Variant report

Variant	nsv522994
Chromosome Location	chr11:73906924-73917190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:73916360-73916571	K562	blood:	n/a	n/a
2	CEBPB	chr11:73909236-73909564	HepG2	liver:	n/a	chr11:73909396-73909407
3	CEBPB	chr11:73909246-73909565	IMR90	lung:	n/a	chr11:73909396-73909407
4	CEBPB	chr11:73909264-73909530	A549	lung:	n/a	chr11:73909396-73909407
5	CEBPB	chr11:73909293-73909493	Hela-S3	cervix:	n/a	chr11:73909396-73909407
6	CEBPB	chr11:73909252-73909557	K562	blood:	n/a	chr11:73909396-73909407
7	CEBPB	chr11:73913797-73914014	HepG2	liver:	n/a	chr11:73913951-73913962 chr11:73913949-73913960
8	CEBPD	chr11:73916319-73916702	K562	blood:	n/a	n/a
9	CTCF	chr11:73913520-73913670	HCT-116	colon:	n/a	n/a
10	CUX1	chr11:73916889-73917157	K562	blood:	n/a	n/a
11	CUX1	chr11:73915180-73915194	GM12878	blood:	n/a	n/a
12	CUX1	chr11:73916248-73916498	K562	blood:	n/a	n/a
13	E2F4	chr11:73907019-73907651	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr11:73908213-73908438	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr11:73916276-73916597	K562	blood:	n/a	n/a
16	FOS	chr11:73906902-73907292	MCF10A-Er-Src	breast:	n/a	chr11:73907066-73907077
17	FOS	chr11:73906955-73907232	MCF10A-Er-Src	breast:	n/a	chr11:73907066-73907077
18	FOS	chr11:73906891-73907253	MCF10A-Er-Src	breast:	n/a	chr11:73907066-73907077
19	FOS	chr11:73906935-73907269	MCF10A-Er-Src	breast:	n/a	chr11:73907066-73907077
20	FOS	chr11:73906859-73907342	HUVEC	blood vessel:	n/a	chr11:73907066-73907077
21	FOXA1	chr11:73907851-73908117	T-47D	breast:	n/a	n/a
22	GATA1	chr11:73916233-73916617	PBDEFetal	blood:	n/a	n/a
23	GATA1	chr11:73915327-73916938	PBDE	blood:	n/a	n/a
24	GATA2	chr11:73916162-73916653	K562	blood:	n/a	n/a
25	GATA3	chr11:73908067-73908592	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr11:73915770-73915950	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr11:73913018-73913145	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr11:73910289-73910415	SH-SY5Y	brain:	n/a	n/a
29	JUN	chr11:73906888-73907214	HUVEC	blood vessel:	n/a	n/a
30	KAP1	chr11:73907156-73907720	K562	blood:	n/a	n/a
31	KAP1	chr11:73914306-73914748	K562	blood:	n/a	n/a
32	MAFK	chr11:73913509-73913544	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr11:73906864-73907227	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr11:73906886-73907188	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr11:73909770-73909802	MCF-7	breast:	n/a	n/a
36	NR2F2	chr11:73916238-73916554	K562	blood:	n/a	n/a
37	POLR2A	chr11:73907167-73907180	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:73916321-73916665	K562	blood:	n/a	n/a
39	POLR2A	chr11:73909697-73909804	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:73909834-73909879	Gliobla	brain:	n/a	n/a
41	POLR2A	chr11:73911491-73911554	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:73916189-73916663	K562	blood:	n/a	n/a
43	POLR2A	chr11:73911441-73911513	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:73909965-73909975	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:73910217-73910248	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:73909835-73909892	ProgFib	skin:	n/a	n/a
47	POLR2A	chr11:73909766-73909804	Gliobla	brain:	n/a	n/a
48	POLR2A	chr11:73911472-73911505	A549	lung:	n/a	n/a
49	POLR2A	chr11:73909703-73909789	A549	lung:	n/a	n/a
50	POLR2A	chr11:73909800-73909802	A549	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73912839..73914764-chr11:73916300..73918461,2	K562	blood:
2	chr11:73909031..73911408-chr11:73914439..73916958,2	K562	blood:
3	chr11:73902734..73904600-chr11:73906039..73908502,2	K562	blood:
4	chr11:73910737..73913251-chr7:32993964..32996194,2	MCF-7	breast:
5	chr11:73897247..73899992-chr11:73915831..73918707,2	K562	blood:
6	chr11:73899140..73901160-chr11:73903960..73907119,3	K562	blood:
7	chr11:73914665..73916425-chr11:73919450..73922392,2	K562	blood:
8	chr11:73899942..73902342-chr11:73915012..73916803,2	K562	blood:
9	chr11:73692359..73693859-chr11:73914650..73916719,2	K562	blood:
10	chr11:73912839..73914764-chr11:73915918..73918461,3	K562	blood:
11	chr11:73912839..73914764-chr11:73915918..73918461,3	K562	blood:
12	chr11:73912839..73914764-chr11:73916300..73918461,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP343	TF binding region
ENSG00000200649	chromatin interactions

Extended variants
information (count: 394 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555964	chr11:73906924-73906925	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548149764	chr11:73906942-73906943	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76903045	chr11:73907017-73907018	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138013512	chr11:73907045-73907046	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76260873	chr11:73907046-73907047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530264299	chr11:73907072-73907073	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57151924	chr11:73907087-73907088	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560492996	chr11:73907182-73907183	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183684370	chr11:73907313-73907314	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77399125	chr11:73907319-73907320	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569568155	chr11:73907475-73907476	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531802688	chr11:73907515-73907516	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530403512	chr11:73907538-73907539	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34127737	chr11:73907540-73907541	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368174089	chr11:73907576-73907577	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566974268	chr11:73907595-73907596	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117388910	chr11:73907655-73907656	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368745004	chr11:73907699-73907700	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373653807	chr11:73907700-73907701	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397733508	chr11:73907702-73907703	