Variant report

Variant	nsv893699
Chromosome Location	chr9:110107862-110188197
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:75)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:110163569..110166135-chr9:110169451..110172399,2	K562	blood:
2	chr9:110125144..110126735-chr9:110143074..110144710,2	MCF-7	breast:
3	chr9:110001935..110002443-chr9:110184199..110185147,2	MCF-7	breast:
4	chr9:110184013..110187765-chr9:110249270..110252355,5	MCF-7	breast:
5	chr9:110045728..110048069-chr9:110135213..110138002,2	K562	blood:
6	chr9:110045443..110047613-chr9:110185117..110186657,2	MCF-7	breast:
7	chr9:110128135..110130801-chr9:110140141..110141695,2	K562	blood:
8	chr9:110158287..110160197-chr9:110171178..110174160,2	MCF-7	breast:
9	chr9:110111704..110113964-chr9:110124428..110126496,2	MCF-7	breast:
10	chr9:110128135..110130801-chr9:110140141..110141695,2	K562	blood:
11	chr9:110181806..110189176-chr9:110248252..110252415,8	MCF-7	breast:
12	chr9:110174887..110176675-chr9:110250364..110253245,2	MCF-7	breast:
13	chr9:110184426..110185077-chr9:111433603..111434378,2	MCF-7	breast:
14	chr9:110111704..110113964-chr9:110124428..110126496,2	MCF-7	breast:
15	chr9:110187270..110188262-chr9:111327797..111328302,2	K562	blood:
16	chr9:110116970..110119545-chr9:110250566..110253346,2	MCF-7	breast:
17	chr9:110184354..110184961-chr9:111196156..111196783,2	MCF-7	breast:
18	chr9:110181829..110186319-chr9:110191241..110195278,4	MCF-7	breast:
19	chr9:110162903..110166742-chr9:110167867..110171426,3	MCF-7	breast:
20	chr9:110184228..110185157-chr9:111034516..111035485,3	K562	blood:
21	chr9:110162903..110166742-chr9:110167867..110171426,3	MCF-7	breast:
22	chr9:110184199..110185540-chr9:110249535..110250385,9	MCF-7	breast:
23	chr9:110127505..110129546-chr9:110132653..110134679,2	MCF-7	breast:
24	chr9:110185127..110185629-chr9:110249513..110250083,2	MCF-7	breast:
25	chr9:110170386..110172426-chr9:110174654..110176410,2	MCF-7	breast:
26	chr9:110184255..110185077-chr9:111034463..111035128,2	MCF-7	breast:
27	chr9:110152883..110154512-chr9:110155019..110157513,2	MCF-7	breast:
28	chr9:110134794..110137082-chr9:110139907..110141476,2	MCF-7	breast:
29	chr9:110085982..110088584-chr9:110175084..110177177,2	MCF-7	breast:
30	chr9:110132075..110133981-chr9:110137165..110139957,2	K562	blood:
31	chr9:110182500..110184343-chr9:110186138..110187984,2	K562	blood:
32	chr9:110183179..110186128-chr9:110186282..110188736,3	MCF-7	breast:
33	chr9:110134229..110137170-chr9:110250472..110253406,2	MCF-7	breast:
34	chr9:110102299..110105687-chr9:110106035..110108571,3	MCF-7	breast:
35	chr9:110106380..110109788-chr9:110111716..110114487,3	MCF-7	breast:
36	chr9:110110289..110113154-chr9:110135338..110137467,2	MCF-7	breast:
37	chr9:110145175..110146959-chr9:110150543..110152332,2	MCF-7	breast:
38	chr9:110170386..110172426-chr9:110174654..110176410,2	MCF-7	breast:
39	chr9:110045030..110047891-chr9:110112419..110115505,4	MCF-7	breast:
40	chr9:110168053..110169690-chr9:110169953..110172501,2	MCF-7	breast:
41	chr9:110153627..110155410-chr9:110158172..110160949,2	MCF-7	breast:
42	chr9:110142183..110144215-chr9:110145846..110148245,2	K562	blood:
43	chr9:110044772..110047113-chr9:110139465..110141553,2	K562	blood:
44	chr9:110145175..110146959-chr9:110150543..110152332,2	MCF-7	breast:
45	chr9:110112610..110115972-chr9:110119503..110124106,4	MCF-7	breast:
46	chr9:110158287..110160197-chr9:110171178..110174160,2	MCF-7	breast:
47	chr9:110184696..110185627-chr9:111576094..111576804,2	MCF-7	breast:
48	chr9:110132075..110133981-chr9:110137165..110139957,2	K562	blood:
49	chr9:110169810..110171371-chr9:110249597..110251365,2	MCF-7	breast:
50	chr9:110187520..110188124-chr9:110205449..110206211,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF4-9	chr9:110184635-110184814	NONHSAT133870
2	lnc-KLF4-1	chr9:110182565-110182701	ENSG00000226825
3	lnc-KLF4-2	chr9:110109817-110109891	XLOC_007822
4	lnc-KLF4-9	chr9:110187442-110188060	NONHSAT133870
5	lnc-RAD23B-2	chr9:110116900-110116943	XLOC_007506
6	lnc-KLF4-9	chr9:110163816-110164035	NONHSAT133870

