Variant report

Variant	nsv94840
Chromosome Location	chr15:57922185-57931412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:57927059-57927200	HepG2	liver:	n/a	chr15:57927088-57927099 chr15:57927089-57927100
2	CTCF	chr15:57927648-57927725	ProgFib	skin:	n/a	n/a
3	CTCF	chr15:57927560-57927710	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr15:57927632-57927755	MCF-7	breast:	n/a	n/a
5	CTCF	chr15:57927720-57927870	HCM	heart:	n/a	n/a
6	CTCF	chr15:57927540-57927690	HVMF	connective:	n/a	n/a
7	CTCF	chr15:57927580-57927730	AG10803	skin:	n/a	n/a
8	CTCF	chr15:57927580-57927730	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr15:57927660-57927810	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr15:57927656-57927747	MCF-7	breast:	n/a	n/a
11	CTCF	chr15:57927660-57927810	HMEC	breast:	n/a	n/a
12	CTCF	chr15:57927660-57927750	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr15:57927680-57927830	A549	lung:	n/a	n/a
14	CTCF	chr15:57927740-57927890	MCF-7	breast:	n/a	n/a
15	CTCF	chr15:57927480-57927630	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr15:57927685-57927727	MCF-7	breast:	n/a	n/a
17	CTCF	chr15:57927594-57927774	LNCaP	prostate:	n/a	n/a
18	CTCF	chr15:57927500-57927650	HPF	lung:	n/a	n/a
19	CTCF	chr15:57927620-57927770	Caco-2	colon:	n/a	n/a
20	CTCF	chr15:57927520-57927670	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr15:57927580-57927730	BJ	skin:	n/a	n/a
22	CTCF	chr15:57927600-57927750	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr15:57927600-57927750	Caco-2	colon:	n/a	n/a
24	CTCF	chr15:57927620-57927770	RPTEC	kidney:	n/a	n/a
25	CTCF	chr15:57927634-57927722	LNCaP	prostate:	n/a	n/a
26	CTCF	chr15:57927580-57927730	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr15:57927540-57927690	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr15:57927640-57927790	SAEC	small airway:	n/a	n/a
29	CTCF	chr15:57927682-57927690	A549	lung:	n/a	n/a
30	CTCF	chr15:57927620-57927770	AG09309	skin:	n/a	n/a
31	CTCF	chr15:57927578-57927740	HepG2	liver:	n/a	n/a
32	CTCF	chr15:57927589-57927776	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr15:57927600-57927750	SAEC	small airway:	n/a	n/a
34	CTCF	chr15:57927540-57927690	HRE	kidney:	n/a	n/a
35	CTCF	chr15:57927620-57927770	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr15:57927760-57927910	HFF	foreskin:	n/a	n/a
37	CTCF	chr15:57927600-57927750	AG09319	gingival:	n/a	n/a
38	CTCF	chr15:57927590-57927772	MCF-7	breast:	n/a	n/a
39	CTCF	chr15:57927550-57927780	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr15:57927640-57927790	HAc	cerebellar:	n/a	n/a
41	CTCF	chr15:57927436-57927775	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr15:57927540-57927690	BJ	skin:	n/a	n/a
43	CTCF	chr15:57927627-57927741	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr15:57927600-57927750	HPAF	blood vessel:	n/a	n/a
45	FOS	chr15:57930137-57930441	HUVEC	blood vessel:	n/a	chr15:57930411-57930425
46	JUND	chr15:57929857-57930180	HepG2	liver:	n/a	n/a
47	NR3C1	chr15:57927837-57928067	A549	lung:	n/a	n/a
48	POLR2A	chr15:57930822-57930889	MCF10A-Er-Src	breast:	n/a	n/a
49	RAD21	chr15:57927560-57927764	SK-N-SH_RA	brain:	n/a	n/a
50	RAD21	chr15:57927476-57927892	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57834554..57835358-chr15:57927382..57928092,2	MCF-7	breast:
2	chr15:57921790..57923628-chr15:57933516..57936267,2	K562	blood:
3	chr15:57915114..57918233-chr15:57920361..57923477,3	K562	blood:
4	chr15:57911096..57913539-chr15:57927468..57930271,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYZAP	TF binding region

