Variant report

Variant	nsv1050498
Chromosome Location	chr11:4546300-4573642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:479)
CpG islands
(count:306)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:4568278-4568297	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:4560933-4561036	K562	blood:	n/a	n/a
3	CEBPB	chr11:4569325-4569525	A549	lung:	n/a	chr11:4569397-4569410
4	CEBPB	chr11:4551821-4552021	A549	lung:	n/a	n/a
5	CEBPB	chr11:4568337-4568455	HepG2	liver:	n/a	n/a
6	CTCF	chr11:4560980-4561130	AoAF	blood vessel:	n/a	n/a
7	CTCF	chr11:4572940-4573090	RPTEC	kidney:	n/a	n/a
8	CTCF	chr11:4560940-4561090	RPTEC	kidney:	n/a	n/a
9	CTCF	chr11:4572700-4572850	GM12865	blood:	n/a	n/a
10	CTCF	chr11:4560880-4561030	WI-38	lung:	n/a	n/a
11	CTCF	chr11:4572960-4573110	GM12878	blood:	n/a	n/a
12	CTCF	chr11:4572960-4573110	HepG2	liver:	n/a	n/a
13	CTCF	chr11:4560980-4561130	HepG2	liver:	n/a	n/a
14	CTCF	chr11:4572580-4572730	HCT-116	colon:	n/a	n/a
15	CTCF	chr11:4572900-4573050	AG04449	skin:	n/a	n/a
16	CTCF	chr11:4561320-4561470	HMF	breast:	n/a	n/a
17	CTCF	chr11:4560960-4561110	HMF	breast:	n/a	n/a
18	CTCF	chr11:4572685-4572804	Fibrobl	skin:	n/a	n/a
19	CTCF	chr11:4560960-4561110	Caco-2	colon:	n/a	n/a
20	CTCF	chr11:4572857-4573151	HepG2	liver:	n/a	n/a
21	CTCF	chr11:4561660-4561810	SAEC	small airway:	n/a	n/a
22	CTCF	chr11:4560940-4561090	HCFaa	heart:	n/a	n/a
23	CTCF	chr11:4560940-4561090	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr11:4560936-4561126	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:4572909-4573150	K562	blood:	n/a	n/a
26	CTCF	chr11:4572940-4573090	GM12866	blood:	n/a	n/a
27	CTCF	chr11:4561080-4561230	GM12868	blood:	n/a	n/a
28	CTCF	chr11:4572920-4573070	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr11:4561000-4561150	GM06990	blood:	n/a	n/a
30	CTCF	chr11:4572946-4573104	ProgFib	skin:	n/a	n/a
31	CTCF	chr11:4572928-4573112	HepG2	liver:	n/a	n/a
32	CTCF	chr11:4561000-4561150	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr11:4573180-4573330	K562	blood:	n/a	n/a
34	CTCF	chr11:4561240-4561390	AG10803	skin:	n/a	n/a
35	CTCF	chr11:4560935-4561150	GM13976	blood:	n/a	n/a
36	CTCF	chr11:4560940-4561090	GM12874	blood:	n/a	n/a
37	CTCF	chr11:4572940-4573090	GM12871	blood:	n/a	n/a
38	CTCF	chr11:4560940-4561090	GM12872	blood:	n/a	n/a
39	CTCF	chr11:4572866-4573109	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:4572673-4572822	GM12891	blood:	n/a	n/a
41	CTCF	chr11:4560960-4561110	HRE	kidney:	n/a	n/a
42	CTCF	chr11:4560960-4561110	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr11:4560960-4561110	GM12874	blood:	n/a	n/a
44	CTCF	chr11:4560980-4561130	AG10803	skin:	n/a	n/a
45	CTCF	chr11:4560920-4561070	NHEK	skin:	n/a	n/a
46	CTCF	chr11:4560954-4561120	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:4572722-4572775	NHEK	skin:	n/a	n/a
48	CTCF	chr11:4572980-4573130	NHEK	skin:	n/a	n/a
49	CTCF	chr11:4572940-4573090	HMEC	breast:	n/a	n/a
50	CTCF	chr11:4572880-4573030	K562	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4566380-4566430	IMR90	lung:	fetal
2	chr11:4566380-4566430	IMR90	lung:	fetal
3	chr11:4566380-4566430	HCM	heart:	n/a
4	chr11:4566380-4566430	T-47D	breast:	n/a
5	chr11:4566853-4566903	AG09319	gingival:	n/a
6	chr11:4565489-4565539	GM12878	blood:	n/a
7	chr11:4565475-4565525	Hela-S3	cervix:	n/a
8	chr11:4566853-4566903	MCF10A-Er-Src	breast:	n/a
9	chr11:4566853-4566903	AG04450	lung:	fetal
10	chr11:4566853-4566903	PFSK-1	brain:	n/a
11	chr11:4565489-4565539	MCF-7	breast:	n/a
12	chr11:4566853-4566903	AG09309	skin:	n/a
13	chr11:4566169-4566219	Hepatocyte	liver:	n/a
14	chr11:4566380-4566430	HRPEpiC	eye:	n/a
15	chr11:4566169-4566219	ovcar-3	ovarian:	n/a
16	chr11:4565489-4565539	AG09319	gingival:	n/a
17	chr11:4565489-4565539	GM06990	blood:	n/a
18	chr11:4566169-4566219	PrEC	prostate:	n/a
19	chr11:4565475-4565525	GM19239	blood:	n/a
20	chr11:4566169-4566219	AG10803	skin:	n/a
21	chr11:4565489-4565539	Hela-S3	cervix:	n/a
22	chr11:4566853-4566903	PANC-1	pancreas:	n/a
23	chr11:4566169-4566219	GM12892	blood:	n/a
24	chr11:4565475-4565525	MCF-7	breast:	n/a
