Variant report

Variant	esv1793359
Chromosome Location	chr10:18841795-18872872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:325)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:18872609-18872929	K562	blood:	n/a	n/a
2	ARID3A	chr10:18871855-18872156	K562	blood:	n/a	n/a
3	ARID3A	chr10:18855015-18855499	HepG2	liver:	n/a	n/a
4	ARID3A	chr10:18852867-18853155	HepG2	liver:	n/a	n/a
5	ARID3A	chr10:18850803-18851483	HepG2	liver:	n/a	n/a
6	ARID3A	chr10:18847006-18847183	HepG2	liver:	n/a	n/a
7	ARID3A	chr10:18854097-18854130	HepG2	liver:	n/a	n/a
8	ARID3A	chr10:18843485-18843910	HepG2	liver:	n/a	n/a
9	ATF1	chr10:18871829-18872244	K562	blood:	n/a	n/a
10	BRCA1	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
11	BRCA1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr10:18860127-18860500	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr10:18866717-18867121	K562	blood:	n/a	n/a
14	CBX3	chr10:18866819-18867030	K562	blood:	n/a	n/a
15	CEBPB	chr10:18854245-18854618	K562	blood:	n/a	n/a
16	CEBPB	chr10:18872595-18872894	K562	blood:	n/a	n/a
17	CEBPB	chr10:18855132-18855383	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
19	CHD2	chr10:18854418-18854541	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr10:18872620-18872770	Caco-2	colon:	n/a	n/a
21	CTCF	chr10:18872580-18872730	K562	blood:	n/a	n/a
22	CTCF	chr10:18872486-18872791	A549	lung:	n/a	n/a
23	CTCF	chr10:18872600-18872750	GM12870	blood:	n/a	n/a
24	CTCF	chr10:18872600-18872750	AG04449	skin:	n/a	n/a
25	CTCF	chr10:18872600-18872750	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr10:18872540-18872690	GM12872	blood:	n/a	n/a
27	CTCF	chr10:18872580-18872730	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr10:18872560-18872710	GM12873	blood:	n/a	n/a
29	CTCF	chr10:18872561-18872799	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr10:18872560-18872710	GM12869	blood:	n/a	n/a
31	CTCF	chr10:18872817-18873191	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr10:18872533-18872823	IMR90	lung:	n/a	n/a
33	CTCF	chr10:18872580-18872730	HMF	breast:	n/a	n/a
34	CTCF	chr10:18872620-18872770	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr10:18872540-18872690	AG09319	gingival:	n/a	n/a
36	CTCF	chr10:18872620-18872770	AG04450	lung:	n/a	n/a
37	CTCF	chr10:18872540-18872690	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr10:18872491-18872834	GM12878	blood:	n/a	n/a
39	CTCF	chr10:18872660-18872810	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr10:18872620-18872770	GM12875	blood:	n/a	n/a
41	CTCF	chr10:18870166-18870282	GM20000	blood:	n/a	n/a
42	CTCF	chr10:18872620-18872770	NHEK	skin:	n/a	n/a
43	CTCF	chr10:18872600-18872750	AG04450	lung:	n/a	n/a
44	CTCF	chr10:18872620-18872770	GM12878	blood:	n/a	n/a
45	CTCF	chr10:18872540-18872690	HCM	heart:	n/a	n/a
46	CTCF	chr10:18872640-18872790	GM12878	blood:	n/a	n/a
47	CTCF	chr10:18872600-18872750	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr10:18872598-18872757	K562	blood:	n/a	n/a
49	CTCF	chr10:18872800-18872950	GM12866	blood:	n/a	n/a
50	CTCF	chr10:18872660-18872810	GM12865	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18872028..18874928-chr10:18946049..18948722,4	K562	blood:
2	chr10:18871041..18872755-chr10:18938799..18941399,2	K562	blood:

No data

Variant related genes	Relation type
NSUN6	TF binding region
ENSG00000241058	chromatin interactions
ENSG00000152487	chromatin interactions
ENSG00000165997	chromatin interactions

