Variant report

Variant	nsv972407
Chromosome Location	chr9:86501897-86517820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:86509271-86509565	HepG2	liver:	n/a	n/a
2	CTCF	chr9:86514067-86514073	GM13976	blood:	n/a	n/a
3	CTCF	chr9:86514091-86514108	GM13976	blood:	n/a	n/a
4	CTCF	chr9:86514112-86514137	GM13976	blood:	n/a	n/a
5	CTCF	chr9:86506567-86506590	GM10248	blood:	n/a	n/a
6	CTCF	chr9:86517290-86517305	GM10266	blood:	n/a	n/a
7	FOS	chr9:86509271-86509548	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr9:86509264-86509534	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr9:86509311-86509514	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:86509332-86509508	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA1	chr9:86501507-86501931	HepG2	liver:	n/a	n/a
12	FOXA2	chr9:86509286-86509457	HepG2	liver:	n/a	n/a
13	MAFK	chr9:86506056-86506221	HepG2	liver:	n/a	chr9:86506117-86506128 chr9:86506117-86506128
14	MAZ	chr9:86510463-86510467	HepG2	liver:	n/a	n/a
15	POLR2A	chr9:86514583-86514623	MCF-7	breast:	n/a	n/a
16	POLR2A	chr9:86507911-86508113	Gliobla	brain:	n/a	n/a
17	POLR2A	chr9:86508012-86508116	MCF-7	breast:	n/a	n/a
18	POLR2A	chr9:86504426-86504611	A549	lung:	n/a	n/a
19	POLR2A	chr9:86514533-86514564	MCF-7	breast:	n/a	n/a
20	POLR2A	chr9:86508180-86508213	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:86505101-86505225	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:86509410-86509598	Gliobla	brain:	n/a	n/a
23	POLR2A	chr9:86513744-86513859	MCF-7	breast:	n/a	n/a
24	POLR2A	chr9:86507996-86508132	A549	lung:	n/a	n/a
25	POLR2A	chr9:86508065-86508111	MCF-7	breast:	n/a	n/a
26	POLR2A	chr9:86502425-86502569	MCF-7	breast:	n/a	n/a
27	POLR2A	chr9:86515935-86516000	MCF-7	breast:	n/a	n/a
28	POLR2A	chr9:86505074-86505172	ProgFib	skin:	n/a	n/a
29	POLR2A	chr9:86513740-86513888	Gliobla	brain:	n/a	n/a
30	POLR2A	chr9:86515839-86516037	Gliobla	brain:	n/a	n/a
31	POLR2A	chr9:86513727-86513739	Gliobla	brain:	n/a	n/a
32	POLR2A	chr9:86507985-86507992	A549	lung:	n/a	n/a
33	POLR2A	chr9:86514625-86514754	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:86514504-86514519	MCF-7	breast:	n/a	n/a
35	POLR2A	chr9:86509487-86509548	K562	blood:	n/a	n/a
36	POLR2A	chr9:86516657-86516674	MCF-7	breast:	n/a	n/a
37	SPI1	chr9:86506725-86506981	GM12878	blood:	n/a	chr9:86506921-86506928 chr9:86506851-86506860
38	SPI1	chr9:86506641-86506979	GM12891	blood:	n/a	chr9:86506921-86506928 chr9:86506851-86506860
39	SPI1	chr9:86506671-86506954	GM12891	blood:	n/a	chr9:86506921-86506928 chr9:86506851-86506860

No.	Distal block	Cell Line	Cell type
1	chr9:86507562..86509693-chr9:86509764..86511267,2	K562	blood:
2	chr9:86507562..86509693-chr9:86509764..86511267,2	K562	blood:
3	chr9:86499637..86502408-chr9:86534472..86537007,2	MCF-7	breast:

Variant related genes	Relation type
KIF27	TF binding region
ENSG00000165115	chromatin interactions

