Variant report

Variant	nsv555149
Chromosome Location	chr11:59383323-59383823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:535)
CpG islands
(count:306)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:59383035-59384303	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:59383156-59384444	K562	blood:	n/a	n/a
3	ATF1	chr11:59383083-59384181	K562	blood:	n/a	n/a
4	ATF2	chr11:59383226-59384152	GM12878	blood:	n/a	n/a
5	ATF2	chr11:59383077-59384207	GM12878	blood:	n/a	n/a
6	ATF2	chr11:59383222-59383838	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr11:59383151-59383466	H1-hESC	embryonic stem cell:	n/a	chr11:59383244-59383253
8	ATF3	chr11:59383325-59383804	A549	lung:	n/a	chr11:59383589-59383609
9	ATF3	chr11:59383031-59383774	K562	blood:	n/a	chr11:59383244-59383253 chr11:59383589-59383609
10	BACH1	chr11:59383646-59383928	K562	blood:	n/a	n/a
11	BACH1	chr11:59383325-59383851	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr11:59383379-59383785	GM12878	blood:	n/a	n/a
13	BHLHE40	chr11:59383143-59384256	K562	blood:	n/a	chr11:59383252-59383268
14	BHLHE40	chr11:59383514-59384214	A549	lung:	n/a	n/a
15	BHLHE40	chr11:59383108-59384395	GM12878	blood:	n/a	chr11:59383252-59383268
16	BRCA1	chr11:59383149-59383924	GM12878	blood:	n/a	n/a
17	BRCA1	chr11:59383200-59383711	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr11:59383094-59383608	HepG2	liver:	n/a	n/a
19	BRCA1	chr11:59383112-59384130	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr11:59383082-59384392	K562	blood:	n/a	n/a
21	CCNT2	chr11:59382240-59383537	K562	blood:	n/a	chr11:59382575-59382584 chr11:59382536-59382556
22	CCNT2	chr11:59383821-59384283	K562	blood:	n/a	n/a
23	CEBPB	chr11:59383213-59384087	IMR90	lung:	n/a	chr11:59383540-59383548
24	CEBPB	chr11:59383209-59384082	Hela-S3	cervix:	n/a	chr11:59383540-59383548
25	CEBPB	chr11:59383491-59383987	K562	blood:	n/a	chr11:59383540-59383548
26	CEBPZ	chr11:59383181-59384028	HepG2	liver:	n/a	n/a
27	CHD1	chr11:59383039-59383364	GM12878	blood:	n/a	n/a
28	CHD2	chr11:59383074-59384025	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr11:59383093-59384133	K562	blood:	n/a	n/a
30	CHD2	chr11:59382454-59384139	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr11:59383015-59384265	GM12878	blood:	n/a	n/a
32	CHD2	chr11:59383088-59383953	HepG2	liver:	n/a	n/a
33	CREB1	chr11:59382951-59384128	H1-hESC	embryonic stem cell:	n/a	chr11:59383587-59383600
34	CREB1	chr11:59382974-59383997	H1-hESC	embryonic stem cell:	n/a	chr11:59383587-59383600
35	CREB1	chr11:59382973-59384301	GM12878	blood:	n/a	chr11:59383587-59383600
36	CREB1	chr11:59382959-59384229	HepG2	liver:	n/a	chr11:59383587-59383600
37	CREB1	chr11:59382804-59384140	K562	blood:	n/a	chr11:59383587-59383600
38	CREB1	chr11:59382593-59384228	GM12878	blood:	n/a	chr11:59383587-59383600
39	CREB1	chr11:59382981-59384124	ECC-1	luminal epithelium:	n/a	chr11:59383587-59383600
40	CREB1	chr11:59383028-59383943	A549	lung:	n/a	chr11:59383587-59383600
41	CREB1	chr11:59382924-59384031	A549	lung:	n/a	chr11:59383587-59383600
42	CREB1	chr11:59382530-59384146	HepG2	liver:	n/a	chr11:59383587-59383600
43	CREB1	chr11:59382946-59384391	K562	blood:	n/a	chr11:59383587-59383600
44	CREB1	chr11:59382978-59384086	ECC-1	luminal epithelium:	n/a	chr11:59383587-59383600
45	CTBP2	chr11:59382349-59383860	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:59383023-59383565	IMR90	lung:	n/a	n/a
47	CTCF	chr11:59383071-59383768	GM12878	blood:	n/a	n/a
48	CTCF	chr11:59383180-59383330	GM12874	blood:	n/a	n/a
49	CTCF	chr11:59383061-59383526	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr11:59383134-59384204	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	chr11:59383689-59383739	ovcar-3	ovarian:	n/a
2	chr11:59383689-59383739	ovcar-3	ovarian:	n/a
3	chr11:59383578-59383628	MCF-7	breast:	n/a
4	chr11:59383689-59383739	HMEC	breast:	n/a
5	chr11:59383409-59383459	SAEC	small airway:	n/a
6	chr11:59383689-59383739	MCF10A-Er-Src	breast:	n/a
7	chr11:59383578-59383628	NHDF-neo	bronchial:	n/a
8	chr11:59383409-59383459	HRPEpiC	eye:	n/a
9	chr11:59383578-59383628	HRPEpiC	eye:	n/a
10	chr11:59383409-59383459	NHDF-neo	bronchial:	n/a
11	chr11:59383689-59383739	T-47D	breast:	n/a
12	chr11:59383312-59383362	HEK293	kidney:	embryo
