Variant report

Variant	nsv900406
Chromosome Location	chr13:67434161-67532205
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:15)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
2	chr13:67499121..67501052-chr13:67506413..67508246,2	K562	blood:
3	chr13:67483833..67485636-chr13:67488451..67490558,2	MCF-7	breast:
4	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:
5	chr13:67455570..67458044-chr13:67459396..67461929,2	MCF-7	breast:
6	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
7	chr13:67437418..67439470-chr13:67442003..67443610,2	MCF-7	breast:
8	chr13:67499121..67501052-chr13:67506413..67508246,2	K562	blood:
9	chr13:67437418..67439470-chr13:67442003..67443610,2	MCF-7	breast:
10	chr13:67455570..67458044-chr13:67459396..67461929,2	MCF-7	breast:
11	chr13:67483833..67485636-chr13:67488451..67490558,2	MCF-7	breast:
12	chr13:67503858..67504708-chr5:34924011..34924781,2	Hela-S3	cervix:
13	chr13:67397391..67400012-chr13:67432704..67434627,2	K562	blood:
14	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:
15	chr13:67517858..67520029-chr13:67533541..67536022,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-14	chr13:67460132-67460209	ENSG00000228842.1
2	lnc-AL445989.1-14	chr13:67517880-67518119	NONHSAT034214
3	lnc-AL445989.1-14	chr13:67488530-67488618	NONHSAT034214
4	lnc-AL445989.1-14	chr13:67450976-67451051	ENSG00000228842.2
5	lnc-AL445989.1-14	chr13:67489069-67489163	ENSG00000228842.2
6	lnc-AL445989.1-14	chr13:67484006-67484154	NONHSAT034214
7	lnc-AL445989.1-14	chr13:67488530-67488618	ENSG00000228842.1
8	lnc-AL445989.1-14	chr13:67450976-67451051	ENSG00000228842.1
9	lnc-AL445989.1-14	chr13:67460132-67460208	ENSG00000228842.2
10	lnc-AL445989.1-14	chr13:67488530-67488618	ENSG00000228842.2
11	lnc-AL445989.1-14	chr13:67489069-67489163	ENSG00000228842.1

No data

Variant related genes	Relation type
ENSG00000228842	chromatin interactions

Extended variants
information (count: 2991 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2991 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9564355	chr13:67434161-67434162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567851878	chr13:67434165-67434166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147554525	chr13:67434222-67434223	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567974538	chr13:67434240-67434241	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180888902	chr13:67434254-67434255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546957408	chr13:67434303-67434304	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566892715	chr13:67434311-67434312	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185398862	chr13:67434378-67434379	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558628854	chr13:67434423-67434424	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568969663	chr13:67434424-67434425	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536323545	chr13:67434443-67434444	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141977929	chr13:67434512-67434513	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535273449	chr13:67434539-67434540	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556782591	chr13:67434635-67434636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573730441	chr13:67434730-67434731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145806352	chr13:67434763-67434764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552955932	chr13:67434808-67434809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572814730	chr13:67434835-67434836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544976542	chr13:67434841-67434842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564984165	chr13:67434859-67434860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190802774	chr13:67434896-67434897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112249617	chr13:67434898-67434899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554839696	chr13:67434904-67434905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544323259	chr13:67434909-67434910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61448207	chr13:67434970-67434971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114789904	chr13:67435029-67435030	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547288203	chr13:67435037-67435038	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567025178	chr13:67435049-67435050	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532546518	chr13:67435074-67435075	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552193974	chr13:67435090-67435091	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554577827	chr13:67435096-67435097	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568907075	chr13:67435130-67435131	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113115397	chr13:67435174-67435175	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537975732	chr13:67435198-67435199	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554625774	chr13:67435240-67435241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567466693	chr13:67435278-67435279	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536030113	chr13:67435314-67435315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs376314122	chr13:67435331-67435332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149284514	chr13:67435351-67435352	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181717501	chr13:67435355-67435356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs572931954	chr13:67435358-67435359	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377393192	chr13:67435383-67435384	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187088289	chr13:67435390-67435391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574717271	chr13:67435404-67435405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540567510	chr13:67435409-67435410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575291443	chr13:67435423-67435424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9529149	chr13:67435462-67435463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544359331	chr13:67435466-67435467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565023613	chr13:67435490-67435491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560788163	chr13:67435550-67435551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67429600-67434800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:67430000-67434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:67430200-67434200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:67431800-67436000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:67432600-67434200	Weak transcription	A549	lung
6	chr13:67432600-67435400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:67433200-67435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:67433200-67435200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:67433200-67435200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:67433200-67435400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:67433200-67435400	Enhancers	Brain Substantia Nigra	brain
12	chr13:67433400-67434200	Enhancers	HUVEC	blood vessel
13	chr13:67433400-67435400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:67433400-67435400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:67433400-67435400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:67433400-67435400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:67433400-67436600	Enhancers	Brain Hippocampus Middle	brain
18	chr13:67433600-67434800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:67433800-67435600	Enhancers	Brain Angular Gyrus	brain
20	chr13:67433800-67435600	Enhancers	Brain Cingulate Gyrus	brain
21	chr13:67433800-67435800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr13:67433800-67438600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:67434000-67434600	Enhancers	Brain Germinal Matrix	brain
24	chr13:67434000-67435000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:67434000-67435200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:67434000-67435400	Enhancers	Brain Anterior Caudate	brain
27	chr13:67434200-67434600	Weak transcription	HUVEC	blood vessel
28	chr13:67434200-67435000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr13:67434200-67435000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr13:67434200-67435000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:67434200-67435200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:67434200-67435200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:67434200-67435200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr13:67434200-67435400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:67434200-67435400	Enhancers	A549	lung
36	chr13:67434400-67434800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:67434400-67435000	Enhancers	Adipose Nuclei	Adipose
38	chr13:67434400-67435200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:67434400-67435200	Enhancers	Fetal Stomach	stomach
40	chr13:67434400-67435200	Enhancers	Psoas Muscle	Psoas
41	chr13:67434400-67435400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:67434400-67435400	Enhancers	Fetal Heart	heart
43	chr13:67434400-67435400	Enhancers	Fetal Muscle Leg	muscle
44	chr13:67434400-67435600	Enhancers	Right Atrium	heart
45	chr13:67434600-67435000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:67434600-67435000	Enhancers	Fetal Kidney	kidney
47	chr13:67434600-67435000	Enhancers	Left Ventricle	heart
48	chr13:67434600-67435000	Enhancers	HUVEC	blood vessel
49	chr13:67434600-67435400	Enhancers	Colon Smooth Muscle	Colon
50	chr13:67434600-67438400	Weak transcription	Brain Germinal Matrix	brain

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