Variant report

Variant	nsv550133
Chromosome Location	chr10:19579806-19669367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:19603428-19603923	HepG2	liver:	n/a	n/a
2	BACH1	chr10:19590996-19591316	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr10:19591069-19591317	K562	blood:	n/a	n/a
4	CEBPB	chr10:19621245-19621611	IMR90	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
5	CEBPB	chr10:19617562-19617902	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
6	CEBPB	chr10:19621201-19621687	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
7	CEBPB	chr10:19621246-19621602	K562	blood:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
8	CEBPB	chr10:19621212-19621668	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
9	CEBPB	chr10:19621253-19621585	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
10	CEBPB	chr10:19617601-19617911	A549	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
11	CEBPB	chr10:19617561-19617954	Hela-S3	cervix:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
12	CEBPB	chr10:19621251-19621616	Hela-S3	cervix:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
13	CEBPB	chr10:19589028-19589280	HepG2	liver:	n/a	n/a
14	CEBPB	chr10:19621307-19621498	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
15	CEBPB	chr10:19621239-19621618	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
16	CEBPB	chr10:19593499-19593740	HepG2	liver:	n/a	n/a
17	CEBPB	chr10:19621255-19621616	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
18	CEBPB	chr10:19617597-19617861	H1-hESC	embryonic stem cell:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
19	CEBPB	chr10:19617025-19617162	A549	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
20	CEBPB	chr10:19621293-19621574	ECC-1	luminal epithelium:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
21	CEBPB	chr10:19648171-19648434	HepG2	liver:	n/a	chr10:19648298-19648311 chr10:19648299-19648310
22	CEBPB	chr10:19617522-19618040	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
23	CEBPB	chr10:19617015-19617159	IMR90	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
24	CEBPB	chr10:19653229-19653328	IMR90	lung:	n/a	chr10:19653266-19653279 chr10:19653266-19653279 chr10:19653268-19653279 chr10:19653266-19653279 chr10:19653268-19653279
25	CEBPB	chr10:19621243-19621575	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
26	CEBPB	chr10:19630705-19631211	Hela-S3	cervix:	n/a	chr10:19631083-19631092 chr10:19631083-19631092
27	CEBPB	chr10:19617567-19617931	IMR90	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
28	CEBPB	chr10:19589005-19589242	IMR90	lung:	n/a	n/a
29	CEBPB	chr10:19617569-19617929	HepG2	liver:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
30	CEBPB	chr10:19616929-19617199	HepG2	liver:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
31	CEBPB	chr10:19621286-19621558	H1-hESC	embryonic stem cell:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
32	CEBPB	chr10:19625503-19625733	HepG2	liver:	n/a	chr10:19625623-19625634
33	CEBPZ	chr10:19641658-19641670	HepG2	liver:	n/a	n/a
34	CTCF	chr10:19636600-19636750	HCM	heart:	n/a	n/a
35	CTCF	chr10:19636580-19636730	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr10:19598720-19598870	HPF	lung:	n/a	n/a
37	CTCF	chr10:19636704-19636812	A549	lung:	n/a	n/a
38	CTCF	chr10:19636594-19636843	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr10:19660058-19660144	GM13976	blood:	n/a	n/a
40	CTCF	chr10:19636579-19636870	GM12878	blood:	n/a	n/a
41	CTCF	chr10:19636540-19636690	HVMF	connective:	n/a	n/a
42	CTCF	chr10:19636660-19636810	NHLF	lung:	n/a	n/a
43	CTCF	chr10:19636640-19636790	BE2_C	brain:	n/a	n/a
44	CTCF	chr10:19636620-19636770	SAEC	small airway:	n/a	n/a
45	CTCF	chr10:19636525-19636844	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr10:19636660-19636810	AG09319	gingival:	n/a	n/a
47	CTCF	chr10:19636620-19636770	A549	lung:	n/a	n/a
48	CTCF	chr10:19636620-19636770	GM12878	blood:	n/a	n/a
49	CTCF	chr10:19636580-19636730	GM12874	blood:	n/a	n/a
50	CTCF	chr10:19636494-19636852	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
2	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
3	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:
4	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
5	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
6	chr10:19610336..19613284-chr14:35868183..35870740,2	MCF-7	breast:
7	chr10:19578194..19580695-chr10:19582089..19585004,2	K562	blood:
8	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:
9	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
10	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN6-6	chr10:19580351-19580409	XLOC_008744

Variant related genes	Relation type
MALRD1	TF binding region
ENSG00000227734	TF binding region
ENSG00000227734	chromatin interactions

