Variant report

Variant	nsv977707
Chromosome Location	chr15:45110592-45122696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45112947-45113068	K562	blood:	n/a	n/a
2	ATF1	chr15:45112841-45113209	K562	blood:	n/a	n/a
3	BHLHE40	chr15:45112806-45113087	K562	blood:	n/a	n/a
4	BHLHE40	chr15:45111516-45111681	K562	blood:	n/a	n/a
5	BHLHE40	chr15:45118895-45119140	HepG2	liver:	n/a	n/a
6	BHLHE40	chr15:45116583-45116784	HepG2	liver:	n/a	n/a
7	CBX3	chr15:45112638-45113072	K562	blood:	n/a	n/a
8	CCNT2	chr15:45112959-45113171	K562	blood:	n/a	n/a
9	CTCF	chr15:45116974-45117018	LNCaP	prostate:	n/a	n/a
10	CTCF	chr15:45120982-45121083	LNCaP	prostate:	n/a	n/a
11	CUX1	chr15:45113034-45113197	K562	blood:	n/a	n/a
12	EP300	chr15:45112780-45113483	K562	blood:	n/a	n/a
13	EP300	chr15:45121416-45121422	K562	blood:	n/a	n/a
14	FOSL2	chr15:45120636-45121094	HepG2	liver:	n/a	n/a
15	FOSL2	chr15:45114717-45115308	HepG2	liver:	n/a	n/a
16	FOSL2	chr15:45116389-45117304	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
17	FOSL2	chr15:45118895-45119133	HepG2	liver:	n/a	n/a
18	FOSL2	chr15:45120705-45121108	HepG2	liver:	n/a	n/a
19	FOSL2	chr15:45117823-45118083	HepG2	liver:	n/a	chr15:45117938-45117950 chr15:45117936-45117947 chr15:45117940-45117948 chr15:45117938-45117945
20	FOSL2	chr15:45116396-45117507	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
21	FOXA1	chr15:45118515-45118872	HepG2	liver:	n/a	chr15:45118744-45118756 chr15:45118654-45118666 chr15:45118658-45118670
22	FOXA1	chr15:45116235-45117346	HepG2	liver:	n/a	n/a
23	FOXA1	chr15:45120606-45121238	HepG2	liver:	n/a	n/a
24	FOXA2	chr15:45120698-45121223	A549	lung:	n/a	n/a
25	FOXA2	chr15:45120658-45121139	A549	lung:	n/a	n/a
26	FOXA2	chr15:45117046-45117197	HepG2	liver:	n/a	n/a
27	GATA1	chr15:45112224-45113646	K562	blood:	n/a	chr15:45112943-45112952 chr15:45112940-45112956 chr15:45113068-45113077
28	GATA2	chr15:45112733-45113210	K562	blood:	n/a	chr15:45112943-45112952 chr15:45112940-45112956 chr15:45113068-45113077
29	HEY1	chr15:45112631-45112928	K562	blood:	n/a	n/a
30	HEY1	chr15:45116535-45117370	HepG2	liver:	n/a	chr15:45116885-45116894
31	HEY1	chr15:45112650-45112872	K562	blood:	n/a	n/a
32	HEY1	chr15:45116416-45117405	HepG2	liver:	n/a	chr15:45116885-45116894
33	HNF4A	chr15:45117025-45117214	HepG2	liver:	n/a	chr15:45117113-45117125 chr15:45117105-45117120 chr15:45117111-45117126
34	HNF4A	chr15:45117031-45117210	HepG2	liver:	n/a	chr15:45117113-45117125 chr15:45117105-45117120 chr15:45117111-45117126
35	HNF4G	chr15:45117039-45117192	HepG2	liver:	n/a	chr15:45117113-45117125 chr15:45117105-45117120 chr15:45117110-45117125
36	IRF1	chr15:45112882-45113093	K562	blood:	n/a	n/a
37	JUN	chr15:45112778-45113142	K562	blood:	n/a	chr15:45112841-45112849 chr15:45112840-45112850 chr15:45112840-45112850 chr15:45112840-45112850
38	JUN	chr15:45112670-45113428	K562	blood:	n/a	chr15:45112841-45112849 chr15:45112840-45112850 chr15:45112840-45112850 chr15:45112840-45112850
39	JUND	chr15:45111591-45111777	K562	blood:	n/a	chr15:45111632-45111642 chr15:45111632-45111642 chr15:45111632-45111642 chr15:45111629-45111640
40	JUND	chr15:45120631-45121115	HepG2	liver:	n/a	n/a
41	JUND	chr15:45116819-45117283	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
42	JUND	chr15:45112766-45113239	K562	blood:	n/a	chr15:45112841-45112849 chr15:45112840-45112850 chr15:45112840-45112850 chr15:45112840-45112850
43	JUND	chr15:45116416-45117334	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
44	JUND	chr15:45116458-45116799	HepG2	liver:	n/a	n/a
45	JUND	chr15:45120814-45121011	HepG2	liver:	n/a	n/a
46	JUND	chr15:45117518-45117689	HepG2	liver:	n/a	n/a
47	MAFF	chr15:45112807-45113062	K562	blood:	n/a	n/a
48	MAFK	chr15:45111090-45111116	K562	blood:	n/a	n/a
49	MAFK	chr15:45112838-45112970	K562	blood:	n/a	n/a
50	MAX	chr15:45113165-45113516	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45002455..45004685-chr15:45109842..45111861,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM69-1	chr15:45119097-45119292	ENSG00000259187.1
2	lnc-TRIM69-1	chr15:45118738-45118965	ENSG00000259187.1

