Variant report

Variant	esv35116
Chromosome Location	chr9:6769429-6798091
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:6765179..6766927-chr9:6770237..6771845,2	K562	blood:
2	chr9:6766833..6770674-chr9:6780008..6783723,3	K562	blood:
3	chr9:6680103..6682666-chr9:6784102..6786978,2	K562	blood:
4	chr9:6766833..6770674-chr9:6780008..6783723,3	K562	blood:
5	chr9:6757988..6759532-chr9:6768470..6771009,2	K562	blood:
6	chr9:6757021..6759532-chr9:6768470..6771017,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UHRF2-1	chr9:6780333-6780490	ENSG00000236563.1
2	lnc-UHRF2-1	chr9:6785601-6785929	ENSG00000236563.1

No data

Variant related genes	Relation type
ENSG00000107077	chromatin interactions

Extended variants
information (count: 1582 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7861740	chr9:6769429-6769430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534339387	chr9:6769446-6769447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559087161	chr9:6769448-6769449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570920086	chr9:6769454-6769455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550797263	chr9:6769505-6769506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538841911	chr9:6769591-6769592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545264869	chr9:6769621-6769622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs398087121	chr9:6769627-6769628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2990658	chr9:6769653-6769654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs575462483	chr9:6769676-6769677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7861972	chr9:6769692-6769693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576654092	chr9:6769742-6769743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112566391	chr9:6769746-6769747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7862111	chr9:6769762-6769763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539978232	chr9:6769769-6769770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564647803	chr9:6769786-6769787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146568796	chr9:6769803-6769804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11792238	chr9:6769808-6769809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563082241	chr9:6769809-6769810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530356533	chr9:6769855-6769856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141305674	chr9:6769908-6769909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566914254	chr9:6769909-6769910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562260199	chr9:6769952-6769953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552561119	chr9:6769967-6769968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572621426	chr9:6770008-6770009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150240872	chr9:6770028-6770029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145827249	chr9:6770072-6770073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7857692	chr9:6770078-6770079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143839066	chr9:6770085-6770086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190586190	chr9:6770101-6770102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554838548	chr9:6770160-6770161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182239671	chr9:6770177-6770178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112776757	chr9:6770205-6770206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370696220	chr9:6770207-6770208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143091624	chr9:6770214-6770215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554537757	chr9:6770215-6770216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs202070043	chr9:6770216-6770217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558101392	chr9:6770236-6770237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114203948	chr9:6770238-6770239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544275576	chr9:6770243-6770244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562988845	chr9:6770258-6770259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111565172	chr9:6770379-6770380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113009297	chr9:6770419-6770420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560774206	chr9:6770429-6770430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533137165	chr9:6770477-6770478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs60859094	chr9:6770529-6770530	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76571882	chr9:6770555-6770556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570841139	chr9:6770563-6770564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531738576	chr9:6770631-6770632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550244072	chr9:6770637-6770638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6759600-6782200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:6759800-6771800	Weak transcription	Ovary	ovary
3	chr9:6759800-6778800	Weak transcription	Psoas Muscle	Psoas
4	chr9:6759800-6780000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:6759800-6782800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:6760000-6774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:6761600-6771600	Weak transcription	Pancreas	Pancrea
8	chr9:6761800-6792800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:6763400-6775000	Weak transcription	Fetal Thymus	thymus
10	chr9:6763400-6775800	Weak transcription	Thymus	Thymus
11	chr9:6763600-6779200	Weak transcription	Primary B cells from cord blood	blood
12	chr9:6763600-6782800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:6764000-6769800	Weak transcription	Left Ventricle	heart
14	chr9:6764200-6771400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr9:6764200-6771600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:6764600-6779400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:6765000-6777400	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:6765200-6769600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:6765200-6771800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:6765200-6774800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:6765200-6779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:6765200-6780400	Weak transcription	Small Intestine	intestine
23	chr9:6765400-6769600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:6765400-6771600	Weak transcription	Fetal Intestine Small	intestine
25	chr9:6765400-6771800	Weak transcription	Brain Anterior Caudate	brain
26	chr9:6765400-6779200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr9:6765400-6779400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr9:6765600-6769600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:6765600-6782000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr9:6765800-6776400	Weak transcription	Primary T cells from cord blood	blood
31	chr9:6766000-6771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:6766000-6776000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr9:6766600-6771600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:6766800-6770000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr9:6767000-6771600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:6767000-6771600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:6767000-6771600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:6767000-6771600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:6767000-6771600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr9:6767000-6775800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:6767000-6776200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr9:6767000-6776800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr9:6767200-6771400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr9:6767200-6771600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:6767800-6776200	Weak transcription	Gastric	stomach
46	chr9:6767800-6776800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr9:6768200-6776000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:6768800-6769800	Enhancers	HepG2	liver
49	chr9:6768800-6777000	Weak transcription	GM12878-XiMat	blood
50	chr9:6769000-6769600	Weak transcription	Primary B cells from peripheral blood	blood

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