Variant report

Variant	esv20116
Chromosome Location	chr9:117831511-117832302
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	POLR2A	chr9:117832071-117835221	U87	brain:	n/a	n/a
2	POLR2A	chr9:117832077-117832819	U87	brain:	n/a	n/a
3	POLR2A	chr9:117830941-117831809	U87	brain:	n/a	n/a
4	POLR2A	chr9:117830428-117831815	U87	brain:	n/a	n/a
5	POLR2A	chr9:117831915-117832770	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117823464..117826063-chr9:117830552..117832982,2	MCF-7	breast:

Variant related genes	Relation type
TNC	TF binding region
ENSG00000041982	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566725832	chr9:117831519-117831520	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535037884	chr9:117831597-117831598	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551765536	chr9:117831658-117831659	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs67231414	chr9:117831717-117831718	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537129193	chr9:117831723-117831724	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557580440	chr9:117831734-117831735	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377755034	chr9:117831782-117831783	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531322479	chr9:117831784-117831785	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73553161	chr9:117831799-117831800	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116406097	chr9:117831837-117831838	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561818246	chr9:117831871-117831872	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528921385	chr9:117831877-117831878	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78580914	chr9:117831881-117831882	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs151192189	chr9:117831889-117831890	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141366160	chr9:117831898-117831899	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372065960	chr9:117831909-117831910	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552817670	chr9:117831965-117831966	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28636890	chr9:117831969-117831970	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs28591676	chr9:117831981-117831982	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs28719783	chr9:117831989-117831990	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538341976	chr9:117832001-117832002	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556430771	chr9:117832005-117832006	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs28679713	chr9:117832013-117832014	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113577887	chr9:117832023-117832024	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535518255	chr9:117832029-117832030	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs28582703	chr9:117832033-117832034	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572031305	chr9:117832037-117832038	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191316176	chr9:117832049-117832050	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182351011	chr9:117832053-117832054	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141613500	chr9:117832065-117832066	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139254777	chr9:117832069-117832070	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs151045775	chr9:117832089-117832090	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532861680	chr9:117832114-117832115	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575877265	chr9:117832137-117832138	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186635597	chr9:117832163-117832164	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544622869	chr9:117832166-117832167	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192528622	chr9:117832176-117832177	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs575341613	chr9:117832199-117832200	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555138854	chr9:117832222-117832223	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183539190	chr9:117832263-117832264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117312059	chr9:117832291-117832292	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
2	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
4	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:117817800-117850600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:117819800-117848000	Weak transcription	Fetal Intestine Small	intestine
7	chr9:117821400-117840200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:117822400-117854400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:117825400-117848000	Weak transcription	Lung	lung
10	chr9:117826000-117834200	Weak transcription	Fetal Kidney	kidney
11	chr9:117826400-117833600	Weak transcription	HSMMtube	muscle
12	chr9:117826400-117834400	Weak transcription	Esophagus	oesophagus
13	chr9:117826400-117835800	Weak transcription	Aorta	Aorta
14	chr9:117826600-117835600	Weak transcription	HMEC	breast
15	chr9:117826800-117849400	Strong transcription	Osteobl	bone
16	chr9:117827000-117834800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:117827000-117834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:117827000-117848600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:117827000-117849200	Strong transcription	NHDF-Ad	bronchial
20	chr9:117827200-117832400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:117827200-117832400	Weak transcription	NHEK	skin
22	chr9:117827200-117832600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:117827200-117834200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:117827200-117834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:117827200-117835800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:117827200-117855200	Strong transcription	NH-A	brain
27	chr9:117827400-117832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:117827400-117832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:117827400-117832600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:117827400-117834400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:117827400-117849200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:117828000-117832400	Weak transcription	Fetal Stomach	stomach
33	chr9:117828000-117832600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:117828200-117832400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:117828200-117833800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:117828400-117831800	Enhancers	Rectal Smooth Muscle	rectum
37	chr9:117828800-117833600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:117829400-117839200	Strong transcription	NHLF	lung
39	chr9:117829800-117831600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:117829800-117838400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:117830200-117833400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:117830400-117831800	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr9:117830400-117832600	Genic enhancers	Colon Smooth Muscle	Colon
44	chr9:117830400-117840800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:117830800-117838600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:117831200-117832400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:117831400-117833600	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:117831400-117834600	Weak transcription	Fetal Lung	lung
49	chr9:117831600-117832000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:117831800-117832800	Weak transcription	Rectal Smooth Muscle	rectum

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