Variant report

Variant	nsv9249
Chromosome Location	chr15:43887372-43893009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43892229-43892364	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:43892080-43892493	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:43892586-43892771	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:43892894-43893039	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr15:43892216-43892835	SK-N-SH	brain:	n/a	n/a
6	REST	chr15:43892366-43892561	U87	brain:	n/a	n/a
7	REST	chr15:43892310-43892538	PANC-1	pancreas:	n/a	n/a
8	REST	chr15:43885490-43887444	PFSK-1	brain:	n/a	chr15:43885981-43885990 chr15:43886674-43886684 chr15:43886090-43886100 chr15:43885992-43886006 chr15:43887422-43887430
9	REST	chr15:43892274-43892523	U87	brain:	n/a	n/a
10	REST	chr15:43892281-43892550	PANC-1	pancreas:	n/a	n/a
11	REST	chr15:43892319-43892561	GM12878	blood:	n/a	n/a
12	REST	chr15:43892309-43892551	SK-N-SH	brain:	n/a	n/a
13	REST	chr15:43892150-43892568	GM12878	blood:	n/a	n/a
14	REST	chr15:43892108-43892643	U87	brain:	n/a	n/a
15	REST	chr15:43891963-43892840	U87	brain:	n/a	n/a
16	REST	chr15:43892338-43892545	HepG2	liver:	n/a	n/a
17	REST	chr15:43892338-43892537	PFSK-1	brain:	n/a	n/a
18	REST	chr15:43892383-43892528	HepG2	liver:	n/a	n/a
19	REST	chr15:43892255-43892678	HepG2	liver:	n/a	n/a
20	REST	chr15:43892153-43892700	GM12878	blood:	n/a	n/a
21	REST	chr15:43892199-43892586	PFSK-1	brain:	n/a	n/a
22	REST	chr15:43892321-43892582	HepG2	liver:	n/a	n/a
23	REST	chr15:43892226-43892655	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr15:43886924-43887421	U87	brain:	n/a	n/a
25	REST	chr15:43892313-43892578	SK-N-SH	brain:	n/a	n/a
26	REST	chr15:43892155-43892617	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr15:43892560-43892711	ECC-1	luminal epithelium:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:43891480-43891530	HCF	heart:	n/a
2	chr15:43889864-43889914	A549	lung:	n/a
3	chr15:43891480-43891530	ProgFib	skin:	n/a
4	chr15:43889864-43889914	ovcar-3	ovarian:	n/a
5	chr15:43891480-43891530	AG09309	skin:	n/a
6	chr15:43889864-43889914	K562	blood:	n/a
7	chr15:43891480-43891530	Hela-S3	cervix:	n/a
8	chr15:43891480-43891530	SAEC	small airway:	n/a
9	chr15:43889864-43889914	MCF-7	breast:	n/a
10	chr15:43889864-43889914	AG04450	lung:	fetal
11	chr15:43889864-43889914	AG09319	gingival:	n/a
12	chr15:43889864-43889914	NT2-D1	testis:	n/a
13	chr15:43889864-43889914	SK-N-SH_RA	brain:	n/a
14	chr15:43891480-43891530	PANC-1	pancreas:	n/a
15	chr15:43891480-43891530	HepG2	liver:	n/a
16	chr15:43891480-43891530	PrEC	prostate:	n/a
17	chr15:43889864-43889914	HNPCEpiC	eye:	n/a
18	chr15:43889864-43889914	Jurkat	blood:	n/a
19	chr15:43891480-43891530	GM19239	blood:	n/a
20	chr15:43889864-43889914	SK-N-SH	brain:	n/a
21	chr15:43891480-43891530	NH-A	brain:	n/a
22	chr15:43889864-43889914	PANC-1	pancreas:	n/a
23	chr15:43889864-43889914	HMEC	breast:	n/a
24	chr15:43889864-43889914	HPAEpiC	pulmonary alveolar:	n/a
25	chr15:43889864-43889914	GM06990	blood:	n/a
26	chr15:43891480-43891530	HCT-116	colon:	n/a
27	chr15:43891480-43891530	CMK	blood:	n/a
28	chr15:43891480-43891530	HMEC	breast:	n/a
29	chr15:43889864-43889914	NHBE	bronchial:	n/a
30	chr15:43889864-43889914	HUVEC	blood vessel:	n/a
31	chr15:43889864-43889914	AG04449	skin:	fetal
32	chr15:43891480-43891530	AoSMC	blood vessel:	n/a
33	chr15:43889864-43889914	U87	brain:	n/a
34	chr15:43891480-43891530	HCPEpiC	choroid plexus:	n/a
35	chr15:43889864-43889914	HepG2	liver:	n/a
36	chr15:43889864-43889914	BE2_C	brain:	n/a
37	chr15:43891480-43891530	Caco-2	colon:	n/a
38	chr15:43889864-43889914	NB4	blood:	n/a
39	chr15:43891480-43891530	IMR90	lung:	fetal
40	chr15:43889864-43889914	SK-N-MC	brain:	n/a
41	chr15:43891480-43891530	NHBE	bronchial:	n/a
42	chr15:43889864-43889914	MCF10A-Er-Src	breast:	n/a
43	chr15:43891480-43891530	LNCaP	prostate:	n/a
44	chr15:43891480-43891530	SK-N-SH	brain:	n/a
45	chr15:43889864-43889914	Caco-2	colon:	n/a
46	chr15:43891480-43891530	MCF-7	breast:	n/a
47	chr15:43891480-43891530	AG04450	lung:	fetal
48	chr15:43889864-43889914	PFSK-1	brain:	n/a
49	chr15:43889864-43889914	GM12891	blood:	n/a
50	chr15:43891480-43891530	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	15:43889977-43895899..15:44001645-44015047	GM12878	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP1A-1	chr15:43891590-43891731	ENSG00000240430.1