Extended variants
information (count: 457 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:457 , 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	rs113653820	chr15:57922187-57922188	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531633534	chr15:57922251-57922252	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551739000	chr15:57922252-57922253	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533560886	chr15:57922284-57922285	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564710306	chr15:57922311-57922312	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527309595	chr15:57922313-57922314	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144097277	chr15:57922314-57922315	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187230760	chr15:57922319-57922320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573423026	chr15:57922385-57922386	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146474099	chr15:57922409-57922410	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538136235	chr15:57922417-57922418	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558460527	chr15:57922452-57922453	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529245358	chr15:57922456-57922457	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140823028	chr15:57922476-57922477	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534159909	chr15:57922496-57922497	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150482159	chr15:57922511-57922512	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72743594	chr15:57922530-57922531	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553887136	chr15:57922549-57922550	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574133939	chr15:57922566-57922567	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73424704	chr15:57922601-57922602	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192653562	chr15:57922606-57922607	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112462643	chr15:57922662-57922663	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2733592	chr15:57922695-57922696	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544952381	chr15:57922700-57922701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373939607	chr15:57922753-57922754	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370200520	chr15:57922767-57922768	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565153993	chr15:57922792-57922793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527600357	chr15:57922807-57922808	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547324674	chr15:57922825-57922826	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116279597	chr15:57922888-57922889	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529733498	chr15:57922892-57922893	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528329492	chr15:57922946-57922947	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549501645	chr15:57922975-57922976	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569090072	chr15:57923054-57923055	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73424705	chr15:57923064-57923065	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551696792	chr15:57923086-57923087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184590943	chr15:57923087-57923088	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534227264	chr15:57923139-57923140	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150179726	chr15:57923164-57923165	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575823254	chr15:57923172-57923173	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545334347	chr15:57923232-57923233	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116899925	chr15:57923236-57923237	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536726952	chr15:57923269-57923270	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113381025	chr15:57923275-57923276	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138633844	chr15:57923290-57923291	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72743595	chr15:57923325-57923326	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34869826	chr15:57923330-57923331	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564935132	chr15:57923355-57923356	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56261609	chr15:57923379-57923380	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs118001599	chr15:57923380-57923381	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57894400-57938200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr15:57900600-57941600	Weak transcription	Colonic Mucosa	Colon
3	chr15:57904400-57935200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:57904600-57936400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:57905000-57940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:57912200-57924000	Weak transcription	Esophagus	oesophagus
7	chr15:57912200-57939200	Weak transcription	Placenta	Placenta
8	chr15:57912400-57923800	Weak transcription	Lung	lung
9	chr15:57912800-57931600	Weak transcription	Spleen	Spleen
10	chr15:57914800-57926600	Weak transcription	Hela-S3	cervix
11	chr15:57915600-57927400	Strong transcription	Fetal Intestine Small	intestine
12	chr15:57916600-57927600	Strong transcription	Fetal Intestine Large	intestine
13	chr15:57917600-57935400	Weak transcription	Stomach Mucosa	stomach
14	chr15:57918400-57927800	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:57918600-57924000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:57919400-57926200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:57919400-57946800	Weak transcription	Fetal Lung	lung
18	chr15:57919400-57959400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:57919600-57925800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:57919800-57922200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:57919800-57926200	Weak transcription	Right Atrium	heart
22	chr15:57919800-57926200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:57919800-57927000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr15:57919800-57927200	Weak transcription	Ovary	ovary
25	chr15:57920000-57924400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:57920000-57924800	Weak transcription	HUVEC	blood vessel
27	chr15:57920000-57931600	Weak transcription	Aorta	Aorta
28	chr15:57920200-57923200	Strong transcription	Adipose Nuclei	Adipose
29	chr15:57920200-57926200	Weak transcription	Psoas Muscle	Psoas
30	chr15:57920400-57926800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr15:57921000-57923400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:57921600-57922200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:57921600-57922200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:57921600-57923000	Strong transcription	Right Ventricle	heart
35	chr15:57921600-57923400	Enhancers	Fetal Heart	heart
36	chr15:57921600-57925200	Genic enhancers	Left Ventricle	heart
37	chr15:57921600-57926200	Strong transcription	Fetal Stomach	stomach
38	chr15:57921600-57926800	Strong transcription	Gastric	stomach
39	chr15:57921600-57927400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr15:57922000-57923400	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:57922000-57923400	Weak transcription	Pancreas	Pancrea
42	chr15:57922000-57928000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:57922200-57925600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:57922200-57926400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:57922400-57922600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr15:57923000-57923400	Genic enhancers	Right Ventricle	heart
47	chr15:57923200-57924000	Genic enhancers	Adipose Nuclei	Adipose
48	chr15:57923400-57923600	Enhancers	Fetal Muscle Trunk	muscle
49	chr15:57923400-57923600	Weak transcription	Right Ventricle	heart
50	chr15:57923400-57924200	Enhancers	Fetal Muscle Leg	muscle

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