13	chr11:59383312-59383362	IMR90	lung:	fetal
14	chr11:59383578-59383628	HUVEC	blood vessel:	n/a
15	chr11:59383578-59383628	HCM	heart:	n/a
16	chr11:59383578-59383628	AG09309	skin:	n/a
17	chr11:59383689-59383739	HCT-116	colon:	n/a
18	chr11:59383768-59383818	IMR90	lung:	fetal
19	chr11:59383768-59383818	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:59383768-59383818	SAEC	small airway:	n/a
21	chr11:59383768-59383818	AG09319	gingival:	n/a
22	chr11:59383689-59383739	ECC-1	luminal epithelium:	n/a
23	chr11:59383768-59383818	NHDF-neo	bronchial:	n/a
24	chr11:59383689-59383739	HRCEpiC	kidney:	n/a
25	chr11:59383578-59383628	PANC-1	pancreas:	n/a
26	chr11:59383768-59383818	Hepatocyte	liver:	n/a
27	chr11:59383578-59383628	LNCaP	prostate:	n/a
28	chr11:59383578-59383628	HCF	heart:	n/a
29	chr11:59383312-59383362	AoSMC	blood vessel:	n/a
30	chr11:59383312-59383362	LNCaP	prostate:	n/a
31	chr11:59383689-59383739	HEK293	kidney:	embryo
32	chr11:59383578-59383628	HEEpiC	esophagus:	n/a
33	chr11:59383578-59383628	GM19239	blood:	n/a
34	chr11:59383312-59383362	HRCEpiC	kidney:	n/a
35	chr11:59383768-59383818	MCF10A-Er-Src	breast:	n/a
36	chr11:59383768-59383818	NB4	blood:	n/a
37	chr11:59383312-59383362	AG09319	gingival:	n/a
38	chr11:59383768-59383818	HUVEC	blood vessel:	n/a
39	chr11:59383768-59383818	HepG2	liver:	n/a
40	chr11:59383689-59383739	AG04449	skin:	fetal
41	chr11:59383578-59383628	HMEC	breast:	n/a
42	chr11:59383768-59383818	HCF	heart:	n/a
43	chr11:59383409-59383459	HCF	heart:	n/a
44	chr11:59383689-59383739	NB4	blood:	n/a
45	chr11:59383409-59383459	GM12891	blood:	n/a
46	chr11:59383409-59383459	NT2-D1	testis:	n/a
47	chr11:59383689-59383739	GM12891	blood:	n/a
48	chr11:59383768-59383818	NH-A	brain:	n/a
49	chr11:59383409-59383459	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:59383409-59383459	HNPCEpiC	eye:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59382346..59384021-chr11:59576839..59579644,2	K562	blood:
2	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:
3	chr11:59332034..59337600-chr11:59380778..59383923,5	K562	blood:
4	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
5	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
6	chr11:59327475..59330060-chr11:59381628..59383602,2	K562	blood:
7	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
8	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
9	chr11:59324538..59326283-chr11:59383295..59385264,2	K562	blood:
10	chr11:59369187..59371019-chr11:59381585..59383481,2	MCF-7	breast:
11	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
12	chr11:59382728..59383524-chr6:31783159..31783746,2	Hela-S3	cervix:
13	chr11:59382734..59385576-chr11:59440781..59442919,2	K562	blood:
14	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
15	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
16	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX3-2	chr11:59383619-59385512	NONHSAT021532

No data

Variant related genes	Relation type
ENSG00000255139	TF binding region
OSBP	TF binding region
ENSG00000255139	CpG island
OSBP	CpG island
ENSG00000166902	chromatin interactions
ENSG00000255355	chromatin interactions
ENSG00000110048	chromatin interactions
ENSG00000252893	chromatin interactions
ENSG00000254477	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000166889	chromatin interactions
ENSG00000255139	chromatin interactions
ENSG00000166900	chromatin interactions
ENSG00000255008	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184597418	chr11:59383357-59383358	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs373526139	chr11:59383376-59383377	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs146776847	chr11:59383409-59383410	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs577517217	chr11:59383410-59383411	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs556939303	chr11:59383420-59383421	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs140496681	chr11:59383455-59383456	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs557761520	chr11:59383464-59383465	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs572789500	chr11:59383468-59383469	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs540182155	chr11:59383495-59383496	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs190576234	chr11:59383496-59383497	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs573788410	chr11:59383550-59383551	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs543937357	chr11:59383555-59383556	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs376471941	chr11:59383589-59383590	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs111933817	chr11:59383680-59383681	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