25	chr11:4565475-4565525	SK-N-MC	brain:	n/a
26	chr11:4566380-4566430	GM12878	blood:	n/a
27	chr11:4566380-4566430	HCPEpiC	choroid plexus:	n/a
28	chr11:4565489-4565539	HRE	kidney:	n/a
29	chr11:4565475-4565525	CMK	blood:	n/a
30	chr11:4566853-4566903	NHDF-neo	bronchial:	n/a
31	chr11:4566169-4566219	AG04449	skin:	fetal
32	chr11:4566380-4566430	GM19239	blood:	n/a
33	chr11:4565489-4565539	AG10803	skin:	n/a
34	chr11:4566169-4566219	MCF10A-Er-Src	breast:	n/a
35	chr11:4566853-4566903	NB4	blood:	n/a
36	chr11:4566853-4566903	T-47D	breast:	n/a
37	chr11:4565489-4565539	SK-N-SH	brain:	n/a
38	chr11:4566853-4566903	ECC-1	luminal epithelium:	n/a
39	chr11:4566169-4566219	SKMC	muscle:	n/a
40	chr11:4566853-4566903	BJ	skin:	n/a
41	chr11:4566169-4566219	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:4566380-4566430	HEEpiC	esophagus:	n/a
43	chr11:4566853-4566903	HCF	heart:	n/a
44	chr11:4566853-4566903	GM12891	blood:	n/a
45	chr11:4566169-4566219	SK-N-SH_RA	brain:	n/a
46	chr11:4566169-4566219	HCM	heart:	n/a
47	chr11:4566169-4566219	BJ	skin:	n/a
48	chr11:4566853-4566903	GM12892	blood:	n/a
49	chr11:4566853-4566903	HEK293	kidney:	embryo
50	chr11:4565489-4565539	AG09309	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4563397..4564933-chr11:4566554..4568624,2	K562	blood:
2	chr11:4208191..4209065-chr11:4560550..4561852,3	MCF-7	breast:
3	chr11:4208647..4209327-chr11:4572350..4573087,2	MCF-7	breast:
4	chr11:4208297..4209495-chr11:4560565..4561805,6	K562	blood:
5	chr11:4202964..4204119-chr11:4560777..4561880,3	MCF-7	breast:
6	chr11:4208891..4209471-chr11:4572771..4573597,3	MCF-7	breast:
7	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:
8	chr11:4208014..4209388-chr11:4560615..4561905,12	MCF-7	breast:
9	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
10	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
11	chr11:4563433..4564999-chr11:4565844..4568054,2	K562	blood:
12	chr11:4563397..4564933-chr11:4566554..4568624,2	K562	blood:
13	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:

No data

Variant related genes	Relation type
OR52M1	TF binding region
OR52M1	CpG island
ENSG00000197790	chromatin interactions
ENSG00000254480	chromatin interactions

Extended variants
information (count: 912 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188494489	chr11:4548218-4548219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1430398	chr11:4548220-4548221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181295601	chr11:4548230-4548231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183617573	chr11:4548272-4548273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539591975	chr11:4548281-4548282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369666383	chr11:4548283-4548284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113781344	chr11:4548286-4548287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548794272	chr11:4548287-4548288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567362990	chr11:4548386-4548387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528094552	chr11:4548438-4548439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541422026	chr11:4548450-4548451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545820900	chr11:4548469-4548470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571530953	chr11:4548514-4548515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112740968	chr11:4548538-4548539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554134007	chr11:4548543-4548544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572264078	chr11:4548557-4548558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536489836	chr11:4548558-4548559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555541532	chr11:4548571-4548572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574084912	chr11:4548597-4548598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149529282	chr11:4552807-4552808	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547662234	chr11:4552811-4552812	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565848476	chr11:4552812-4552813	