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552515626	chr11:73907719-73907720	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568834700	chr11:73907735-73907736	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73565826	chr11:73907740-73907741	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188554453	chr11:73907751-73907752	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575538256	chr11:73907801-73907802	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537640644	chr11:73907807-73907808	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192891295	chr11:73907930-73907931	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs574946919	chr11:73907956-73907957	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116167896	chr11:73908028-73908029	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560594747	chr11:73908045-73908046	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144856734	chr11:73908047-73908048	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570097784	chr11:73908059-73908060	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546218223	chr11:73908089-73908090	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184919929	chr11:73908105-73908106	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188209476	chr11:73908143-73908144	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548450354	chr11:73908152-73908153	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113973022	chr11:73908154-73908155	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561959728	chr11:73908168-73908169	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529712097	chr11:73908179-73908180	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377101824	chr11:73908205-73908206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566266377	chr11:73908206-73908207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114978987	chr11:73908223-73908224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552200681	chr11:73908224-73908225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569009892	chr11:73908247-73908248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538152932	chr11:73908280-73908281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536070614	chr11:73908293-73908294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574708401	chr11:73908341-73908342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148585483	chr11:73908378-73908379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73565828	chr11:73908382-73908383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577313656	chr11:73908396-73908397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73883600-73915000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:73883600-73915200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:73883600-73921000	Weak transcription	Esophagus	oesophagus
4	chr11:73883600-73923200	Weak transcription	Aorta	Aorta
5	chr11:73883800-73915000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:73883800-73920000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:73883800-73923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:73884200-73907000	Weak transcription	Fetal Lung	lung
9	chr11:73884200-73915000	Weak transcription	Brain Anterior Caudate	brain
10	chr11:73884200-73915200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:73884200-73915400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:73884200-73916200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:73884200-73917600	Weak transcription	Ovary	ovary
14	chr11:73884200-73920200	Weak transcription	Thymus	Thymus
15	chr11:73884200-73941200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:73884200-73941800	Weak transcription	Small Intestine	intestine
17	chr11:73884400-73915200	Weak transcription	Liver	Liver
18	chr11:73884400-73915200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:73885600-73920200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:73885600-73920600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:73885600-73925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:73885600-73957000	Weak transcription	Fetal Brain Male	brain
23	chr11:73885800-73942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:73888400-73909600	Weak transcription	Right Atrium	heart
25	chr11:73891200-73915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:73891200-73920200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:73891400-73918400	Weak transcription	Osteobl	bone
28	chr11:73891400-73919800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:73891400-73924000	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:73893800-73908600	Weak transcription	Placenta	Placenta
31	chr11:73894000-73921600	Weak transcription	Pancreas	Pancrea
32	chr11:73894400-73915000	Weak transcription	Left Ventricle	heart
33	chr11:73895800-73915400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:73897200-73915000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:73897200-73918800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:73897200-73937600	Weak transcription	Fetal Heart	heart
37	chr11:73897600-73923200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:73897600-73923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:73899600-73915200	Weak transcription	Fetal Thymus	thymus
40	chr11:73900000-73914800	Weak transcription	Hela-S3	cervix
41	chr11:73901000-73920200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:73901400-73915800	Weak transcription	HepG2	liver
43	chr11:73901600-73915400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:73901600-73938000	Weak transcription	Psoas Muscle	Psoas
45	chr11:73901800-73915000	Weak transcription	Fetal Intestine Large	intestine
46	chr11:73901800-73915200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:73902200-73916400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:73902200-73936200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:73902400-73907000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:73902400-73914800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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