Variant report

Variant	nsv1040444
Chromosome Location	chr10:19543975-19602019
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	BACH1	chr10:19591069-19591317	K562	blood:	n/a	n/a
2	BACH1	chr10:19590996-19591316	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:19593499-19593740	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:19589028-19589280	HepG2	liver:	n/a	n/a
5	CEBPB	chr10:19589005-19589242	IMR90	lung:	n/a	n/a
6	CTCF	chr10:19565919-19565946	ProgFib	skin:	n/a	n/a
7	CTCF	chr10:19551437-19551481	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr10:19567739-19567782	GM10266	blood:	n/a	n/a
9	CTCF	chr10:19598720-19598870	HPF	lung:	n/a	n/a
10	E2F4	chr10:19578140-19578278	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr10:19591025-19591363	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr10:19583228-19583498	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr10:19590337-19591600	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr10:19590915-19591538	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr10:19580894-19580902	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr10:19583245-19583438	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr10:19590929-19591474	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:19590565-19591652	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr10:19580724-19581056	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr10:19583156-19583517	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr10:19580756-19581055	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr10:19591029-19591403	SK-N-SH	brain:	n/a	n/a
23	FOSL2	chr10:19590936-19591471	MCF-7	breast:	n/a	n/a
24	FOSL2	chr10:19590999-19591459	MCF-7	breast:	n/a	n/a
25	GATA3	chr10:19581301-19581421	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr10:19566945-19567151	SH-SY5Y	brain:	n/a	n/a
27	JUN	chr10:19590999-19591362	HepG2	liver:	n/a	n/a
28	JUND	chr10:19591024-19591382	HepG2	liver:	n/a	chr10:19591201-19591212 chr10:19591161-19591172 chr10:19591189-19591200
29	JUND	chr10:19590950-19591429	MCF-7	breast:	n/a	chr10:19591201-19591212 chr10:19591161-19591172 chr10:19591189-19591200
30	JUND	chr10:19591039-19591505	SK-N-SH	brain:	n/a	chr10:19591201-19591212 chr10:19591161-19591172 chr10:19591189-19591200
31	JUND	chr10:19591075-19591144	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr10:19591032-19591384	Hela-S3	cervix:	n/a	chr10:19591201-19591212 chr10:19591161-19591172 chr10:19591189-19591200
33	MAFF	chr10:19590983-19591374	HepG2	liver:	n/a	chr10:19591161-19591179
34	MAFF	chr10:19591015-19591290	K562	blood:	n/a	chr10:19591161-19591179
35	MAFF	chr10:19565263-19565564	HepG2	liver:	n/a	chr10:19565423-19565441
36	MAFF	chr10:19552264-19552528	HepG2	liver:	n/a	n/a
37	MAFK	chr10:19593704-19593776	HepG2	liver:	n/a	n/a
38	MAFK	chr10:19590986-19591376	Hela-S3	cervix:	n/a	chr10:19591162-19591177
39	MAFK	chr10:19590995-19591301	H1-hESC	embryonic stem cell:	n/a	chr10:19591162-19591177
40	MAFK	chr10:19593698-19593898	HepG2	liver:	n/a	n/a
41	MAFK	chr10:19545524-19545615	HepG2	liver:	n/a	n/a
42	MAFK	chr10:19565294-19565604	IMR90	lung:	n/a	chr10:19565429-19565440 chr10:19565429-19565440 chr10:19565424-19565439 chr10:19565420-19565437 chr10:19565428-19565439
43	MAFK	chr10:19590990-19591295	K562	blood:	n/a	chr10:19591162-19591177
44	MAFK	chr10:19565263-19565601	HepG2	liver:	n/a	chr10:19565429-19565440 chr10:19565429-19565440 chr10:19565424-19565439 chr10:19565420-19565437 chr10:19565428-19565439
45	MAFK	chr10:19552248-19552494	IMR90	lung:	n/a	n/a
46	MAFK	chr10:19590979-19591354	HepG2	liver:	n/a	chr10:19591162-19591177
47	MAFK	chr10:19590962-19591594	IMR90	lung:	n/a	chr10:19591162-19591177
48	MAFK	chr10:19590992-19591355	HepG2	liver:	n/a	chr10:19591162-19591177
49	MAFK	chr10:19552220-19552547	HepG2	liver:	n/a	n/a
50	MAFK	chr10:19552220-19552544	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
2	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
3	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:
4	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:
5	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
6	chr10:19544299..19547180-chr10:19549327..19551757,2	MCF-7	breast:
7	chr10:19578194..19580695-chr10:19582089..19585004,2	K562	blood:
8	chr10:19534164..19535892-chr10:19543312..19545061,2	MCF-7	breast:
9	chr10:19551633..19554617-chr10:19556322..19558693,2	K562	blood:
10	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
11	chr10:19547526..19550166-chr10:19551019..19552884,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN6-6	chr10:19580351-19580409	XLOC_008744
2	lnc-NSUN6-6	chr10:19579152-19579395	XLOC_008744

