Variant report

Variant	esv2559913
Chromosome Location	chr9:71777688-71779339
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	chr9:71774601..71776858-chr9:71777097..71779223,2	K562	blood:
2	chr9:71778680..71780994-chr9:71818253..71820499,2	K562	blood:

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549883461	chr9:71777799-71777800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370768458	chr9:71777820-71777821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543259009	chr9:71777862-71777863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112920233	chr9:71777869-71777870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4745650	chr9:71777892-71777893	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs188465323	chr9:71777923-71777924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201502981	chr9:71777936-71777937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375359961	chr9:71777941-71777942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201963326	chr9:71777942-71777943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199893021	chr9:71777943-71777944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200848081	chr9:71777944-71777945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201800991	chr9:71777945-71777946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57162015	chr9:71777946-71777947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201060163	chr9:71777949-71777950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369726285	chr9:71777951-71777952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113609110	chr9:71777965-71777966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566066108	chr9:71777972-71777973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578053489	chr9:71778098-71778099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373633150	chr9:71778239-71778240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560550828	chr9:71778243-71778244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572510396	chr9:71778244-71778245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192942334	chr9:71778279-71778280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149260959	chr9:71778314-71778315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532031577	chr9:71778351-71778352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550357581	chr9:71778373-71778374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370791811	chr9:71778381-71778382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555114120	chr9:71778425-71778426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532253920	chr9:71778429-71778430	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376712021	chr9:71778462-71778463	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144491474	chr9:71778523-71778524	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397894338	chr9:71778555-71778556	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398010805	chr9:71778569-71778570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543912237	chr9:71778577-71778578	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139507008	chr9:71778606-71778607	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369177690	chr9:71778617-71778618	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557578721	chr9:71778673-71778674	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547778399	chr9:71778674-71778675	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376563076	chr9:71778712-71778713	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569625267	chr9:71778735-71778736	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548574016	chr9:71778762-71778763	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536900342	chr9:71778791-71778792	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372525484	chr9:71778832-71778833	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529474982	chr9:71778845-71778846	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375127113	chr9:71778850-71778851	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116558396	chr9:71778861-71778862	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577356687	chr9:71778943-71778944	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12056979	chr9:71778946-71778947	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs143398581	chr9:71778963-71778964	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554003376	chr9:71778969-71778970	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147228627	chr9:71778983-71778984	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71738000-71778200	Weak transcription	Primary T cells from cord blood	blood
2	chr9:71746400-71783200	Weak transcription	Small Intestine	intestine
3	chr9:71749800-71780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:71752000-71780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:71752000-71788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:71753200-71778800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:71755600-71788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:71757600-71783800	Weak transcription	Stomach Mucosa	stomach
9	chr9:71764600-71783600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:71764600-71783800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:71765000-71779400	Weak transcription	Aorta	Aorta
12	chr9:71765000-71783000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:71765000-71787800	Weak transcription	Left Ventricle	heart
14	chr9:71765000-71788600	Weak transcription	Gastric	stomach
15	chr9:71765200-71778800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:71766200-71783800	Weak transcription	Thymus	Thymus
17	chr9:71767400-71782800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:71767600-71787800	Weak transcription	Fetal Heart	heart
19	chr9:71767600-71787800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:71769000-71778800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr9:71769000-71788000	Weak transcription	Fetal Kidney	kidney
22	chr9:71769400-71785000	Weak transcription	HUVEC	blood vessel
23	chr9:71770600-71778400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:71770600-71788600	Weak transcription	Esophagus	oesophagus
25	chr9:71770800-71778600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:71770800-71778600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:71770800-71778800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:71770800-71779800	Weak transcription	Fetal Stomach	stomach
29	chr9:71770800-71780400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr9:71770800-71788400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:71770800-71788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:71771000-71778800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr9:71771200-71783400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:71771200-71783600	Weak transcription	Liver	Liver
35	chr9:71772000-71783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:71773000-71780000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:71773000-71783000	Weak transcription	NHEK	skin
38	chr9:71773000-71783600	Weak transcription	HMEC	breast
39	chr9:71773000-71783800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:71773200-71783800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:71773600-71783600	Weak transcription	Placenta	Placenta
42	chr9:71775200-71779600	Weak transcription	Fetal Brain Male	brain
43	chr9:71775600-71778600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:71776200-71778400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:71776200-71779200	Weak transcription	HepG2	liver
46	chr9:71776200-71783800	Weak transcription	Lung	lung
47	chr9:71776200-71785600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:71776200-71788000	Weak transcription	Pancreas	Pancrea
49	chr9:71776400-71778400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:71776600-71780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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