Variant report

Variant	esv2752310
Chromosome Location	chr9:7260390-7390841
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:8)
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	chr9:7093984..7094670-chr9:7259334..7260480,4	MCF-7	breast:
2	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
3	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
4	chr13:72439560..72440061-chr9:7288393..7288893,2	NB4	blood:
5	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
6	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
7	chr9:7052698..7053251-chr9:7360197..7360994,2	K562	blood:
8	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
9	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
10	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf123-9	chr9:7335933-7336064	l_3732_chr9:7334596-7336064_thyroid
2	lnc-KDM4C-6	chr9:7343265-7343465	XLOC_007278
3	lnc-KDM4C-6	chr9:7304600-7304683	XLOC_007278
4	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640
5	lnc-C9orf123-9	chr9:7335540-7335590	l_3732_chr9:7334596-7336064_thyroid
6	lnc-KDM4C-6	chr9:7327926-7328132	XLOC_007278
7	lnc-C9orf123-5	chr9:7344597-7345051	XLOC_007640
8	lnc-C9orf123-9	chr9:7334597-7335051	l_3732_chr9:7334596-7336064_thyroid

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 5848 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:5848 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2820950	chr9:7260390-7260391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188298482	chr9:7260416-7260417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371210762	chr9:7260430-7260431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180768143	chr9:7260469-7260470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532565447	chr9:7260477-7260478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544266967	chr9:7260515-7260516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374322912	chr9:7260536-7260537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530714808	chr9:7260538-7260539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564545993	chr9:7260543-7260544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549166194	chr9:7260650-7260651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565418292	chr9:7260700-7260701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567082297	chr9:7260715-7260716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111326768	chr9:7260720-7260721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572567833	chr9:7260727-7260728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546261746	chr9:7260740-7260741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187505175	chr9:7260751-7260752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538667996	chr9:7260777-7260778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556677972	chr9:7260789-7260790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543754003	chr9:7260805-7260806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569537388	chr9:7260812-7260813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146217196	chr9:7260821-7260822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191837989	chr9:7260837-7260838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555214291	chr9:7260841-7260842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573444181	chr9:7260903-7260904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370734571	chr9:7260914-7260915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559126425	chr9:7260989-7260990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577259745	chr9:7260996-7260997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367811839	chr9:7261036-7261037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544642372	chr9:7261054-7261055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562696582	chr9:7261063-7261064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530845733	chr9:7261064-7261065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542479727	chr9:7261100-7261101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560770867	chr9:7261120-7261121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528299735	chr9:7261130-7261131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562794951	chr9:7261149-7261150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546375735	chr9:7261152-7261153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530290707	chr9:7261154-7261155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531603684	chr9:7261165-7261166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115033778	chr9:7261181-7261182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567207348	chr9:7261200-7261201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550560374	chr9:7261205-7261206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568723338	chr9:7261214-7261215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7025206	chr9:7261221-7261222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540430493	chr9:7261245-7261246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555328490	chr9:7261266-7261267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142563170	chr9:7261338-7261339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146012828	chr9:7261363-7261364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559194412	chr9:7261375-7261376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145268730	chr9:7261386-7261387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548442284	chr9:7261399-7261400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7253200-7266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:7258800-7260600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:7259400-7261200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:7260600-7261000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:7264400-7265200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:7264800-7265800	Enhancers	Fetal Brain Male	brain
7	chr9:7264800-7268600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:7265000-7265200	Enhancers	Fetal Kidney	kidney
9	chr9:7265000-7267800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:7265000-7268800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:7265200-7267400	Weak transcription	Fetal Kidney	kidney
12	chr9:7265400-7265600	Enhancers	Brain Germinal Matrix	brain
13	chr9:7265600-7267800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr9:7265800-7266800	Weak transcription	Brain Germinal Matrix	brain
15	chr9:7265800-7266800	Weak transcription	Fetal Brain Male	brain
16	chr9:7266400-7267400	Enhancers	Brain Substantia Nigra	brain
17	chr9:7266400-7267600	Enhancers	Fetal Brain Female	brain
18	chr9:7266400-7267800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:7266600-7267200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:7266600-7267200	Enhancers	Brain Angular Gyrus	brain
21	chr9:7266600-7267200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr9:7266600-7267400	Enhancers	Brain Anterior Caudate	brain
23	chr9:7266600-7267600	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:7266600-7267600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:7266600-7267600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr9:7266600-7267800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:7266800-7267000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:7266800-7267000	Enhancers	Brain Hippocampus Middle	brain
29	chr9:7266800-7267000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr9:7266800-7267200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:7266800-7267200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:7266800-7267400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:7266800-7267400	Enhancers	Brain Germinal Matrix	brain
34	chr9:7266800-7267600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:7266800-7267600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:7266800-7267600	Enhancers	Fetal Brain Male	brain
37	chr9:7266800-7267800	Enhancers	Fetal Intestine Large	intestine
38	chr9:7266800-7268000	Enhancers	Fetal Intestine Small	intestine
39	chr9:7266800-7268000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr9:7267000-7267400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:7267000-7267400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr9:7267000-7267800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:7267200-7268200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:7267400-7267600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:7267400-7267600	Enhancers	Brain Hippocampus Middle	brain
46	chr9:7267400-7269600	Enhancers	Fetal Kidney	kidney
47	chr9:7267600-7269400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr9:7268200-7268600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:7268600-7268800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:7269600-7274000	Weak transcription	Fetal Kidney	kidney

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