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

Extended variants
information (count: 2672 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:2672 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12258062	chr10:19543975-19543976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535832902	chr10:19543978-19543979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554188241	chr10:19543981-19543982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11009149	chr10:19543985-19543986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11009150	chr10:19544001-19544002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145655858	chr10:19544010-19544011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576939594	chr10:19544025-19544026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541260710	chr10:19544053-19544054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181609904	chr10:19544075-19544076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563756273	chr10:19544077-19544078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575850314	chr10:19544083-19544084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185730214	chr10:19544101-19544102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561290656	chr10:19544110-19544111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12251479	chr10:19544126-19544127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs61355800	chr10:19544146-19544147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148504309	chr10:19544154-19544155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550802003	chr10:19544155-19544156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144231348	chr10:19544158-19544159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190245870	chr10:19544173-19544174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111907802	chr10:19544174-19544175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146575701	chr10:19544184-19544185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373312257	chr10:19544223-19544224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141299254	chr10:19544244-19544245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12253171	chr10:19544248-19544249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372597660	chr10:19544258-19544259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376199751	chr10:19544266-19544267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182456387	chr10:19544268-19544269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145087235	chr10:19544282-19544283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530435741	chr10:19544287-19544288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11009153	chr10:19544313-19544314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574689560	chr10:19544320-19544321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370096755	chr10:19544328-19544329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151304154	chr10:19544330-19544331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573164849	chr10:19544430-19544431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540300586	chr10:19544443-19544444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374653479	chr10:19544528-19544529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140587738	chr10:19544547-19544548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373446033	chr10:19544548-19544549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186111000	chr10:19544553-19544554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532591027	chr10:19544563-19544564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191066141	chr10:19544575-19544576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182357486	chr10:19544653-19544654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111842340	chr10:19544704-19544705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536927798	chr10:19544717-19544718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74121407	chr10:19544792-19544793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548240383	chr10:19544804-19544805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189134362	chr10:19544821-19544822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527263688	chr10:19544850-19544851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56262059	chr10:19544856-19544857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs193027071	chr10:19544861-19544862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19504000-19546600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19538000-19572800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19543000-19547200	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19545400-19546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:19546600-19548000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr10:19547000-19549800	Weak transcription	HepG2	liver
7	chr10:19547200-19548600	Strong transcription	Fetal Intestine Large	intestine
8	chr10:19548000-19558200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
10	chr10:19558200-19560200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr10:19559600-19560000	Enhancers	Fetal Brain Male	brain
12	chr10:19560200-19561400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:19561400-19561800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr10:19561800-19572200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:19572200-19573000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr10:19572800-19573200	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:19573200-19580200	Weak transcription	Fetal Intestine Small	intestine
19	chr10:19579200-19579600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr10:19579600-19580000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:19580000-19580800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr10:19580200-19580600	Enhancers	Fetal Intestine Small	intestine
23	chr10:19580200-19580600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr10:19580600-19587000	Weak transcription	Fetal Intestine Small	intestine
25	chr10:19582600-19582800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr10:19587000-19587400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr10:19587000-19587600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:19587000-19587600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr10:19587000-19587600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr10:19587000-19587800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr10:19587000-19587800	Strong transcription	Fetal Intestine Small	intestine
32	chr10:19587000-19589000	Strong transcription	Fetal Intestine Large	intestine
33	chr10:19587200-19587600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr10:19587200-19587600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:19587200-19587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
37	chr10:19588800-19590400	Weak transcription	NH-A	brain
38	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
39	chr10:19590400-19591600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:19590400-19591600	Enhancers	HMEC	breast
41	chr10:19590400-19591600	Enhancers	NHEK	skin
42	chr10:19590400-19591600	Enhancers	Osteobl	bone
43	chr10:19590400-19591800	Enhancers	NH-A	brain
44	chr10:19590800-19591200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:19591000-19591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:19591800-19593800	Weak transcription	NH-A	brain
47	chr10:19593800-19594600	Enhancers	NH-A	brain
48	chr10:19594600-19598600	Weak transcription	NH-A	brain
49	chr10:19596200-19603600	Weak transcription	HepG2	liver
50	chr10:19598600-19599600	Enhancers	NH-A	brain

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