Extended variants
information (count: 1866 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1866 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10828906	chr10:18841795-18841796	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371192997	chr10:18841868-18841869	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62648395	chr10:18841887-18841888	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs185392102	chr10:18841892-18841893	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs576833069	chr10:18841898-18841899	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62648396	chr10:18841927-18841928	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148552846	chr10:18841959-18841960	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563017122	chr10:18841979-18841980	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs530206562	chr10:18841987-18841988	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548793572	chr10:18842003-18842004	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs147735124	chr10:18842044-18842045	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528032631	chr10:18842045-18842046	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111208083	chr10:18842047-18842048	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541224719	chr10:18842059-18842060	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537855517	chr10:18842065-18842066	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549581941	chr10:18842074-18842075	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9418530	chr10:18842087-18842088	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568173816	chr10:18842102-18842103	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144974510	chr10:18842107-18842108	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553971485	chr10:18842109-18842110	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572002797	chr10:18842118-18842119	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376027399	chr10:18842147-18842148	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539305071	chr10:18842160-18842161	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs111217846	chr10:18842177-18842178	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs191175242	chr10:18842181-18842182	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576793954	chr10:18842182-18842183	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs544617672	chr10:18842198-18842199	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147560567	chr10:18842223-18842224	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs562820575	chr10:18842236-18842237	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs574911836	chr10:18842252-18842253	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs542048960	chr10:18842253-18842254	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs11014852	chr10:18842336-18842337	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150109327	chr10:18842337-18842338	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548222301	chr10:18842373-18842374	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs199624334	chr10:18842408-18842409	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs144550477	chr10:18842413-18842414	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142860912	chr10:18842415-18842416	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141358802	chr10:18842420-18842421	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138703295	chr10:18842421-18842422	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200343343	chr10:18842424-18842425	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529028209	chr10:18842428-18842429	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200672017	chr10:18842438-18842439	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs562916797	chr10:18842439-18842440	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs182544772	chr10:18842457-18842458	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557604410	chr10:18842462-18842463	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62648398	chr10:18842499-18842500	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569644038	chr10:18842508-18842509	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62648399	chr10:18842514-18842515	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs62648400	chr10:18842517-18842518	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs114382035	chr10:18842518-18842519	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18815200-18843600	Weak transcription	A549	lung
2	chr10:18816400-18841800	Strong transcription	Liver	Liver
3	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:18822800-18841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:18824200-18846200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr10:18824200-18850600	Weak transcription	NHLF	lung
7	chr10:18825600-18841800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:18827200-18842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:18827200-18845200	Weak transcription	NHEK	skin
10	chr10:18828600-18841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:18828600-18841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:18828600-18841800	Weak transcription	Pancreas	Pancrea
13	chr10:18828600-18843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:18828600-18843400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:18828600-18844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:18828600-18845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:18828800-18846000	Weak transcription	Spleen	Spleen
18	chr10:18829000-18841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
20	chr10:18829800-18844000	Weak transcription	Brain Angular Gyrus	brain
21	chr10:18830000-18842000	Weak transcription	Fetal Brain Female	brain
22	chr10:18830000-18842400	Weak transcription	Brain Germinal Matrix	brain
23	chr10:18830200-18841800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:18830200-18841800	Weak transcription	Aorta	Aorta
25	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
26	chr10:18830400-18841800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:18830400-18841800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:18830400-18841800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:18830400-18841800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:18830400-18841800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:18830400-18841800	Weak transcription	Brain Substantia Nigra	brain
32	chr10:18830400-18841800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:18830400-18843000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:18830400-18856600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr10:18830600-18841800	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:18830600-18841800	Weak transcription	Placenta	Placenta
37	chr10:18830600-18841800	Weak transcription	Gastric	stomach
38	chr10:18830600-18842200	Weak transcription	Small Intestine	intestine
39	chr10:18830600-18845000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:18830600-18846600	Weak transcription	NH-A	brain
41	chr10:18831000-18841800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:18831000-18846000	Weak transcription	Lung	lung
43	chr10:18831000-18850200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:18832200-18841800	Weak transcription	Fetal Kidney	kidney
45	chr10:18832400-18842400	Weak transcription	HepG2	liver
46	chr10:18832400-18843000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:18834000-18842000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr10:18834400-18847800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr10:18835000-18841800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr10:18835000-18842600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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