Variant related genes	Relation type
ENSG00000259479	TF binding region
ENSG00000259187	TF binding region
ENSG00000166710	chromatin interactions
ENSG00000229474	chromatin interactions

Extended variants
information (count: 462 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552050109	chr15:45110651-45110652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571799440	chr15:45110704-45110705	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373633193	chr15:45110712-45110713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557609268	chr15:45110716-45110717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567572065	chr15:45110737-45110738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536206292	chr15:45110751-45110752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553055658	chr15:45110830-45110831	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs7176222	chr15:45110856-45110857	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2689324	chr15:45110857-45110858	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2689323	chr15:45110861-45110862	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575375325	chr15:45110901-45110902	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544202142	chr15:45110956-45110957	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561201185	chr15:45111035-45111036	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574357368	chr15:45111044-45111045	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540188743	chr15:45111045-45111046	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560187213	chr15:45111067-45111068	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575997915	chr15:45111083-45111084	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552283254	chr15:45111084-45111085	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565365520	chr15:45111117-45111118	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566618599	chr15:45111135-45111136	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567903912	chr15:45111139-45111140	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191366061	chr15:45111142-45111143	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185628546	chr15:45111158-45111159	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566513488	chr15:45111165-45111166	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2462040	chr15:45111265-45111266	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35776275	chr15:45111288-45111289	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200657210	chr15:45111306-45111307	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558982972	chr15:45111310-45111311	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575366352	chr15:45111319-45111320	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190500286	chr15:45111343-45111344	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371656768	chr15:45111355-45111356	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574722687	chr15:45111385-45111386	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs540523587	chr15:45111391-45111392	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145293158	chr15:45111409-45111410	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576883220	chr15:45111426-45111427	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113900548	chr15:45111449-45111450	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562567826	chr15:45111485-45111486	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs3959611	chr15:45111495-45111496	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2412938	chr15:45111520-45111521	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367771274	chr15:45111544-45111545	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531016533	chr15:45111564-45111565	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146435552	chr15:45111587-45111588	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139055513	chr15:45111592-45111593	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs2412939	chr15:45111595-45111596	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2899134	chr15:45111607-45111608	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34959925	chr15:45111625-45111626	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs546868182	chr15:45111626-45111627	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs2899135	chr15:45111631-45111632	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs3042891	chr15:45111634-45111635	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs575090490	chr15:45111647-45111648	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45094800-45111600	Weak transcription	Right Atrium	heart
2	chr15:45104800-45111200	Weak transcription	Left Ventricle	heart
3	chr15:45104800-45111400	Weak transcription	Pancreas	Pancrea
4	chr15:45104800-45111600	Weak transcription	Gastric	stomach
5	chr15:45105800-45121600	Weak transcription	Fetal Intestine Small	intestine
6	chr15:45106000-45110800	Weak transcription	Fetal Heart	heart
7	chr15:45106200-45111000	Weak transcription	Stomach Mucosa	stomach
8	chr15:45108000-45110800	Weak transcription	Liver	Liver
9	chr15:45108800-45111600	Weak transcription	Esophagus	oesophagus
10	chr15:45110200-45113600	Enhancers	HepG2	liver
11	chr15:45110400-45112600	Enhancers	K562	blood
12	chr15:45110800-45113400	Enhancers	Fetal Heart	heart
13	chr15:45110800-45113600	Enhancers	Liver	Liver
14	chr15:45111000-45113400	Enhancers	Stomach Mucosa	stomach
15	chr15:45111200-45112800	Enhancers	Left Ventricle	heart
16	chr15:45111400-45111600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr15:45111400-45112000	Enhancers	Right Ventricle	heart
18	chr15:45111400-45112600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:45111400-45112800	Enhancers	Pancreas	Pancrea
20	chr15:45111400-45113400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:45111600-45111800	Enhancers	Right Atrium	heart
22	chr15:45111600-45112000	Enhancers	Esophagus	oesophagus
23	chr15:45111600-45112000	Enhancers	Gastric	stomach
24	chr15:45111600-45112600	Enhancers	Lung	lung
25	chr15:45111800-45112200	Weak transcription	Right Atrium	heart
26	chr15:45112000-45123000	Weak transcription	Esophagus	oesophagus
27	chr15:45112200-45112600	Enhancers	Right Atrium	heart
28	chr15:45112600-45112800	Flanking Active TSS	K562	blood
29	chr15:45112600-45120400	Weak transcription	Lung	lung
30	chr15:45112800-45113000	Enhancers	K562	blood
31	chr15:45113000-45113200	Flanking Active TSS	K562	blood
32	chr15:45113200-45115000	Enhancers	K562	blood
33	chr15:45113400-45113800	Flanking Active TSS	Fetal Heart	heart
34	chr15:45113400-45119600	Weak transcription	Stomach Mucosa	stomach
35	chr15:45113600-45117200	Weak transcription	Liver	Liver
36	chr15:45113600-45117200	Weak transcription	HepG2	liver
37	chr15:45113800-45115400	Enhancers	Fetal Heart	heart
38	chr15:45114800-45115600	Enhancers	HUVEC	blood vessel
39	chr15:45117000-45117400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:45117000-45117800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr15:45117200-45117400	Enhancers	Gastric	stomach
42	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:45117200-45117600	Enhancers	Liver	Liver
46	chr15:45117200-45120400	Enhancers	HepG2	liver
47	chr15:45117400-45120400	Weak transcription	Gastric	stomach
48	chr15:45117600-45119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:45117600-45119000	Weak transcription	Liver	Liver
50	chr15:45117600-45120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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