Variant report

Variant	esv3521722
Chromosome Location	chr9:97870450-97872469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:97871110-97871358	IMR90	lung:	n/a	n/a
2	CTCF	chr9:97870440-97870590	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr9:97870540-97870690	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr9:97870480-97870630	HAc	cerebellar:	n/a	n/a
5	MAFF	chr9:97870902-97871102	HepG2	liver:	n/a	chr9:97870949-97870967
6	MAFK	chr9:97870840-97871067	IMR90	lung:	n/a	chr9:97870951-97870966
7	MAFK	chr9:97870833-97871117	HepG2	liver:	n/a	chr9:97870951-97870966
8	MAFK	chr9:97870957-97871049	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:97872229-97872379	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:97870511-97870706	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr9:97870594-97870668	K562	blood:	n/a	n/a
12	POLR2A	chr9:97872159-97872212	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:97871837-97871926	A549	lung:	n/a	n/a
14	POLR2A	chr9:97870449-97870679	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr9:97871279-97871419	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:97872217-97872341	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr9:97870365-97870689	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97681719..97684667-chr9:97870774..97872478,2	MCF-7	breast:
2	chr9:97872125..97874653-chr9:97888365..97890015,2	MCF-7	breast:
3	chr9:97765734..97769902-chr9:97866720..97870876,4	MCF-7	breast:
4	chr9:97683150..97685264-chr9:97867859..97870450,2	MCF-7	breast:
5	chr9:97853610..97855332-chr9:97872385..97874393,2	MCF-7	breast:
6	chr9:97872127..97873689-chr9:97875520..97878426,2	K562	blood:
7	chr9:97870812..97875678-chr9:97877049..97880671,6	MCF-7	breast:
8	chr9:97867543..97869380-chr9:97871265..97873952,2	MCF-7	breast:
9	chr9:97441040..97444032-chr9:97871150..97872660,2	MCF-7	breast:
10	chr9:97863709..97866154-chr9:97872282..97873839,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229065	TF binding region
ENSG00000229065	chromatin interactions
ENSG00000148120	chromatin interactions
ENSG00000158169	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570260602	chr9:97870494-97870495	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556904426	chr9:97870516-97870517	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569019384	chr9:97870540-97870541	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111617243	chr9:97870544-97870545	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558082229	chr9:97870552-97870553	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577314265	chr9:97870553-97870554	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145881535	chr9:97870559-97870560	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117795230	chr9:97870560-97870561	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55651673	chr9:97870561-97870562	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535491238	chr9:97870566-97870567	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563768017	chr9:97870583-97870584	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531128443	chr9:97870586-97870587	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546181036	chr9:97870593-97870594	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564396280	chr9:97870600-97870601	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2151581	chr9:97870608-97870609	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2151580	chr9:97870617-97870618	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528090059	chr9:97870620-97870621	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3216732	chr9:97870626-97870627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs397840295	chr9:97870627-97870628	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577289397	chr9:97870633-97870634	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191389487	chr9:97870740-97870741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75232512	chr9:97870765-97870766	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538250934	chr9:97870781-97870782	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35209632	chr9:97870782-97870783	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377486075	chr9:97870825-97870826	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371201077	chr9:97870898-97870899	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553688206	chr9:97871060-97871061	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183355084	chr9:97871077-97871078	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539574312	chr9:97871088-97871089	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548990907	chr9:97871104-97871105	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558094525	chr9:97871112-97871113	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35774911	chr9:97871115-97871116	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566740573	chr9:97871139-97871140	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375088943	chr9:97871158-97871159	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs66956639	chr9:97871192-97871193	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs398011532	chr9:97871204-97871205	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62581079	chr9:97871206-97871207	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs112740485	chr9:97871217-97871218	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553432612	chr9:97871222-97871223	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs574763330	chr9:97871230-97871231	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs140938534	chr9:97871241-97871242	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557376511	chr9:97871248-97871249	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150183381	chr9:97871286-97871287	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200262330	chr9:97871291-97871292	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370792667	chr9:97871300-97871301	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545953235	chr9:97871351-97871352	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs138823394	chr9:97871362-97871363	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530921966	chr9:97871363-97871364	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373893972	chr9:97871366-97871367	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540507904	chr9:97871417-97871418	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97813000-97873000	Weak transcription	K562	blood
2	chr9:97820600-97875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr9:97838000-97871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr9:97844000-97898400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:97846200-97880000	Weak transcription	Primary B cells from cord blood	blood
6	chr9:97847600-97878400	Weak transcription	Dnd41	blood
7	chr9:97855200-97876800	Weak transcription	GM12878-XiMat	blood
8	chr9:97855400-97884800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:97855600-97876400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr9:97855600-97878600	Weak transcription	Stomach Mucosa	stomach
11	chr9:97856200-97872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:97858600-97877200	Strong transcription	Fetal Intestine Large	intestine
13	chr9:97858600-97878400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr9:97858800-97870800	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr9:97860000-97875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:97860400-97879000	Strong transcription	Liver	Liver
17	chr9:97861200-97877200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:97861200-97889800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:97862800-97874000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:97863200-97875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:97863400-97874800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:97863600-97883600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:97864000-97877800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr9:97865200-97876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:97865200-97877200	Weak transcription	Small Intestine	intestine
26	chr9:97865600-97870800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:97865600-97883600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:97865800-97877600	Strong transcription	Fetal Intestine Small	intestine
29	chr9:97866000-97883400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:97866000-97889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:97866200-97889600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:97866400-97875200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:97866400-97886600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:97866600-97873600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr9:97867000-97870800	Strong transcription	Right Ventricle	heart
36	chr9:97867000-97873000	Strong transcription	Fetal Stomach	stomach
37	chr9:97867000-97878800	Weak transcription	Right Atrium	heart
38	chr9:97867800-97877000	Strong transcription	Primary T cells from cord blood	blood
39	chr9:97868000-97871600	Enhancers	Brain Hippocampus Middle	brain
40	chr9:97868000-97873000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:97868200-97873600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr9:97868600-97889400	Weak transcription	Fetal Heart	heart
43	chr9:97868800-97870800	Enhancers	Brain Cingulate Gyrus	brain
44	chr9:97869000-97870800	Genic enhancers	Aorta	Aorta
45	chr9:97869000-97870800	Enhancers	Brain Anterior Caudate	brain
46	chr9:97869000-97870800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:97869000-97870800	Genic enhancers	Pancreas	Pancrea
48	chr9:97869000-97871000	Enhancers	Brain Substantia Nigra	brain
49	chr9:97869000-97871600	Weak transcription	Fetal Lung	lung
50	chr9:97869000-97872200	Genic enhancers	Fetal Muscle Leg	muscle

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