No data

Variant related genes	Relation type
RNU6-554P	TF binding region
PPIP5K1	TF binding region
CKMT1B	TF binding region
RNU6-554P	CpG island
PPIP5K1	CpG island
CKMT1B	CpG island
ENSG00000242866	chromatin interactions
ENSG00000238494	chromatin interactions
ENSG00000166763	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143878241	chr15:43887435-43887436	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148622895	chr15:43887512-43887513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112098208	chr15:43887526-43887527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144516907	chr15:43887981-43887982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552532443	chr15:43888309-43888310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565348580	chr15:43888331-43888332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569317565	chr15:43888391-43888392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531998037	chr15:43888485-43888486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548911205	chr15:43888538-43888539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568638041	chr15:43888541-43888542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371987094	chr15:43888554-43888555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149230297	chr15:43888677-43888678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199826616	chr15:43888689-43888690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554099912	chr15:43888715-43888716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376120318	chr15:43888743-43888744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146365795	chr15:43888744-43888745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374661313	chr15:43888753-43888754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555737933	chr15:43888761-43888762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201489142	chr15:43888772-43888773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189827985	chr15:43888774-43888775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541687320	chr15:43888787-43888788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555262009	chr15:43888803-43888804	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572277175	chr15:43888850-43888851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77834292	chr15:43888852-43888853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564165376	chr15:43888863-43888864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532632372	chr15:43888864-43888865	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546319506	chr15:43888868-43888869	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113292887	chr15:43888877-43888878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547616289	chr15:43888890-43888891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183186835	chr15:43888907-43888908	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187911665	chr15:43888915-43888916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10518820	chr15:43888976-43888977	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs547962967	chr15:43888989-43888990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367857351	chr15:43889004-43889005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539473811	chr15:43889083-43889084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555854754	chr15:43889093-43889094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569281291	chr15:43889094-43889095	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66507262	chr15:43889122-43889123	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554978022	chr15:43889148-43889149	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28475234	chr15:43889188-43889189	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs541011698	chr15:43889190-43889191	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28535466	chr15:43889191-43889192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557884688	chr15:43889193-43889194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374104864	chr15:43889217-43889218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367647980	chr15:43889221-43889222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577773062	chr15:43889222-43889223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115932989	chr15:43889254-43889255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs562994291	chr15:43889318-43889319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576640095	chr15:43889367-43889368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542229730	chr15:43889398-43889399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Oral squamous cell carcinoma	17134496	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
Renal cell carcinoma	18765545	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
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43851800-43889600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:43871400-43898000	Weak transcription	Gastric	stomach
3	chr15:43885200-43888600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:43885200-43889800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:43887000-43888600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:43887000-43888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:43887200-43888800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:43887200-43888800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:43887400-43889600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:43887400-43892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:43887400-43894200	Weak transcription	Placenta	Placenta
12	chr15:43887400-43894400	Weak transcription	Colonic Mucosa	Colon
13	chr15:43887400-43894400	Weak transcription	HMEC	breast
14	chr15:43887400-43894400	Weak transcription	NHEK	skin
15	chr15:43887600-43894000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:43887800-43890200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:43888200-43889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:43888200-43894400	Weak transcription	Esophagus	oesophagus
19	chr15:43888600-43889400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr15:43888600-43891600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr15:43888800-43889200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr15:43888800-43890000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:43888800-43890400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:43889200-43891800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:43889200-43893600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:43889400-43894800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:43889600-43890000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:43889600-43891200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:43889800-43890200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:43889800-43890400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:43890000-43894400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:43890000-43894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:43890200-43891000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:43890200-43891200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:43890400-43890800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:43890400-43894400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:43890800-43891400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:43891200-43891600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr15:43891200-43892600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:43891400-43894400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:43891600-43893600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:43891600-43896600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr15:43892000-43894400	Weak transcription	Fetal Intestine Small	intestine
44	chr15:43892600-43893000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:43892800-43893000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:43893000-43897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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