Variant report

Variant	esv3326886
Chromosome Location	chr9:116417931-116422229
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116410830..116412902-chr9:116418886..116421304,2	MCF-7	breast:
2	chr9:116208195..116209184-chr9:116417637..116418287,4	MCF-7	breast:
3	chr9:116353637..116354753-chr9:116417023..116418365,35	MCF-7	breast:
4	chr9:116352986..116356030-chr9:116417056..116419740,3	MCF-7	breast:
5	chr9:116071324..116072067-chr9:116420288..116420934,2	MCF-7	breast:
6	chr9:116353834..116354605-chr9:116419925..116420881,6	MCF-7	breast:
7	chr9:116036423..116037332-chr9:116419975..116420491,2	K562	blood:
8	chr9:116036369..116037533-chr9:116417343..116418092,4	K562	blood:
9	chr9:116355511..116356119-chr9:116417442..116418047,2	MCF-7	breast:
10	chr9:116409796..116412169-chr9:116418517..116420512,2	MCF-7	breast:
11	chr9:116352358..116352865-chr9:116419481..116420213,2	MCF-7	breast:
12	chr9:116353664..116354880-chr9:116419965..116420903,13	MCF-7	breast:
13	chr9:116208196..116208729-chr9:116419915..116420419,2	K562	blood:
14	chr9:116331552..116333481-chr9:116417834..116420426,2	K562	blood:
15	chr9:116163598..116164314-chr9:116419979..116420889,5	MCF-7	breast:
16	chr9:116420136..116422934-chr9:116424938..116428259,3	K562	blood:
17	chr9:116171892..116172716-chr9:116419991..116420576,3	MCF-7	breast:
18	chr9:116166447..116168138-chr9:116418016..116420140,2	MCF-7	breast:
19	chr9:116036462..116038120-chr9:116415759..116418139,2	K562	blood:
20	chr9:116208070..116209251-chr9:116419965..116420855,5	MCF-7	breast:
21	chr9:116419739..116422322-chr9:116424476..116427451,2	K562	blood:
22	chr9:116353625..116354642-chr9:116417382..116418475,19	MCF-7	breast:
23	chr9:116352994..116354643-chr9:116419596..116420916,16	K562	blood:
24	chr9:116353759..116354517-chr9:116418655..116419465,2	K562	blood:
25	chr9:116036620..116038894-chr9:116416639..116419058,2	K562	blood:
26	chr9:116358642..116361226-chr9:116416793..116418953,2	MCF-7	breast:
27	chr9:116412820..116415638-chr9:116416237..116418509,2	K562	blood:
28	chr9:116342253..116346123-chr9:116415296..116418266,3	MCF-7	breast:
29	chr9:116173018..116174761-chr9:116419577..116421827,2	MCF-7	breast:
30	chr9:116419179..116421733-chr9:116422325..116423904,2	MCF-7	breast:
31	chr9:116036759..116038980-chr9:116416097..116418826,3	MCF-7	breast:
32	chr9:116208340..116209763-chr9:116417344..116418625,9	MCF-7	breast:
33	chr9:116163315..116164239-chr9:116419910..116420704,3	K562	blood:
34	chr9:116393296..116396126-chr9:116417264..116418987,2	MCF-7	breast:
35	chr9:116301103..116303347-chr9:116416136..116418556,2	MCF-7	breast:
36	chr9:116353846..116356462-chr9:116416610..116418742,2	K562	blood:
37	chr9:116236389..116238699-chr9:116416514..116418989,2	MCF-7	breast:
38	chr9:116207957..116209207-chr9:116417121..116418431,8	K562	blood:
39	chr9:116198894..116199696-chr9:116419927..116420485,2	K562	blood:
40	chr9:116348055..116356711-chr9:116416824..116421069,13	MCF-7	breast:
41	chr9:116420295..116422298-chr9:116424343..116426140,2	MCF-7	breast:
42	chr9:116170697..116173619-chr9:116417957..116421147,3	MCF-7	breast:
43	chr9:116353627..116354618-chr9:116417225..116418348,10	K562	blood:
44	chr9:116419937..116420664-chr9:116444300..116444924,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227482	chromatin interactions
ENSG00000237073	chromatin interactions
ENSG00000148229	chromatin interactions
ENSG00000136875	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000148218	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000138835	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575898414	chr9:116417960-116417961	Weak transcription Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs541707745	chr9:116417965-116417966	Weak transcription Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs112629356	chr9:116418041-116418042	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs148482507	chr9:116418048-116418049	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs541228924	chr9:116418076-116418077	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs367846951	chr9:116418099-116418100	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs371997774	chr9:116418107-116418108	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs563978818	chr9:116418114-116418115	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs542009571	chr9:116418115-116418116	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs142648062	chr9:116418181-116418182	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs543405995	chr9:116418182-116418183	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs150937178	chr9:116418195-116418196	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs528926810	chr9:116418201-116418202	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs140829772	chr9:116418202-116418203	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs566406245	chr9:116418223-116418224	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs188564228	chr9:116418271-116418272	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs528639395	chr9:116418272-116418273	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs181327628	chr9:116418288-116418289	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs144596430	chr9:116418289-116418290	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs537165580	chr9:116418342-116418343	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs146707948	chr9:116418343-116418344	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs567318117	chr9:116418350-116418351	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs554013900	chr9:116418372-116418373	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs555200677	chr9:116418434-116418435	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs140288584	