Variant report

Variant	nsv430078
Chromosome Location	chr9:93609668-93642766
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93571707..93573621-chr9:93620166..93622474,2	MCF-7	breast:
2	chr9:93610605..93612504-chr9:93617478..93619877,2	K562	blood:
3	chr9:93628438..93632863-chr9:93633146..93636625,4	K562	blood:
4	chr9:93610605..93612504-chr9:93617478..93619877,2	K562	blood:
5	chr9:93633763..93637108-chr9:93639159..93643075,3	MCF-7	breast:
6	chr9:93633763..93637108-chr9:93639159..93643075,3	MCF-7	breast:
7	chr9:93607214..93610736-chr9:93616305..93618724,3	MCF-7	breast:
8	chr9:93612029..93614987-chr9:93622441..93624241,2	MCF-7	breast:
9	chr9:93607214..93610736-chr9:93616305..93618724,3	MCF-7	breast:
10	chr9:93638591..93640127-chr9:93644373..93647334,2	K562	blood:
11	chr9:93619506..93622175-chr9:93629106..93631175,2	MCF-7	breast:
12	chr9:93536801..93537568-chr9:93617128..93617717,2	MCF-7	breast:
13	chr9:93598552..93601141-chr9:93613328..93615563,2	MCF-7	breast:
14	chr9:93563040..93565332-chr9:93619381..93621543,3	MCF-7	breast:
15	chr9:93536735..93537703-chr9:93632954..93633929,5	MCF-7	breast:
16	chr9:93628438..93632863-chr9:93633146..93636625,4	K562	blood:
17	chr9:93600199..93601130-chr9:93632811..93633736,2	MCF-7	breast:
18	chr9:93488467..93489082-chr9:93633187..93633730,2	MCF-7	breast:
19	chr9:93080247..93081211-chr9:93633166..93633778,2	MCF-7	breast:
20	chr9:93612250..93614199-chr9:93619484..93621935,2	MCF-7	breast:
21	chr9:93562955..93565844-chr9:93624678..93627429,2	MCF-7	breast:
22	chr9:93562366..93565810-chr9:93615193..93619315,4	MCF-7	breast:
23	chr9:93563271..93565722-chr9:93625560..93627552,2	MCF-7	breast:
24	chr9:93561974..93565264-chr9:93607665..93610722,3	MCF-7	breast:
25	chr9:93636708..93639399-chr9:93641106..93642988,2	K562	blood:
26	chr9:93636708..93639399-chr9:93641106..93642988,2	K562	blood:
27	chr9:93563257..93565771-chr9:93639113..93640661,2	MCF-7	breast:
28	chr9:93612029..93614987-chr9:93622441..93624241,2	MCF-7	breast:
29	chr9:93612250..93614199-chr9:93619484..93621935,2	MCF-7	breast:
30	chr9:93619506..93622175-chr9:93629106..93631175,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165025	chromatin interactions

Extended variants
information (count: 1406 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10993710	chr9:93609668-93609669	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151175809	chr9:93609673-93609674	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201392150	chr9:93609674-93609675	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547183866	chr9:93609687-93609688	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374278880	chr9:93609702-93609703	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79161607	chr9:93609703-93609704	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141870349	chr9:93609763-93609764	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2387337	chr9:93609773-93609774	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200593094	chr9:93609788-93609789	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12345579	chr9:93609851-93609852	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150638217	chr9:93609910-93609911	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547607676	chr9:93609980-93609981	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78243337	chr9:93610008-93610009	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73506005	chr9:93610029-93610030	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555807597	chr9:93610057-93610058	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575654406	chr9:93610083-93610084	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535108607	chr9:93610084-93610085	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567018297	chr9:93610095-93610096	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555053848	chr9:93610124-93610125	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1993704	chr9:93610132-93610133	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540566086	chr9:93610151-93610152	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533998156	chr9:93610172-93610173	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555543123	chr9:93610180-93610181	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72729045	chr9:93610200-93610201	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577325407	chr9:93610240-93610241	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187757695	chr9:93610282-93610283	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367779399	chr9:93610340-93610341	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544469744	chr9:93610421-93610422	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371490742	chr9:93610472-93610473	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7022975	chr9:93610496-93610497	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531814753	chr9:93610498-93610499	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542276660	chr9:93610499-93610500	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561923689	chr9:93610604-93610605	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76916427	chr9:93610630-93610631	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371966366	chr9:93610634-93610635	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570644811	chr9:93610647-93610648	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116368808	chr9:93610655-93610656	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149504220	chr9:93610675-93610676	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569446608	chr9:93610679-93610680	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192133617	chr9:93610689-93610690	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146004418	chr9:93610727-93610728	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4744514	chr9:93610761-93610762	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183264130	chr9:93610775-93610776	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554136352	chr9:93610801-93610802	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545818308	chr9:93610829-93610830	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577534727	chr9:93610854-93610855	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546445803	chr9:93610855-93610856	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187282102	chr9:93610877-93610878	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192165286	chr9:93610958-93610959	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549431511	chr9:93610983-93610984	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93599200-93616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:93600200-93613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:93604400-93616200	Weak transcription	HMEC	breast
5	chr9:93604800-93612400	Weak transcription	Placenta	Placenta
6	chr9:93604800-93616600	Weak transcription	NHEK	skin
7	chr9:93604800-93617200	Strong transcription	Spleen	Spleen
8	chr9:93605000-93616400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:93605000-93622800	Weak transcription	Adipose Nuclei	Adipose
10	chr9:93605000-93633000	Weak transcription	Fetal Kidney	kidney
11	chr9:93605200-93616400	Weak transcription	K562	blood
12	chr9:93605400-93612400	Strong transcription	Gastric	stomach
13	chr9:93605400-93614200	Strong transcription	Fetal Stomach	stomach
14	chr9:93605600-93612600	Strong transcription	GM12878-XiMat	blood
15	chr9:93605600-93615600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr9:93605600-93617400	Strong transcription	Thymus	Thymus
17	chr9:93605800-93621400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr9:93605800-93621600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr9:93605800-93631000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr9:93606000-93615600	Strong transcription	Fetal Thymus	thymus
21	chr9:93606000-93616600	Strong transcription	Fetal Intestine Small	intestine
22	chr9:93606000-93619600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:93606200-93612000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:93606200-93615600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr9:93606200-93615600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr9:93606200-93616200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr9:93606200-93616400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:93606200-93616800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr9:93606400-93616200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:93606400-93616400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr9:93606600-93610400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:93606600-93611200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:93606600-93611200	Strong transcription	Stomach Mucosa	stomach
34	chr9:93606600-93615000	Weak transcription	Liver	Liver
35	chr9:93606600-93615600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:93606600-93617400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr9:93606600-93619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:93606800-93609800	Weak transcription	Lung	lung
39	chr9:93607000-93620000	Strong transcription	Primary B cells from cord blood	blood
40	chr9:93607600-93614000	Strong transcription	Fetal Intestine Large	intestine
41	chr9:93607800-93610000	Enhancers	Psoas Muscle	Psoas
42	chr9:93607800-93612600	Strong transcription	Esophagus	oesophagus
43	chr9:93608200-93611000	Weak transcription	Colonic Mucosa	Colon
44	chr9:93608200-93624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:93608400-93611200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr9:93608800-93613200	Strong transcription	Pancreas	Pancrea
47	chr9:93609000-93610000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr9:93609000-93612400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:93609000-93612600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:93609200-93611000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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