Variant report

Variant	esv2753071
Chromosome Location	chr9:86500946-86517546
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	CEBPB	chr9:86500418-86501027	IMR90	lung:	n/a	chr9:86500602-86500613
3	CEBPB	chr9:86500417-86501182	Hela-S3	cervix:	n/a	chr9:86500602-86500613
4	CTCF	chr9:86514067-86514073	GM13976	blood:	n/a	n/a
5	CTCF	chr9:86514091-86514108	GM13976	blood:	n/a	n/a
6	CTCF	chr9:86517290-86517305	GM10266	blood:	n/a	n/a
7	CTCF	chr9:86514112-86514137	GM13976	blood:	n/a	n/a
8	CTCF	chr9:86506567-86506590	GM10248	blood:	n/a	n/a
9	FOS	chr9:86509271-86509548	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:86509311-86509514	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr9:86509332-86509508	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:86500389-86501041	MCF10A-Er-Src	breast:	n/a	chr9:86500612-86500623
13	FOS	chr9:86509264-86509534	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL1	chr9:86500501-86500963	HCT-116	colon:	n/a	chr9:86500612-86500623
15	FOSL2	chr9:86501452-86501747	HepG2	liver:	n/a	chr9:86501612-86501623
16	FOSL2	chr9:86501462-86501769	HepG2	liver:	n/a	chr9:86501612-86501623
17	FOXA1	chr9:86501507-86501931	HepG2	liver:	n/a	n/a
18	FOXA1	chr9:86501511-86501786	HepG2	liver:	n/a	n/a
19	FOXA2	chr9:86501591-86501820	HepG2	liver:	n/a	n/a
20	FOXA2	chr9:86509286-86509457	HepG2	liver:	n/a	n/a
21	JUND	chr9:86501496-86501677	HepG2	liver:	n/a	n/a
22	JUND	chr9:86501502-86501719	HepG2	liver:	n/a	n/a
23	JUND	chr9:86500417-86501023	Hela-S3	cervix:	n/a	chr9:86500612-86500623
24	MAFK	chr9:86506056-86506221	HepG2	liver:	n/a	chr9:86506117-86506128 chr9:86506117-86506128
25	MAZ	chr9:86510463-86510467	HepG2	liver:	n/a	n/a
26	MXI1	chr9:86501025-86501050	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr9:86514504-86514519	MCF-7	breast:	n/a	n/a
28	POLR2A	chr9:86513740-86513888	Gliobla	brain:	n/a	n/a
29	POLR2A	chr9:86515839-86516037	Gliobla	brain:	n/a	n/a
30	POLR2A	chr9:86507996-86508132	A549	lung:	n/a	n/a
31	POLR2A	chr9:86501529-86501597	MCF-7	breast:	n/a	n/a
32	POLR2A	chr9:86509487-86509548	K562	blood:	n/a	n/a
33	POLR2A	chr9:86514625-86514754	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:86514583-86514623	MCF-7	breast:	n/a	n/a
35	POLR2A	chr9:86515935-86516000	MCF-7	breast:	n/a	n/a
36	POLR2A	chr9:86508065-86508111	MCF-7	breast:	n/a	n/a
37	POLR2A	chr9:86507911-86508113	Gliobla	brain:	n/a	n/a
38	POLR2A	chr9:86514533-86514564	MCF-7	breast:	n/a	n/a
39	POLR2A	chr9:86505101-86505225	GM12878	blood:	n/a	n/a
40	POLR2A	chr9:86516657-86516674	MCF-7	breast:	n/a	n/a
41	POLR2A	chr9:86513727-86513739	Gliobla	brain:	n/a	n/a
42	POLR2A	chr9:86509410-86509598	Gliobla	brain:	n/a	n/a
43	POLR2A	chr9:86508180-86508213	GM12878	blood:	n/a	n/a
44	POLR2A	chr9:86505074-86505172	ProgFib	skin:	n/a	n/a
45	POLR2A	chr9:86502425-86502569	MCF-7	breast:	n/a	n/a
46	POLR2A	chr9:86504426-86504611	A549	lung:	n/a	n/a
47	POLR2A	chr9:86507985-86507992	A549	lung:	n/a	n/a
48	POLR2A	chr9:86513744-86513859	MCF-7	breast:	n/a	n/a
49	POLR2A	chr9:86508012-86508116	MCF-7	breast:	n/a	n/a
50	RCOR1	chr9:86500333-86501149	IMR90	lung:	n/a	n/a

