Variant report

Variant	esv3405940
Chromosome Location	chr13:95618976-95621724
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	chr13:95619254..95622585-chr13:95624903..95627476,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-6	chr13:95620881-95621161	NONHSAT034746

Extended variants
information (count: 86 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188204006	chr13:95619012-95619013	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192960730	chr13:95619099-95619100	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552206811	chr13:95619171-95619172	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568968995	chr13:95619318-95619319	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537692748	chr13:95619331-95619332	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148106532	chr13:95619358-95619359	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78180213	chr13:95619479-95619480	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs67737660	chr13:95619480-95619481	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs58698389	chr13:95619481-95619482	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs373453353	chr13:95619518-95619519	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs554318917	chr13:95619521-95619522	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs551889943	chr13:95619523-95619524	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs570205494	chr13:95619524-95619525	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs568046866	chr13:95619559-95619560	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs533801049	chr13:95619579-95619580	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs567963561	chr13:95619593-95619594	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs535775010	chr13:95619594-95619595	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs55896076	chr13:95619609-95619610	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150411652	chr13:95619622-95619623	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11843668	chr13:95619685-95619686	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559049187	chr13:95619710-95619711	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531237950	chr13:95619722-95619723	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575647494	chr13:95619737-95619738	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34926569	chr13:95619777-95619778	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561453386	chr13:95619787-95619788	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368345150	chr13:95619800-95619801	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530433440	chr13:95619868-95619869	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138123486	chr13:95619903-95619904	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111571502	chr13:95619913-95619914	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9590148	chr13:95619914-95619915	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532094075	chr13:95619937-95619938	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551879173	chr13:95619952-95619953	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568958256	chr13:95620016-95620017	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531288328	chr13:95620039-95620040	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547995292	chr13:95620044-95620045	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567884615	chr13:95620051-95620052	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545542807	chr13:95620062-95620063	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533837181	chr13:95620065-95620066	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553992583	chr13:95620115-95620116	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570646263	chr13:95620133-95620134	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539071056	chr13:95620222-95620223	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558658352	chr13:95620242-95620243	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372606212	chr13:95620329-95620330	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544683737	chr13:95620333-95620334	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112411680	chr13:95620384-95620385	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575042315	chr13:95620398-95620399	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114132567	chr13:95620435-95620436	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149646196	chr13:95620446-95620447	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74815168	chr13:95620448-95620449	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75501655	chr13:95620449-95620450	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95616400-95619600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:95617800-95619200	Enhancers	Stomach Mucosa	stomach
3	chr13:95618000-95619000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:95618000-95619400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr13:95618000-95619400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr13:95618400-95619400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:95618400-95619400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:95618400-95619600	Enhancers	Brain Germinal Matrix	brain
9	chr13:95618400-95619600	Bivalent Enhancer	Brain Hippocampus Middle	brain
10	chr13:95618600-95619000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr13:95618600-95619200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:95618600-95619600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:95618800-95619000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr13:95618800-95619000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr13:95618800-95619000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:95618800-95619000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr13:95618800-95619000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:95618800-95619000	Bivalent Enhancer	Brain Anterior Caudate	brain
19	chr13:95618800-95619000	Enhancers	Brain Substantia Nigra	brain
20	chr13:95618800-95619000	Enhancers	Gastric	stomach
21	chr13:95618800-95619000	Enhancers	Pancreas	Pancrea
22	chr13:95618800-95619200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr13:95618800-95619400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr13:95618800-95619400	Enhancers	A549	lung
25	chr13:95618800-95619600	Enhancers	Brain Cingulate Gyrus	brain
26	chr13:95619000-95619200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:95619000-95619200	Bivalent Enhancer	Brain Angular Gyrus	brain
28	chr13:95619000-95619200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:95619000-95619400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:95619000-95619400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
31	chr13:95619000-95619600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:95619000-95619600	Weak transcription	Pancreas	Pancrea
33	chr13:95619200-95619400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95619200-95619400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:95619200-95619600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr13:95619200-95619600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:95619200-95619600	Weak transcription	Brain Substantia Nigra	brain
38	chr13:95619200-95620200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
39	chr13:95619400-95619600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:95619400-95619600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr13:95619400-95619600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:95619400-95619600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:95619400-95619800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr13:95619400-95619800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr13:95619400-95619800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr13:95619400-95619800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr13:95619400-95620000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr13:95619400-95621000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:95619400-95621200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:95619400-95621200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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