Variant report

Variant	nsv976941
Chromosome Location	chr15:59843990-59846178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:59846079-59846882	HepG2	liver:	n/a	n/a
2	BCL3	chr15:59846120-59846896	A549	lung:	n/a	n/a
3	BHLHE40	chr15:59846142-59846668	HepG2	liver:	n/a	n/a
4	CEBPB	chr15:59846077-59846675	HepG2	liver:	n/a	n/a
5	CEBPB	chr15:59845990-59846697	A549	lung:	n/a	n/a
6	CEBPB	chr15:59846092-59846627	HepG2	liver:	n/a	n/a
7	CEBPB	chr15:59846092-59846590	A549	lung:	n/a	n/a
8	CEBPB	chr15:59846157-59846694	A549	lung:	n/a	n/a
9	CEBPB	chr15:59846037-59846701	HepG2	liver:	n/a	n/a
10	CEBPD	chr15:59846165-59846532	HepG2	liver:	n/a	n/a
11	CREB1	chr15:59845960-59846280	A549	lung:	n/a	n/a
12	CREB1	chr15:59845942-59846841	HepG2	liver:	n/a	n/a
13	CREB1	chr15:59845990-59846839	HepG2	liver:	n/a	n/a
14	CTCF	chr15:59846020-59846170	GM12872	blood:	n/a	n/a
15	CTCF	chr15:59845172-59845201	GM13976	blood:	n/a	n/a
16	CTCF	chr15:59846140-59846290	HUVEC	blood vessel:	n/a	n/a
17	ELF1	chr15:59846030-59846576	HepG2	liver:	n/a	n/a
18	ELF1	chr15:59846056-59846558	HepG2	liver:	n/a	n/a
19	EP300	chr15:59846075-59846707	HepG2	liver:	n/a	chr15:59846391-59846401
20	EP300	chr15:59845898-59846870	A549	lung:	n/a	chr15:59846391-59846401
21	EP300	chr15:59846060-59846834	HepG2	liver:	n/a	chr15:59846391-59846401
22	EP300	chr15:59845933-59846870	HepG2	liver:	n/a	chr15:59846391-59846401
23	EP300	chr15:59846000-59846850	A549	lung:	n/a	chr15:59846391-59846401
24	FOS	chr15:59846148-59846469	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr15:59846067-59846551	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr15:59846079-59846547	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL2	chr15:59845961-59846733	A549	lung:	n/a	n/a
28	FOXA1	chr15:59846009-59846849	HepG2	liver:	n/a	chr15:59846564-59846579
29	FOXA1	chr15:59846002-59846932	HepG2	liver:	n/a	chr15:59846564-59846579
30	FOXA1	chr15:59846071-59846875	HepG2	liver:	n/a	chr15:59846564-59846579
31	FOXA1	chr15:59846077-59846868	HepG2	liver:	n/a	chr15:59846564-59846579
32	FOXA2	chr15:59846083-59846873	A549	lung:	n/a	n/a
33	FOXA2	chr15:59845967-59846914	A549	lung:	n/a	n/a
34	FOXA2	chr15:59845855-59847249	HepG2	liver:	n/a	n/a
35	FOXA2	chr15:59845970-59846812	HepG2	liver:	n/a	n/a
36	GATA3	chr15:59845958-59847008	A549	lung:	n/a	n/a
37	GATA3	chr15:59846136-59846743	MCF-7	breast:	n/a	n/a
38	GATA3	chr15:59845985-59846942	A549	lung:	n/a	n/a
39	HDAC2	chr15:59845991-59846874	HepG2	liver:	n/a	n/a
40	HDAC2	chr15:59846056-59846814	HepG2	liver:	n/a	n/a
41	HNF4A	chr15:59846068-59846683	HepG2	liver:	n/a	n/a
42	HNF4G	chr15:59846014-59846665	HepG2	liver:	n/a	n/a
43	JUND	chr15:59846101-59846661	A549	lung:	n/a	n/a
44	JUND	chr15:59844159-59844181	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr15:59846131-59846685	HepG2	liver:	n/a	n/a
46	MAX	chr15:59845947-59846774	HepG2	liver:	n/a	n/a
47	MAX	chr15:59845992-59846407	K562	blood:	n/a	n/a
48	MAX	chr15:59845955-59846738	A549	lung:	n/a	n/a
49	MAX	chr15:59846003-59846577	A549	lung:	n/a	n/a
50	MAZ	chr15:59846157-59846808	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59842796..59844336-chr15:59845616..59847879,2	MCF-7	breast:
2	chr15:59842796..59844336-chr15:59845616..59847879,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2A2-4	chr15:59844814-59845292	NONHSAT044175

