Variant report

Variant	nsv984074
Chromosome Location	chr15:55734672-55742358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:55740672-55740716	GM10248	blood:	n/a	n/a
2	CTCF	chr15:55740641-55740753	Kidney_OC	kidney:	n/a	n/a
3	NR2F2	chr15:55737240-55737629	K562	blood:	n/a	n/a
4	NR2F2	chr15:55737287-55737706	K562	blood:	n/a	n/a
5	POLR2A	chr15:55741717-55741855	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr15:55741712-55741869	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:55737718-55737768	MCF-7	breast:	n/a
2	chr15:55737718-55737768	IMR90	lung:	fetal
3	chr15:55737718-55737768	AG10803	skin:	n/a
4	chr15:55737718-55737768	HepG2	liver:	n/a
5	chr15:55737718-55737768	AG04450	lung:	fetal
6	chr15:55737718-55737768	SKMC	muscle:	n/a
7	chr15:55737718-55737768	H1-hESC	embryonic stem cell:	embryo
8	chr15:55737718-55737768	HNPCEpiC	eye:	n/a
9	chr15:55737718-55737768	PANC-1	pancreas:	n/a
10	chr15:55737718-55737768	BE2_C	brain:	n/a
11	chr15:55737718-55737768	AoSMC	blood vessel:	n/a
12	chr15:55737718-55737768	GM12892	blood:	n/a
13	chr15:55737718-55737768	GM19239	blood:	n/a
14	chr15:55737718-55737768	HRCEpiC	kidney:	n/a
15	chr15:55737718-55737768	HCT-116	colon:	n/a
16	chr15:55737718-55737768	K562	blood:	n/a
17	chr15:55737718-55737768	PFSK-1	brain:	n/a
18	chr15:55737718-55737768	SK-N-MC	brain:	n/a
19	chr15:55737718-55737768	SK-N-SH_RA	brain:	n/a
20	chr15:55737718-55737768	GM12891	blood:	n/a
21	chr15:55737718-55737768	CMK	blood:	n/a
22	chr15:55737718-55737768	AG04449	skin:	fetal
23	chr15:55737718-55737768	SK-N-SH	brain:	n/a
24	chr15:55737718-55737768	NHDF-neo	bronchial:	n/a
25	chr15:55737718-55737768	BJ	skin:	n/a
26	chr15:55737718-55737768	ovcar-3	ovarian:	n/a
27	chr15:55737718-55737768	ECC-1	luminal epithelium:	n/a
28	chr15:55737718-55737768	GM06990	blood:	n/a
29	chr15:55737718-55737768	Caco-2	colon:	n/a
30	chr15:55737718-55737768	HMEC	breast:	n/a
31	chr15:55737718-55737768	HUVEC	blood vessel:	n/a
32	chr15:55737718-55737768	NT2-D1	testis:	n/a
33	chr15:55737718-55737768	GM12878	blood:	n/a
34	chr15:55737718-55737768	HCPEpiC	choroid plexus:	n/a
35	chr15:55737718-55737768	NH-A	brain:	n/a
36	chr15:55737718-55737768	HCM	heart:	n/a
37	chr15:55737718-55737768	Hepatocyte	liver:	n/a
38	chr15:55737718-55737768	T-47D	breast:	n/a
39	chr15:55737718-55737768	HPAEpiC	pulmonary alveolar:	n/a
40	chr15:55737718-55737768	HRE	kidney:	n/a
41	chr15:55737718-55737768	HAEpiC	amniotic membrane:	n/a
42	chr15:55737718-55737768	LNCaP	prostate:	n/a
43	chr15:55737718-55737768	Hela-S3	cervix:	n/a
44	chr15:55737718-55737768	HL-60	blood:	n/a
45	chr15:55737718-55737768	HRPEpiC	eye:	n/a
46	chr15:55737718-55737768	AG09309	skin:	n/a
47	chr15:55737718-55737768	PrEC	prostate:	n/a
48	chr15:55737718-55737768	NHBE	bronchial:	n/a
49	chr15:55737718-55737768	ProgFib	skin:	n/a
50	chr15:55737718-55737768	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
ENSG00000260036	TF binding region
ENSG00000260036	CpG island

Extended variants
information (count: 423 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56104806	chr15:55734672-55734673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553524931	chr15:55734678-55734679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574269898	chr15:55734679-55734680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191004254	chr15:55734705-55734706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561459517	chr15:55734721-55734722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556903928	chr15:55734744-55734745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576674304	chr15:55734749-55734750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572451481	chr15:55734798-55734799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530575720	chr15:55734829-55734830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146903686	chr15:55734833-55734834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565358436	chr15:55734843-55734844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544443928	chr15:55734871-55734872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182360264	chr15:55734875-55734876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138961870	chr15:55734876-55734877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533289886	chr15:55734890-55734891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149029473	chr15:55735030-55735031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530117819	chr15:55735048-55735049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73408848	chr15:55735064-55735065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546653126	chr15:55735082-55735083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562466318	chr15:55735101-55735102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543185307	chr15:55735123-55735124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531383576	chr15:55735165-55735166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563506480	chr15:55735166-55735167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551199205	chr15:55735170-55735171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148213434	chr15:55735183-55735184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533694146	chr15:55735196-55735197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56412142	chr15:55735218-55735219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547470799	chr15:55735234-55735235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567109545	chr15:55735246-55735247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536268191	chr15:55735261-55735262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186671687	chr15:55735284-55735285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556867171	chr15:55735308-55735309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576836507	chr15:55735317-55735318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528935312	chr15:55735324-55735325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539219473	chr15:55735325-55735326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113946318	chr15:55735329-55735330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558932636	chr15:55735355-55735356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565097726	chr15:55735384-55735385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112749514	chr15:55735404-55735405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541126149	chr15:55735407-55735408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555062527	chr15:55735416-55735417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574466081	chr15:55735417-55735418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543442182	chr15:55735459-55735460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562429514	chr15:55735460-55735461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531543290	chr15:55735467-55735468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192340636	chr15:55735469-55735470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564881720	chr15:55735479-55735480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6493787	chr15:55735486-55735487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs547141309	chr15:55735502-55735503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567375144	chr15:55735506-55735507	Weak transcription	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55711800-55737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:55722200-55738000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:55729000-55738600	Weak transcription	Ovary	ovary
4	chr15:55730800-55738600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:55731000-55737800	Weak transcription	Fetal Stomach	stomach
6	chr15:55736400-55750000	Weak transcription	Right Ventricle	heart
7	chr15:55737600-55739800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:55737600-55740000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:55737600-55740600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:55737800-55739200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr15:55737800-55739400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:55737800-55739600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:55737800-55740000	ZNF genes & repeats	Fetal Stomach	stomach
14	chr15:55738000-55739400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:55738600-55739200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:55738600-55739200	ZNF genes & repeats	Ovary	ovary
17	chr15:55738600-55739800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr15:55738600-55740000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:55738600-55740000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr15:55739000-55740000	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr15:55739200-55749400	Weak transcription	Ovary	ovary
22	chr15:55739400-55745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:55739600-55740000	ZNF genes & repeats	Spleen	Spleen
24	chr15:55739800-55749400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:55740000-55741400	Weak transcription	Fetal Stomach	stomach
26	chr15:55740000-55742600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:55740000-55749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:55740000-55768400	Weak transcription	Pancreas	Pancrea
29	chr15:55741400-55742200	Strong transcription	Fetal Stomach	stomach
30	chr15:55742200-55745000	Weak transcription	Fetal Stomach	stomach

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