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

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

Extended variants
information (count: 645 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:645 , 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	rs80298859	chr9:86500964-86500965	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2274914	chr9:86500979-86500980	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs75622537	chr9:86500980-86500981	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577984761	chr9:86500983-86500984	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74367486	chr9:86501001-86501002	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111917339	chr9:86501041-86501042	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75755607	chr9:86501048-86501049	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556839977	chr9:86501059-86501060	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184829742	chr9:86501109-86501110	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542405764	chr9:86501130-86501131	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2780168	chr9:86501136-86501137	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2780169	chr9:86501146-86501147	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560397604	chr9:86501164-86501165	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149190056	chr9:86501168-86501169	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561715016	chr9:86501241-86501242	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35894299	chr9:86501248-86501249	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs397835023	chr9:86501256-86501257	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2780170	chr9:86501292-86501293	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572835309	chr9:86501294-86501295	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189268620	chr9:86501311-86501312	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540338442	chr9:86501336-86501337	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573711980	chr9:86501347-86501348	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2780171	chr9:86501349-86501350	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573507332	chr9:86501416-86501417	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374744017	chr9:86501425-86501426	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145736910	chr9:86501445-86501446	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542882320	chr9:86501449-86501450	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562158967	chr9:86501584-86501585	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140154095	chr9:86501606-86501607	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112253439	chr9:86501646-86501647	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111701053	chr9:86501654-86501655	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111289904	chr9:86501662-86501663	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112841722	chr9:86501668-86501669	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs60530960	chr9:86501682-86501683	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531276429	chr9:86501712-86501713	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549292063	chr9:86501763-86501764	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532858647	chr9:86501764-86501765	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373568120	chr9:86501776-86501777	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567885386	chr9:86501781-86501782	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534778119	chr9:86501881-86501882	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547093117	chr9:86501893-86501894	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571503633	chr9:86501942-86501943	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150902888	chr9:86501983-86501984	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139434047	chr9:86501992-86501993	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543373060	chr9:86502015-86502016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541364399	chr9:86502037-86502038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138059115	chr9:86502046-86502047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192130800	chr9:86502050-86502051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554432970	chr9:86502073-86502074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573015713	chr9:86502076-86502077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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:97 , 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	chr9:86499400-86501600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:86499400-86518200	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:86499400-86535000	Weak transcription	Fetal Kidney	kidney
27	chr9:86499800-86501400	Enhancers	HUVEC	blood vessel
28	chr9:86499800-86501800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:86499800-86501800	Enhancers	HMEC	breast
30	chr9:86499800-86523200	Weak transcription	Fetal Thymus	thymus
31	chr9:86500000-86501400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:86500000-86501800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:86500000-86501800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:86500000-86534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:86500200-86501200	Enhancers	NH-A	brain
36	chr9:86500200-86501400	Enhancers	A549	lung
37	chr9:86500200-86501800	Enhancers	NHEK	skin
38	chr9:86500200-86521200	Weak transcription	Adipose Nuclei	Adipose
39	chr9:86500200-86521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr9:86500200-86535200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:86500200-86535200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr9:86500200-86535600	Weak transcription	Lung	lung
43	chr9:86500400-86501800	Enhancers	Hela-S3	cervix
44	chr9:86500600-86501800	Strong transcription	Fetal Lung	lung
45	chr9:86500600-86502000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:86500600-86503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:86500800-86501000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:86500800-86501200	Enhancers	HepG2	liver
49	chr9:86500800-86501400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr9:86500800-86501600	Enhancers	Osteobl	bone

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