Variant report

Variant	esv2624430
Chromosome Location	chr9:71702500-71703990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:
2	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
3	chr9:71700139..71702820-chr9:71819428..71821529,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556258290	chr9:71702529-71702530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113911361	chr9:71702573-71702574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs10125005	chr9:71702636-71702637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150387486	chr9:71702786-71702787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138087286	chr9:71702787-71702788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190176506	chr9:71702803-71702804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527919047	chr9:71702816-71702817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10116434	chr9:71702821-71702822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530765661	chr9:71702845-71702846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182784546	chr9:71702851-71702852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374263152	chr9:71702868-71702869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531277847	chr9:71702905-71702906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186080732	chr9:71702914-71702915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149518334	chr9:71702915-71702916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10117212	chr9:71702944-71702945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs547423309	chr9:71702957-71702958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386734764	chr9:71702994-71702995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113592222	chr9:71702995-71702996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11145123	chr9:71702996-71702997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11145124	chr9:71702999-71703000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567786158	chr9:71703008-71703009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538311706	chr9:71703073-71703074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190949580	chr9:71703095-71703096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577993089	chr9:71703098-71703099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10781392	chr9:71703103-71703104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs554201726	chr9:71703142-71703143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572380967	chr9:71703150-71703151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553887673	chr9:71703151-71703152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563831468	chr9:71703157-71703158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10869841	chr9:71703162-71703163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10869842	chr9:71703164-71703165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9314858	chr9:71703230-71703231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561110767	chr9:71703237-71703238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9314859	chr9:71703255-71703256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112585893	chr9:71703276-71703277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57964373	chr9:71703318-71703319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370889223	chr9:71703336-71703337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61708222	chr9:71703341-71703342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12376129	chr9:71703369-71703370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12377031	chr9:71703370-71703371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12380506	chr9:71703390-71703391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11145125	chr9:71703404-71703405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11145126	chr9:71703411-71703412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11145127	chr9:71703412-71703413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11145128	chr9:71703419-71703420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12376131	chr9:71703425-71703426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532052178	chr9:71703429-71703430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10781393	chr9:71703448-71703449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547355027	chr9:71703457-71703458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56405728	chr9:71703460-71703461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71683600-71704200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:71684800-71705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:71686600-71704400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:71688600-71704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:71688800-71704000	Weak transcription	Placenta	Placenta
6	chr9:71688800-71709200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:71694200-71711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:71699200-71704800	Weak transcription	Small Intestine	intestine
9	chr9:71700600-71702800	Enhancers	Fetal Stomach	stomach
10	chr9:71701000-71703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:71701000-71703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:71701000-71703800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:71701000-71705600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:71701200-71704200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:71701200-71705200	Weak transcription	Adipose Nuclei	Adipose
16	chr9:71701200-71705600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:71701400-71704000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:71701400-71704600	Weak transcription	Lung	lung
19	chr9:71701400-71714400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:71701600-71703200	Weak transcription	Psoas Muscle	Psoas
21	chr9:71701600-71704000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:71701600-71704000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:71701600-71704000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:71701600-71704000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:71701600-71704600	Weak transcription	Left Ventricle	heart
26	chr9:71701600-71704600	Weak transcription	Right Ventricle	heart
27	chr9:71701600-71705400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:71701600-71709400	Weak transcription	Gastric	stomach
29	chr9:71701800-71735200	Weak transcription	Primary T cells from cord blood	blood
30	chr9:71702000-71703800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:71702000-71704600	Weak transcription	HUVEC	blood vessel
32	chr9:71702000-71716800	Weak transcription	Fetal Heart	heart
33	chr9:71702200-71704800	Weak transcription	Fetal Kidney	kidney
34	chr9:71702200-71705600	Weak transcription	Fetal Lung	lung
35	chr9:71702200-71708200	Weak transcription	Pancreas	Pancrea
36	chr9:71702400-71704000	Weak transcription	Liver	Liver
37	chr9:71702400-71704400	Weak transcription	Stomach Mucosa	stomach
38	chr9:71702400-71707600	Weak transcription	HepG2	liver
39	chr9:71702400-71711200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:71702800-71705200	Weak transcription	Fetal Stomach	stomach
41	chr9:71703600-71703800	Enhancers	Psoas Muscle	Psoas
42	chr9:71703800-71704400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr9:71703800-71704400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:71703800-71704400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:71703800-71704600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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