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529853576	chr11:4552838-4552839	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548003715	chr11:4552844-4552845	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567388319	chr11:4552864-4552865	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143874764	chr11:4552866-4552867	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556268808	chr11:4552883-4552884	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs386750017	chr11:4552884-4552885	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114528896	chr11:4552886-4552887	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12224815	chr11:4552902-4552903	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539837066	chr11:4552915-4552916	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs543170319	chr11:4552919-4552920	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555183385	chr11:4552920-4552921	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576737320	chr11:4552921-4552922	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112244429	chr11:4552930-4552931	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs565016522	chr11:4552935-4552936	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576734083	chr11:4552937-4552938	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540677150	chr11:4552938-4552939	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559572639	chr11:4552952-4552953	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529961158	chr11:4552965-4552966	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73428092	chr11:4552991-4552992	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563121553	chr11:4552997-4552998	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530656810	chr11:4553008-4553009	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs373301733	chr11:4553013-4553014	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186075631	chr11:4553014-4553015	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571653909	chr11:4553018-4553019	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73428093	chr11:4553019-4553020	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547488186	chr11:4553020-4553021	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566096926	chr11:4553023-4553024	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575955272	chr11:4553031-4553032	Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4548200-4548600	Enhancers	Esophagus	oesophagus
2	chr11:4552800-4553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:4552800-4553200	Enhancers	Placenta	Placenta
4	chr11:4552800-4553200	Active TSS	Stomach Smooth Muscle	stomach
5	chr11:4552800-4553400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:4552800-4553400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr11:4552800-4553400	Enhancers	Esophagus	oesophagus
8	chr11:4564600-4565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:4564600-4565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:4564600-4565400	Enhancers	HUVEC	blood vessel
11	chr11:4564600-4565400	Enhancers	NHEK	skin
12	chr11:4564800-4565200	Enhancers	A549	lung
13	chr11:4564800-4565400	Enhancers	HMEC	breast
14	chr11:4566600-4569800	Enhancers	Liver	Liver
15	chr11:4567200-4568800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:4567600-4569400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr11:4567800-4569200	Enhancers	Fetal Intestine Small	intestine
18	chr11:4567800-4569400	Enhancers	Fetal Intestine Large	intestine
19	chr11:4568000-4568400	Enhancers	Stomach Mucosa	stomach
20	chr11:4568000-4569400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:4568400-4568600	Enhancers	Gastric	stomach
22	chr11:4568600-4569200	Enhancers	Small Intestine	intestine
23	chr11:4568600-4580600	Weak transcription	Gastric	stomach
24	chr11:4572000-4572400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:4572400-4572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:4572600-4572800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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