Variant report

Variant	nsv878985
Chromosome Location	chr4:45745877-45892423
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:1)
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	chr4:45871736..45873676-chr4:45875585..45877593,2	K562	blood:
2	chr4:45870299..45872287-chr4:45880664..45882476,2	K562	blood:
3	chr4:45871736..45873676-chr4:45875585..45877593,2	K562	blood:
4	chr4:45884022..45886889-chr4:45891193..45894210,3	K562	blood:
5	chr4:45884022..45886889-chr4:45891193..45894210,3	K562	blood:
6	chr4:45870299..45872287-chr4:45880664..45882476,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABRG1-1	chr4:45810636-45810670	XLOC_003943

No data

Variant related genes	Relation type
TCF12	miRNA target sites

Extended variants
information (count: 1562 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1562 , 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	rs556660890	chr4:45753005-45753006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375526578	chr4:45753041-45753042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148187069	chr4:45753064-45753065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535438867	chr4:45753068-45753069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554135479	chr4:45753076-45753077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557072631	chr4:45753100-45753101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528132087	chr4:45753109-45753110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546577338	chr4:45753134-45753135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199953117	chr4:45753182-45753183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191116463	chr4:45753220-45753221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543915142	chr4:45753232-45753233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575292917	chr4:45753263-45753264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182960417	chr4:45753362-45753363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574377358	chr4:45753413-45753414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541505875	chr4:45753485-45753486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141175213	chr4:45753491-45753492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528005010	chr4:45753505-45753506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146269722	chr4:45753579-45753580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138135633	chr4:45753585-45753586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531902169	chr4:45753641-45753642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550303447	chr4:45753676-45753677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13115064	chr4:45753677-45753678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373371947	chr4:45753680-45753681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199949016	chr4:45753729-45753730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535937779	chr4:45753782-45753783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573866107	chr4:45753783-45753784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142509939	chr4:45753822-45753823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571476065	chr4:45753829-45753830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566039958	chr4:45753851-45753852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113259176	chr4:45753854-45753855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185835759	chr4:45753911-45753912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541348328	chr4:45753922-45753923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191091977	chr4:45753947-45753948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183231713	chr4:45753949-45753950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537600760	chr4:45753957-45753958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555936453	chr4:45753960-45753961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574488148	chr4:45754020-45754021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74951460	chr4:45754024-45754025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187518837	chr4:45754028-45754029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571974558	chr4:45754032-45754033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76720359	chr4:45754036-45754037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564725845	chr4:45754072-45754073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192326398	chr4:45754079-45754080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73239692	chr4:45754137-45754138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373360835	chr4:45754144-45754145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540155643	chr4:45754145-45754146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376628716	chr4:45754204-45754205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545013201	chr4:45754219-45754220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554041394	chr4:45754227-45754228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150004063	chr4:45754235-45754236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45753000-45754200	Enhancers	Colon Smooth Muscle	Colon
2	chr4:45753000-45755400	Enhancers	Fetal Lung	lung
3	chr4:45753400-45753800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:45753400-45755800	Enhancers	Fetal Heart	heart
5	chr4:45753800-45755200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:45755200-45755400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr4:45763400-45763800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:45766600-45767400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:45766600-45769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:45767200-45767800	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:45767200-45768800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:45767400-45767600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:45767600-45767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:45767800-45768000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:45767800-45768200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:45768000-45769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:45768200-45768600	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:45768800-45773000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:45769000-45778000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:45772800-45773200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:45773000-45773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:45773000-45773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:45773000-45773600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:45773200-45773400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:45777600-45778600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:45778000-45778600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:45795600-45797800	Enhancers	Colon Smooth Muscle	Colon
28	chr4:45797200-45798200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:45797400-45798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:45797600-45798200	Enhancers	Ovary	ovary
31	chr4:45797600-45798200	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:45797600-45798400	Enhancers	Fetal Stomach	stomach
33	chr4:45798200-45801000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:45801000-45801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:45823400-45823600	Enhancers	Spleen	Spleen
36	chr4:45823400-45823800	ZNF genes & repeats	Gastric	stomach
37	chr4:45829000-45829600	Enhancers	Fetal Heart	heart
38	chr4:45838400-45838800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:45842800-45843600	Enhancers	Fetal Heart	heart
40	chr4:45842800-45843800	Enhancers	Fetal Lung	lung
41	chr4:45843000-45843600	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:45843200-45845800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:45847400-45849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:45847800-45849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:45858000-45858600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:45858600-45859800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:45862600-45865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:45863200-45863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:45863200-45867800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:45863800-45864200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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