No data

Variant related genes	Relation type
ENSG00000240238	TF binding region

Extended variants
information (count: 151 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28541718	chr15:59843996-59843997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568938530	chr15:59843999-59844000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530056038	chr15:59844054-59844055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113743134	chr15:59844082-59844083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566725887	chr15:59844158-59844159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534192921	chr15:59844211-59844212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552567356	chr15:59844227-59844228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148270316	chr15:59844234-59844235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372204472	chr15:59844239-59844240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141376704	chr15:59844248-59844249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192218746	chr15:59844252-59844253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150767544	chr15:59844268-59844269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537148773	chr15:59844277-59844278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372889588	chr15:59844305-59844306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184548176	chr15:59844307-59844308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139682058	chr15:59844319-59844320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143899678	chr15:59844324-59844325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189418246	chr15:59844325-59844326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147273991	chr15:59844374-59844375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576900750	chr15:59844398-59844399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75277326	chr15:59844405-59844406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562747567	chr15:59844431-59844432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140673063	chr15:59844433-59844434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191929209	chr15:59844441-59844442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560468747	chr15:59844459-59844460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149770100	chr15:59844460-59844461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114442170	chr15:59844472-59844473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145735249	chr15:59844516-59844517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538378667	chr15:59844525-59844526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550005465	chr15:59844532-59844533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568169351	chr15:59844537-59844538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574342554	chr15:59844547-59844548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111286029	chr15:59844557-59844558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189200124	chr15:59844573-59844574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572431121	chr15:59844598-59844599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539724404	chr15:59844608-59844609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181844060	chr15:59844616-59844617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576758860	chr15:59844623-59844624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544146454	chr15:59844642-59844643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35703263	chr15:59844649-59844650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562450863	chr15:59844656-59844657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148579416	chr15:59844708-59844709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542066897	chr15:59844709-59844710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142991941	chr15:59844715-59844716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10152904	chr15:59844728-59844729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552177379	chr15:59844729-59844730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564552380	chr15:59844758-59844759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571190569	chr15:59844761-59844762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548667858	chr15:59844762-59844763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531612692	chr15:59844772-59844773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59835400-59844200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr15:59836400-59845400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:59839000-59847600	Weak transcription	Small Intestine	intestine
4	chr15:59841000-59844400	Enhancers	Fetal Intestine Small	intestine
5	chr15:59841400-59848200	Enhancers	HepG2	liver
6	chr15:59841600-59861600	Weak transcription	Gastric	stomach
7	chr15:59843000-59844000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:59843600-59844600	Enhancers	Hela-S3	cervix
9	chr15:59843600-59846000	Weak transcription	Stomach Mucosa	stomach
10	chr15:59843600-59851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:59843800-59844200	Weak transcription	A549	lung
12	chr15:59843800-59846000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:59843800-59846000	Weak transcription	Fetal Intestine Large	intestine
14	chr15:59843800-59846000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:59843800-59846200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:59844000-59844200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr15:59844200-59844400	Enhancers	A549	lung
18	chr15:59844200-59846000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:59844200-59847200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:59844400-59845400	Weak transcription	A549	lung
21	chr15:59844400-59846000	Weak transcription	Fetal Intestine Small	intestine
22	chr15:59844600-59845600	Weak transcription	Hela-S3	cervix
23	chr15:59845400-59846000	Enhancers	A549	lung
24	chr15:59845400-59849200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:59845600-59848200	Enhancers	Hela-S3	cervix
26	chr15:59845600-59849000	Enhancers	HMEC	breast
27	chr15:59846000-59846200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:59846000-59846400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:59846000-59846400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr15:59846000-59846400	Flanking Active TSS	A549	lung
31	chr15:59846000-59846600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:59846000-59846600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:59846000-59846800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:59846000-59846800	Enhancers	Liver	Liver
35	chr15:59846000-59847000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr15:59846000-59847200	Enhancers	K562	blood
37	chr15:59846000-59847400	Enhancers	HSMMtube	muscle
38	chr15:59846000-59847600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr15:59846000-59847800	Enhancers	HSMM	muscle
40	chr15:59846000-59848200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:59846000-59848600	Enhancers	Fetal Intestine Large	intestine
42	chr15:59846000-59848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:59846000-59848800	Enhancers	Duodenum Mucosa	Duodenum
44	chr15:59846000-59848800	Enhancers	Fetal Intestine Small	intestine
45	chr15:59846000-59848800	Enhancers	Stomach Mucosa	stomach
46	chr15:59846000-59848800	Enhancers	NHEK	skin

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