Extended variants
information (count: 3921 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:3921 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1609614	chr10:19579806-19579807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567477943	chr10:19579851-19579852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534414902	chr10:19579857-19579858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143431702	chr10:19579894-19579895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552190015	chr10:19579902-19579903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577657844	chr10:19579925-19579926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192345425	chr10:19579930-19579931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147974892	chr10:19579982-19579983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564235138	chr10:19580151-19580152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542906922	chr10:19580166-19580167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs953510	chr10:19580334-19580335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372648462	chr10:19580339-19580340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183532938	chr10:19580413-19580414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11813469	chr10:19580422-19580423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141647044	chr10:19580431-19580432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4529806	chr10:19580436-19580437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533451566	chr10:19580445-19580446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562144239	chr10:19580461-19580462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551513167	chr10:19580470-19580471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538699325	chr10:19580487-19580488	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563673287	chr10:19580509-19580510	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531126873	chr10:19580548-19580549	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs16918471	chr10:19580562-19580563	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538483966	chr10:19580576-19580577	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs550214745	chr10:19580582-19580583	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs147163817	chr10:19580687-19580688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77278291	chr10:19580703-19580704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202001864	chr10:19580738-19580739	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547927995	chr10:19580784-19580785	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571281743	chr10:19580785-19580786	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187826141	chr10:19580812-19580813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369729707	chr10:19580843-19580844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs115889221	chr10:19580865-19580866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs117473823	chr10:19580868-19580869	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554950947	chr10:19580883-19580884	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs533176687	chr10:19580892-19580893	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs192439970	chr10:19580895-19580896	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs540091699	chr10:19580897-19580898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565071097	chr10:19580898-19580899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565753606	chr10:19580927-19580928	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2496061	chr10:19580989-19580990	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545451287	chr10:19580992-19580993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563344116	chr10:19580993-19580994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530857618	chr10:19581003-19581004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs548954329	chr10:19581005-19581006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370035245	chr10:19581010-19581011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs561276985	chr10:19581035-19581036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528737888	chr10:19581044-19581045	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs545973279	chr10:19581082-19581083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184494307	chr10:19581084-19581085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
2	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19573200-19580200	Weak transcription	Fetal Intestine Small	intestine
4	chr10:19579600-19580000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:19580000-19580800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr10:19580200-19580600	Enhancers	Fetal Intestine Small	intestine
7	chr10:19580200-19580600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr10:19580600-19587000	Weak transcription	Fetal Intestine Small	intestine
9	chr10:19582600-19582800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr10:19587000-19587400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:19587000-19587600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:19587000-19587600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:19587000-19587600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr10:19587000-19587800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:19587000-19587800	Strong transcription	Fetal Intestine Small	intestine
16	chr10:19587000-19589000	Strong transcription	Fetal Intestine Large	intestine
17	chr10:19587200-19587600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr10:19587200-19587600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:19587200-19587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
21	chr10:19588800-19590400	Weak transcription	NH-A	brain
22	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
23	chr10:19590400-19591600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:19590400-19591600	Enhancers	HMEC	breast
25	chr10:19590400-19591600	Enhancers	NHEK	skin
26	chr10:19590400-19591600	Enhancers	Osteobl	bone
27	chr10:19590400-19591800	Enhancers	NH-A	brain
28	chr10:19590800-19591200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:19591000-19591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:19591800-19593800	Weak transcription	NH-A	brain
31	chr10:19593800-19594600	Enhancers	NH-A	brain
32	chr10:19594600-19598600	Weak transcription	NH-A	brain
33	chr10:19596200-19603600	Weak transcription	HepG2	liver
34	chr10:19598600-19599600	Enhancers	NH-A	brain
35	chr10:19598800-19599800	Enhancers	Osteobl	bone
36	chr10:19599000-19599400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:19599200-19599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr10:19600800-19601200	Enhancers	Fetal Heart	heart
39	chr10:19608400-19608800	Strong transcription	Fetal Intestine Large	intestine
40	chr10:19608800-19621800	Weak transcription	Fetal Intestine Large	intestine
41	chr10:19612400-19614800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:19614400-19615200	Enhancers	NHEK	skin
43	chr10:19614800-19615000	Enhancers	Duodenum Mucosa	Duodenum
44	chr10:19615000-19657000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:19618600-19619000	Enhancers	HepG2	liver
46	chr10:19619000-19639400	Weak transcription	HepG2	liver
47	chr10:19621800-19622600	Strong transcription	Fetal Intestine Large	intestine
48	chr10:19622600-19635800	Weak transcription	Fetal Intestine Large	intestine
49	chr10:19635800-19638200	Strong transcription	Fetal Intestine Large	intestine
50	chr10:19637800-19638200	Strong transcription	Fetal Intestine Small	intestine

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