:117855600-117857600	Enhancers	Colon Smooth Muscle	Colon
24	chr9:117855800-117857200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:117856200-117857200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:117856200-117857400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr9:117856400-117857200	Enhancers	Brain Substantia Nigra	brain
28	chr9:117856400-117857400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:117856600-117857200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:117856600-117857200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr9:117856600-117857400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr9:117856800-117857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:117856800-117857400	Genic enhancers	NHEK	skin
34	chr9:117856800-117860400	Weak transcription	Fetal Stomach	stomach
35	chr9:117857000-117857200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:117857000-117857200	Enhancers	Spleen	Spleen
37	chr9:117857000-117857200	Enhancers	NHLF	lung
38	chr9:117857000-117857600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:117857000-117857600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:117857000-117857600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:117857200-117857400	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:117857200-117857400	Genic enhancers	NHLF	lung
43	chr9:117857200-117857600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:117857200-117857600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:117857200-117857600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:117857200-117858200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:117857200-117858200	Weak transcription	Spleen	Spleen
48	chr9:117857200-117859400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:117857200-117859600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:117857200-117860000	Weak transcription	Fetal Lung	lung

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