Extended variants
information (count: 617 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571503633	chr9:86501942-86501943	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150902888	chr9:86501983-86501984	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139434047	chr9:86501992-86501993	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543373060	chr9:86502015-86502016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541364399	chr9:86502037-86502038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138059115	chr9:86502046-86502047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192130800	chr9:86502050-86502051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554432970	chr9:86502073-86502074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573015713	chr9:86502076-86502077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537713867	chr9:86502115-86502116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185127971	chr9:86502161-86502162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558625339	chr9:86502168-86502169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371905852	chr9:86502189-86502190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544220830	chr9:86502218-86502219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113746751	chr9:86502227-86502228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531216793	chr9:86502251-86502252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543324246	chr9:86502283-86502284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189591822	chr9:86502313-86502314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533366301	chr9:86502368-86502369	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528689133	chr9:86502374-86502375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56045327	chr9:86502411-86502412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs571399988	chr9:86502429-86502430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532518023	chr9:86502468-86502469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550544768	chr9:86502477-86502478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146228809	chr9:86502566-86502567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146292912	chr9:86502650-86502651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554851017	chr9:86502674-86502675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566505691	chr9:86502703-86502704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181170073	chr9:86502727-86502728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2780173	chr9:86502787-86502788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150637966	chr9:86502789-86502790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2780174	chr9:86502793-86502794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139915902	chr9:86502800-86502801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112428411	chr9:86502811-86502812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142412532	chr9:86502853-86502854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529444138	chr9:86502872-86502873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549195744	chr9:86502888-86502889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574509694	chr9:86502894-86502895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55919418	chr9:86502975-86502976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568599628	chr9:86503025-86503026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2780175	chr9:86503045-86503046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561635610	chr9:86503102-86503103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537517084	chr9:86503135-86503136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397834386	chr9:86503187-86503188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557853905	chr9:86503188-86503189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397819382	chr9:86503190-86503191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189383629	chr9:86503235-86503236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144800998	chr9:86503251-86503252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565171368	chr9:86503254-86503255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397835024	chr9:86503273-86503274	Weak transcription	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86460600-86518200	Weak transcription	Thymus	Thymus
2	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:86461600-86535400	Weak transcription	Ovary	ovary
4	chr9:86462200-86535200	Weak transcription	Fetal Brain Female	brain
5	chr9:86462600-86503800	Weak transcription	Dnd41	blood
6	chr9:86462600-86535200	Weak transcription	Brain Anterior Caudate	brain
7	chr9:86462800-86515000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:86462800-86518000	Weak transcription	Fetal Intestine Large	intestine
9	chr9:86462800-86518000	Weak transcription	Fetal Stomach	stomach
10	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:86482000-86518000	Weak transcription	Left Ventricle	heart
12	chr9:86490400-86510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:86491000-86535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:86491200-86502200	Weak transcription	Brain Germinal Matrix	brain
15	chr9:86491200-86535200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:86491400-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:86491800-86518200	Weak transcription	Primary B cells from cord blood	blood
18	chr9:86495000-86518000	Weak transcription	Primary T cells from cord blood	blood
19	chr9:86496000-86535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:86496400-86533000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:86496600-86515600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:86498800-86504000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:86499200-86513400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:86499400-86518200	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:86499400-86535000	Weak transcription	Fetal Kidney	kidney
26	chr9:86499800-86523200	Weak transcription	Fetal Thymus	thymus
27	chr9:86500000-86534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:86500200-86521200	Weak transcription	Adipose Nuclei	Adipose
29	chr9:86500200-86521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:86500200-86535200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:86500200-86535200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:86500200-86535600	Weak transcription	Lung	lung
33	chr9:86500600-86502000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:86500600-86503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:86500800-86502000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr9:86501000-86502800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:86501000-86504400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:86501200-86514600	Weak transcription	HepG2	liver
39	chr9:86501200-86521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:86501400-86503600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:86501400-86503600	Weak transcription	A549	lung
42	chr9:86501600-86502000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:86501800-86502400	Weak transcription	Fetal Lung	lung
44	chr9:86501800-86504600	Weak transcription	Hela-S3	cervix
45	chr9:86501800-86512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:86502000-86511600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:86502000-86532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:86502200-86502800	Strong transcription	Brain Germinal Matrix	brain
49	chr9:86502400-86502600	Strong transcription	Fetal Lung	lung
50	chr9:86502600-86535000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links