15	rs77753016	chr11:59383685-59383686	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
16	rs370952170	chr11:59383689-59383690	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
17	rs114054338	chr11:59383752-59383753	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs551381535	chr11:59383753-59383754	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs182304675	chr11:59383769-59383770	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
20	rs7951905	chr11:59383823-59383824	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59380000-59384400	Active TSS	Psoas Muscle	Psoas
2	chr11:59380600-59384400	Active TSS	Fetal Muscle Trunk	muscle
3	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:59381400-59384400	Active TSS	Aorta	Aorta
5	chr11:59381400-59384400	Active TSS	Ovary	ovary
6	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:59381600-59384000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:59381600-59384400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:59381600-59384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:59381800-59384000	Active TSS	GM12878-XiMat	blood
11	chr11:59381800-59384000	Active TSS	K562	blood
12	chr11:59381800-59384000	Active TSS	NHDF-Ad	bronchial
13	chr11:59381800-59384200	Active TSS	Fetal Intestine Small	intestine
14	chr11:59381800-59384400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr11:59381800-59384400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:59381800-59384400	Active TSS	Left Ventricle	heart
17	chr11:59382000-59383400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:59382000-59384000	Active TSS	HMEC	breast
19	chr11:59382000-59384000	Active TSS	HSMMtube	muscle
20	chr11:59382000-59384200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:59382000-59384200	Active TSS	Pancreas	Pancrea
22	chr11:59382000-59384400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr11:59382000-59384400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:59382000-59384400	Active TSS	Esophagus	oesophagus
25	chr11:59382200-59383400	Active TSS	Placenta Amnion	Placenta Amnion
26	chr11:59382200-59384000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:59382200-59384200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:59382200-59384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:59382200-59384400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:59382200-59384400	Active TSS	Lung	lung
31	chr11:59382200-59384400	Active TSS	Small Intestine	intestine
32	chr11:59382200-59384600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr11:59382200-59384800	Active TSS	A549	lung
34	chr11:59382400-59383400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:59382400-59383400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:59382400-59383400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr11:59382400-59384000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:59382400-59384000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:59382400-59384000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:59382400-59384000	Active TSS	Placenta	Placenta
41	chr11:59382400-59384000	Active TSS	Rectal Smooth Muscle	rectum
42	chr11:59382400-59384000	Active TSS	Hela-S3	cervix
43	chr11:59382400-59384000	Active TSS	HSMM	muscle
44	chr11:59382400-59384000	Active TSS	NH-A	brain
45	chr11:59382400-59384000	Active TSS	NHLF	lung
46	chr11:59382400-59384000	Active TSS	Osteobl	bone
47	chr11:59382400-59384200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:59382400-59384200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:59382400-59384200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:59382400-59384200	Active TSS	Brain Hippocampus Middle	brain

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