Variant report

Variant	nsv1042844
Chromosome Location	chr9:71686476-71718447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:71696609..71699452-chr9:71736834..71738699,2	MCF-7	breast:
2	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
3	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
4	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
5	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
6	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
7	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
8	chr9:71699452..71701501-chr9:71735733..71737488,2	MCF-7	breast:
9	chr9:71686014..71689293-chr9:71805643..71807349,3	K562	blood:
10	chr9:71688887..71691252-chr9:71735697..71737532,2	MCF-7	breast:
11	chr9:71718282..71721853-chr9:71734600..71737822,4	MCF-7	breast:
12	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
13	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:
14	chr9:71680760..71683108-chr9:71693749..71695954,2	K562	blood:
15	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
16	chr9:71700139..71702820-chr9:71819428..71821529,2	MCF-7	breast:
17	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 1333 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1333 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7870295	chr9:71686476-71686477	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574781106	chr9:71686487-71686488	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147505541	chr9:71686501-71686502	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117285502	chr9:71686513-71686514	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7858407	chr9:71686520-71686521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs374964384	chr9:71686521-71686522	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545544876	chr9:71686548-71686549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564082656	chr9:71686556-71686557	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7861997	chr9:71686557-71686558	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs10521429	chr9:71686565-71686566	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182028985	chr9:71686568-71686569	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374876788	chr9:71686616-71686617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373494668	chr9:71686632-71686633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370197247	chr9:71686635-71686636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373473532	chr9:71686652-71686653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9411184	chr9:71686664-71686665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7858657	chr9:71686702-71686703	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs73647066	chr9:71686719-71686720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73647067	chr9:71686725-71686726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558580498	chr9:71686797-71686798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570607224	chr9:71686814-71686815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7870727	chr9:71686866-71686867	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs1411676	chr9:71686918-71686919	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs574818743	chr9:71686950-71686951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1411675	chr9:71687052-71687053	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs557543600	chr9:71687062-71687063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186006836	chr9:71687170-71687171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138026620	chr9:71687190-71687191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73647068	chr9:71687191-71687192	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189253680	chr9:71687223-71687224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181234532	chr9:71687297-71687298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561646722	chr9:71687306-71687307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529209812	chr9:71687308-71687309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79110296	chr9:71687329-71687330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59524766	chr9:71687353-71687354	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533025860	chr9:71687359-71687360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3066313	chr9:71687400-71687401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56073758	chr9:71687401-71687402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199846335	chr9:71687402-71687403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200662493	chr9:71687403-71687404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7025834	chr9:71687440-71687441	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs186580424	chr9:71687451-71687452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534771399	chr9:71687477-71687478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202038201	chr9:71687531-71687532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138034837	chr9:71687538-71687539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143396368	chr9:71687539-71687540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201483490	chr9:71687555-71687556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56214919	chr9:71687562-71687563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1052201	chr9:71687569-71687570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61754561	chr9:71687579-71687580	Weak transcription Strong 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:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71659600-71689800	Weak transcription	Colonic Mucosa	Colon
2	chr9:71660000-71689400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:71664200-71691200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71664400-71693600	Weak transcription	HMEC	breast
5	chr9:71668600-71687400	Weak transcription	Thymus	Thymus
6	chr9:71669000-71688800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:71670000-71688400	Weak transcription	Fetal Brain Male	brain
8	chr9:71670000-71693800	Weak transcription	Stomach Mucosa	stomach
9	chr9:71671600-71686600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr9:71673200-71694800	Weak transcription	HSMM	muscle
11	chr9:71675000-71697400	Weak transcription	HUVEC	blood vessel
12	chr9:71675800-71691600	Weak transcription	Fetal Lung	lung
13	chr9:71676000-71693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:71676400-71693600	Weak transcription	Brain Substantia Nigra	brain
15	chr9:71677400-71700000	Weak transcription	NHDF-Ad	bronchial
16	chr9:71678000-71689000	Strong transcription	Primary T cells from cord blood	blood
17	chr9:71678200-71690600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:71678400-71686600	Strong transcription	Fetal Stomach	stomach
19	chr9:71678800-71688800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:71679200-71688800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr9:71679200-71693000	Weak transcription	Aorta	Aorta
22	chr9:71679400-71688600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:71679400-71688800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:71679400-71688800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:71679400-71688800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:71679400-71688800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr9:71679600-71688800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr9:71679800-71688400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:71680000-71688600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:71680200-71700800	Weak transcription	Fetal Kidney	kidney
31	chr9:71680800-71686600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:71680800-71693000	Weak transcription	Osteobl	bone
33	chr9:71681200-71688800	Strong transcription	Liver	Liver
34	chr9:71681200-71689600	Weak transcription	A549	lung
35	chr9:71681200-71690200	Weak transcription	NH-A	brain
36	chr9:71681200-71693400	Weak transcription	Brain Anterior Caudate	brain
37	chr9:71681200-71700800	Weak transcription	K562	blood
38	chr9:71681400-71686600	Strong transcription	Pancreas	Pancrea
39	chr9:71681400-71693400	Weak transcription	Brain Angular Gyrus	brain
40	chr9:71681600-71687600	Strong transcription	HepG2	liver
41	chr9:71681600-71690000	Weak transcription	HSMMtube	muscle
42	chr9:71681600-71690200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr9:71681600-71692800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:71681600-71692800	Weak transcription	Hela-S3	cervix
45	chr9:71682200-71687000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr9:71682200-71688600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:71682200-71700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:71682400-71687600	Weak transcription	Colon Smooth Muscle	Colon
49	chr9:71682400-71688800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:71682600-71690200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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