Variant report

Variant	esv3332256
Chromosome Location	chr9:2720752-2723650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2717251..2720244-chr9:2720440..2722938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168263	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559748037	chr9:2720780-2720781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573390559	chr9:2720834-2720835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542269295	chr9:2720863-2720864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562455036	chr9:2720869-2720870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531500261	chr9:2720874-2720875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561035478	chr9:2720890-2720891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529928731	chr9:2720905-2720906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10967726	chr9:2720949-2720950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7849738	chr9:2721018-2721019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376589874	chr9:2721050-2721051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527626041	chr9:2721059-2721060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150872480	chr9:2721126-2721127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547009984	chr9:2721142-2721143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542160265	chr9:2721157-2721158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12341673	chr9:2721164-2721165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12341676	chr9:2721179-2721180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549455893	chr9:2721180-2721181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569265270	chr9:2721199-2721200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538404633	chr9:2721200-2721201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73388724	chr9:2721219-2721220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10812526	chr9:2721249-2721250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566629593	chr9:2721261-2721262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534260645	chr9:2721273-2721274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12341721	chr9:2721290-2721291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368670832	chr9:2721297-2721298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs137968700	chr9:2721341-2721342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143527660	chr9:2721356-2721357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542232201	chr9:2721374-2721375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12341771	chr9:2721394-2721395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568518709	chr9:2721432-2721433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150508180	chr9:2721504-2721505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7850340	chr9:2721505-2721506	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7850344	chr9:2721513-2721514	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564976255	chr9:2721529-2721530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527583313	chr9:2721543-2721544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138410969	chr9:2721544-2721545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561174829	chr9:2721550-2721551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529268624	chr9:2721556-2721557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7866231	chr9:2721557-2721558	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527473169	chr9:2721587-2721588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371712647	chr9:2721593-2721594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551940812	chr9:2721595-2721596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571793641	chr9:2721599-2721600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112551780	chr9:2721622-2721623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs193023970	chr9:2721626-2721627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145185770	chr9:2721662-2721663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144853728	chr9:2721676-2721677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377264575	chr9:2721713-2721714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576080507	chr9:2721760-2721761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544826384	chr9:2721763-2721764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2697200-2722800	Weak transcription	HSMM	muscle
2	chr9:2700600-2727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:2701600-2727800	Weak transcription	Pancreas	Pancrea
4	chr9:2702000-2721400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:2702200-2722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:2702600-2722800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:2710000-2722800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:2710000-2723800	Weak transcription	HSMMtube	muscle
9	chr9:2712000-2722600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:2714800-2727800	Weak transcription	Ovary	ovary
11	chr9:2715600-2722800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:2715800-2727800	Weak transcription	Osteobl	bone
13	chr9:2716200-2729200	Weak transcription	Right Ventricle	heart
14	chr9:2716400-2727800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:2717000-2725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:2717400-2725200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
18	chr9:2718200-2722800	Weak transcription	Adipose Nuclei	Adipose
19	chr9:2718400-2722800	Weak transcription	Fetal Lung	lung
20	chr9:2718400-2728200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:2718600-2722600	Weak transcription	HMEC	breast
22	chr9:2718600-2722800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:2719000-2721400	Enhancers	HepG2	liver
24	chr9:2719000-2722600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:2719000-2722600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:2719000-2722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:2719000-2722800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:2719000-2722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:2719000-2725400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:2719000-2726400	Weak transcription	Fetal Brain Male	brain
31	chr9:2719000-2726600	Weak transcription	Esophagus	oesophagus
32	chr9:2719000-2727800	Weak transcription	Gastric	stomach
33	chr9:2719200-2722600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:2719200-2722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:2719200-2722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:2719200-2722800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:2719200-2722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:2719200-2722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:2719200-2722800	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:2719200-2722800	Weak transcription	Fetal Stomach	stomach
41	chr9:2719200-2726600	Weak transcription	NHLF	lung
42	chr9:2719200-2727800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:2719200-2768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:2719200-2768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:2719400-2722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:2719400-2722600	Weak transcription	NHEK	skin
47	chr9:2719600-2720800	Enhancers	Liver	Liver
48	chr9:2719600-2728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr9:2719800-2722800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:2720000-2727400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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