No data

Variant related genes	Relation type
ENSG00000136826	chromatin interactions
ENSG00000226825	chromatin interactions
ENSG00000119318	chromatin interactions
PGRMC1	miRNA target sites

Extended variants
information (count: 3343 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3343 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs716004	chr9:110107862-110107863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529810379	chr9:110107961-110107962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547995489	chr9:110108049-110108050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537794974	chr9:110108094-110108095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148567093	chr9:110108138-110108139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533670861	chr9:110108184-110108185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142558371	chr9:110108205-110108206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201650144	chr9:110108218-110108219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371593977	chr9:110108220-110108221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150946973	chr9:110108262-110108263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368405888	chr9:110108295-110108296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113799127	chr9:110108317-110108318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575235586	chr9:110108318-110108319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536025187	chr9:110108334-110108335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554432582	chr9:110108360-110108361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572567572	chr9:110108409-110108410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185209560	chr9:110108415-110108416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564611477	chr9:110108418-110108419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576311784	chr9:110108455-110108456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543821021	chr9:110108456-110108457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562605890	chr9:110108460-110108461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12003249	chr9:110108517-110108518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543196792	chr9:110108524-110108525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529969972	chr9:110108585-110108586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140472194	chr9:110108587-110108588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13289209	chr9:110108588-110108589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201385196	chr9:110108611-110108612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372325829	chr9:110108613-110108614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56313596	chr9:110108614-110108615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7039778	chr9:110108615-110108616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74320472	chr9:110108617-110108618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71861079	chr9:110108633-110108634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577819321	chr9:110108634-110108635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149869376	chr9:110108635-110108636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12003262	chr9:110108637-110108638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59978536	chr9:110108638-110108639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10739240	chr9:110108693-110108694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189877112	chr9:110108742-110108743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181013291	chr9:110108817-110108818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114818880	chr9:110108838-110108839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376348638	chr9:110108839-110108840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72738294	chr9:110108879-110108880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147776260	chr9:110108880-110108881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549766098	chr9:110108911-110108912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62569400	chr9:110108939-110108940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536199289	chr9:110109014-110109015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554395480	chr9:110109029-110109030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566234377	chr9:110109045-110109046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138034614	chr9:110109064-110109065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529896534	chr9:110109081-110109082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110097200-110113800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:110100600-110112800	Weak transcription	Esophagus	oesophagus
3	chr9:110101400-110111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:110101600-110108600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr9:110101600-110111200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:110103400-110110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:110103400-110111200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:110103600-110113600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:110103600-110113800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:110103600-110114000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:110103800-110108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:110103800-110110000	Weak transcription	Pancreas	Pancrea
13	chr9:110103800-110111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:110105200-110109400	Weak transcription	HSMMtube	muscle
15	chr9:110105400-110110000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:110105600-110113600	Weak transcription	HMEC	breast
17	chr9:110106200-110111400	Weak transcription	NHLF	lung
18	chr9:110106200-110114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:110106800-110108000	Enhancers	Fetal Thymus	thymus
20	chr9:110107000-110108000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:110107000-110108000	Enhancers	Thymus	Thymus
22	chr9:110107200-110108000	Enhancers	Fetal Muscle Leg	muscle
23	chr9:110107200-110108000	Enhancers	Ovary	ovary
24	chr9:110107200-110108000	Enhancers	Dnd41	blood
25	chr9:110107200-110108200	Enhancers	Primary T cells from cord blood	blood
26	chr9:110107200-110109800	Weak transcription	Psoas Muscle	Psoas
27	chr9:110107400-110108200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:110107400-110109400	Weak transcription	HSMM	muscle
29	chr9:110107600-110108000	Enhancers	Placenta	Placenta
30	chr9:110107600-110108000	Enhancers	Right Atrium	heart
31	chr9:110107600-110108000	Enhancers	NHDF-Ad	bronchial
32	chr9:110107600-110108200	Enhancers	Adipose Nuclei	Adipose
33	chr9:110107600-110108200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr9:110107600-110108200	Enhancers	Osteobl	bone
35	chr9:110107600-110111000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:110107800-110108000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:110107800-110108000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr9:110107800-110108000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr9:110107800-110108000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr9:110107800-110108000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr9:110107800-110108000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:110107800-110108200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:110107800-110108200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr9:110107800-110108200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:110108000-110110400	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:110108000-110111000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:110108200-110110800	Weak transcription	Osteobl	bone
48	chr9:110108200-110111000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:110110000-110110200	Enhancers	Psoas Muscle	Psoas
50	chr9:110110000-110110600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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