Variant report

Variant	nsv1032100
Chromosome Location	chr9:2720207-2766110
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2717251..2720244-chr9:2720440..2722938,2	MCF-7	breast:
2	chr9:2758593..2762360-chr9:2765303..2768910,5	K562	blood:
3	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
4	chr9:2729748..2733202-chr9:2733269..2736748,3	MCF-7	breast:
5	chr9:2748687..2751294-chr9:2757879..2760318,3	MCF-7	breast:
6	chr9:2729748..2733202-chr9:2733269..2736748,3	MCF-7	breast:
7	chr9:2748687..2751294-chr9:2757879..2760318,3	MCF-7	breast:
8	chr9:2739072..2739783-chr9:2800448..2801064,2	MCF-7	breast:
9	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
10	chr9:2758593..2762360-chr9:2765303..2768910,5	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFX3-4	chr9:2759256-2760832	NONHSAT130008
2	lnc-KCNV2-4	chr9:2763773-2763907	NONHSAT130009

No data

Variant related genes	Relation type
ENSG00000168263	chromatin interactions

Extended variants
information (count: 2309 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2309 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149109807	chr9:2720219-2720220	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143203784	chr9:2720236-2720237	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573397044	chr9:2720297-2720298	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542419975	chr9:2720317-2720318	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556030962	chr9:2720334-2720335	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575840561	chr9:2720348-2720349	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544934501	chr9:2720366-2720367	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13285989	chr9:2720369-2720370	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs551605607	chr9:2720375-2720376	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202090352	chr9:2720382-2720383	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80105947	chr9:2720383-2720384	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376750394	chr9:2720384-2720385	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112837567	chr9:2720388-2720389	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532899025	chr9:2720391-2720392	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148241003	chr9:2720393-2720394	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141303911	chr9:2720424-2720425	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528980111	chr9:2720425-2720426	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7865112	chr9:2720461-2720462	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148973004	chr9:2720468-2720469	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35262194	chr9:2720472-2720473	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568749842	chr9:2720480-2720481	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531411653	chr9:2720503-2720504	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571426337	chr9:2720508-2720509	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7847058	chr9:2720547-2720548	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539795846	chr9:2720567-2720568	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572857649	chr9:2720577-2720578	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547044956	chr9:2720580-2720581	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187395995	chr9:2720591-2720592	Weak transcription Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73639028	chr9:2720600-2720601	Weak transcription Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7875691	chr9:2720635-2720636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575746055	chr9:2720645-2720646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111915772	chr9:2720672-2720673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576656936	chr9:2720676-2720677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558395238	chr9:2720688-2720689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs16909365	chr9:2720701-2720702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7875791	chr9:2720729-2720730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559748037	chr9:2720780-2720781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573390559	chr9:2720834-2720835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542269295	chr9:2720863-2720864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562455036	chr9:2720869-2720870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531500261	chr9:2720874-2720875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561035478	chr9:2720890-2720891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529928731	chr9:2720905-2720906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10967726	chr9:2720949-2720950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7849738	chr9:2721018-2721019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376589874	chr9:2721050-2721051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527626041	chr9:2721059-2721060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150872480	chr9:2721126-2721127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547009984	chr9:2721142-2721143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542160265	chr9:2721157-2721158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Renal cell carcinoma	21215367	CNVD
Cancer	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

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	chr9:2718000-2720400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
19	chr9:2718200-2722800	Weak transcription	Adipose Nuclei	Adipose
20	chr9:2718400-2722800	Weak transcription	Fetal Lung	lung
21	chr9:2718400-2728200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:2718600-2722600	Weak transcription	HMEC	breast
23	chr9:2718600-2722800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:2719000-2721400	Enhancers	HepG2	liver
25	chr9:2719000-2722600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:2719000-2722600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:2719000-2722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:2719000-2722800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:2719000-2722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:2719000-2725400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:2719000-2726400	Weak transcription	Fetal Brain Male	brain
32	chr9:2719000-2726600	Weak transcription	Esophagus	oesophagus
33	chr9:2719000-2727800	Weak transcription	Gastric	stomach
34	chr9:2719200-2722600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:2719200-2722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:2719200-2722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:2719200-2722800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:2719200-2722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:2719200-2722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:2719200-2722800	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:2719200-2722800	Weak transcription	Fetal Stomach	stomach
42	chr9:2719200-2726600	Weak transcription	NHLF	lung
43	chr9:2719200-2727800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:2719200-2768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr9:2719200-2768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:2719400-2720600	Strong transcription	Primary T cells from cord blood	blood
47	chr9:2719400-2722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:2719400-2722600	Weak transcription	NHEK	skin
49	chr9:2719600-2720600	Enhancers	Fetal Kidney	kidney
50	chr9:2719600-2720800	Enhancers	Liver	Liver

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