chr9:116418467-116418468	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs150246542	chr9:116418469-116418470	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs557946328	chr9:116418483-116418484	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs139787515	chr9:116418497-116418498	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs577793481	chr9:116418510-116418511	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs111327073	chr9:116418517-116418518	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs563422376	chr9:116418660-116418661	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs573672459	chr9:116418677-116418678	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs542657200	chr9:116418731-116418732	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs572131037	chr9:116418748-116418749	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs138871458	chr9:116418765-116418766	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs528803636	chr9:116418766-116418767	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs551649816	chr9:116418858-116418859	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs1077072	chr9:116418881-116418882	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564256861	chr9:116418898-116418899	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs531039274	chr9:116418973-116418974	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs552429693	chr9:116419022-116419023	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs112024699	chr9:116419027-116419028	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs567429302	chr9:116419035-116419036	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs117591210	chr9:116419058-116419059	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs546993299	chr9:116419075-116419076	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs565798315	chr9:116419121-116419122	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs373185795	chr9:116419202-116419203	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs557793265	chr9:116419211-116419212	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs369239859	chr9:116419237-116419238	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs79223959	chr9:116419254-116419255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116411600-116420000	Weak transcription	Fetal Brain Female	brain
2	chr9:116412800-116420000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:116413400-116419000	Enhancers	HepG2	liver
4	chr9:116413400-116419800	Weak transcription	Fetal Kidney	kidney
5	chr9:116413400-116420000	Weak transcription	Gastric	stomach
6	chr9:116414000-116419400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:116414000-116420600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:116414800-116418200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:116415000-116418000	Enhancers	Right Atrium	heart
10	chr9:116415000-116418200	Enhancers	Right Ventricle	heart
11	chr9:116415400-116420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:116415800-116418200	Enhancers	Fetal Muscle Trunk	muscle
13	chr9:116415800-116421000	Enhancers	Fetal Muscle Leg	muscle
14	chr9:116416000-116418000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:116416200-116418200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr9:116416200-116418400	Enhancers	Fetal Stomach	stomach
17	chr9:116416200-116422200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr9:116416600-116418000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:116416600-116418200	Enhancers	Adipose Nuclei	Adipose
20	chr9:116416600-116418200	Enhancers	Pancreas	Pancrea
21	chr9:116416600-116420800	Enhancers	Spleen	Spleen
22	chr9:116417200-116418000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:116417200-116418200	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:116417400-116418000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:116417400-116418000	Enhancers	Fetal Thymus	thymus
26	chr9:116417600-116419200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:116417600-116419600	Weak transcription	Psoas Muscle	Psoas
28	chr9:116417600-116420600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:116417800-116418000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:116417800-116418000	Enhancers	Rectal Smooth Muscle	rectum
31	chr9:116417800-116418000	Enhancers	Stomach Smooth Muscle	stomach
32	chr9:116417800-116418600	Weak transcription	Lung	lung
33	chr9:116417800-116418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:116417800-116418800	Weak transcription	Placenta	Placenta
35	chr9:116417800-116418800	Weak transcription	Ovary	ovary
36	chr9:116417800-116419000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:116417800-116419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:116417800-116419400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:116417800-116419400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:116417800-116419400	Weak transcription	Liver	Liver
41	chr9:116417800-116419400	Weak transcription	Fetal Heart	heart
42	chr9:116417800-116419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:116417800-116419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:116417800-116419600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:116417800-116419600	Weak transcription	Fetal Intestine Small	intestine
46	chr9:116417800-116419600	Weak transcription	Fetal Lung	lung
47	chr9:116417800-116419600	Weak transcription	Left Ventricle	heart
48	chr9:116417800-116419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:116417800-116419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:116417800-116419800	Weak transcription	Brain Anterior Caudate	brain

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