Variant report

Variant	nsv1046197
Chromosome Location	chr10:37200503-37333823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:37297179-37297340	GM12878	blood:	n/a	n/a
2	CCNT2	chr10:37249406-37249693	K562	blood:	n/a	n/a
3	CEBPB	chr10:37278836-37279148	HepG2	liver:	n/a	chr10:37279000-37279011
4	CEBPB	chr10:37237949-37238152	A549	lung:	n/a	n/a
5	CEBPB	chr10:37278874-37279042	K562	blood:	n/a	chr10:37279000-37279011
6	CEBPB	chr10:37210893-37211093	HepG2	liver:	n/a	chr10:37211036-37211047
7	CEBPB	chr10:37261121-37261440	IMR90	lung:	n/a	chr10:37261296-37261307
8	CEBPB	chr10:37261191-37261403	A549	lung:	n/a	chr10:37261296-37261307
9	CEBPB	chr10:37261148-37261473	HepG2	liver:	n/a	chr10:37261296-37261307
10	CEBPB	chr10:37237969-37238202	A549	lung:	n/a	n/a
11	CEBPB	chr10:37219070-37219172	HepG2	liver:	n/a	chr10:37219085-37219096 chr10:37219084-37219097
12	CEBPB	chr10:37278886-37279217	A549	lung:	n/a	chr10:37279000-37279011
13	CEBPB	chr10:37261129-37261444	K562	blood:	n/a	chr10:37261296-37261307
14	CEBPB	chr10:37237972-37238212	A549	lung:	n/a	n/a
15	CTCF	chr10:37283185-37283207	ProgFib	skin:	n/a	n/a
16	CTCF	chr10:37264137-37264224	LNCaP	prostate:	n/a	n/a
17	CTCF	chr10:37286977-37287048	A549	lung:	n/a	n/a
18	CTCF	chr10:37260483-37260503	GM10266	blood:	n/a	n/a
19	CTCF	chr10:37262383-37262456	LNCaP	prostate:	n/a	n/a
20	CTCF	chr10:37286995-37287014	Fibrobl	skin:	n/a	n/a
21	CTCF	chr10:37286969-37287037	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:37286948-37287062	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:37232565-37232589	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:37271103-37271163	GM10266	blood:	n/a	n/a
25	CTCF	chr10:37275440-37275590	SAEC	small airway:	n/a	n/a
26	CTCF	chr10:37201635-37201689	GM10266	blood:	n/a	n/a
27	CTCF	chr10:37321109-37321180	Lung_OC	lung:	n/a	n/a
28	CTCF	chr10:37299780-37299930	HEK293	kidney:	n/a	n/a
29	CTCF	chr10:37229442-37229467	GM20000	blood:	n/a	n/a
30	CTCF	chr10:37299845-37299870	MCF-7	breast:	n/a	n/a
31	CTCF	chr10:37299815-37299921	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:37262785-37262802	K562	blood:	n/a	n/a
33	CTCF	chr10:37299845-37299871	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:37286972-37287047	MCF-7	breast:	n/a	n/a
35	CTCF	chr10:37265980-37266130	GM12864	blood:	n/a	n/a
36	CTCF	chr10:37286962-37287052	MCF-7	breast:	n/a	n/a
37	CUX1	chr10:37266486-37266708	K562	blood:	n/a	n/a
38	CUX1	chr10:37208204-37208295	K562	blood:	n/a	n/a
39	E2F4	chr10:37307175-37307375	MCF10A-Er-Src	breast:	n/a	n/a
40	EGR1	chr10:37232106-37232318	GM12878	blood:	n/a	n/a
41	EP300	chr10:37297248-37297500	T-47D	breast:	n/a	n/a
42	FOXA1	chr10:37326974-37327206	A549	lung:	n/a	n/a
43	FOXA1	chr10:37333253-37333494	HepG2	liver:	n/a	n/a
44	FOXA2	chr10:37237867-37238141	A549	lung:	n/a	n/a
45	FOXA2	chr10:37333129-37333538	A549	lung:	n/a	n/a
46	FOXA2	chr10:37333087-37333541	A549	lung:	n/a	n/a
47	FOXA2	chr10:37237939-37238177	A549	lung:	n/a	n/a
48	GATA3	chr10:37297132-37297567	T-47D	breast:	n/a	n/a
49	GATA3	chr10:37296948-37297655	T-47D	breast:	n/a	n/a
50	GATA3	chr10:37217423-37217623	SH-SY5Y	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:37235121..37239271-chr11:80409881..80413135,3	MCF-7	breast:
2	chr10:37208048..37209567-chr11:80440650..80442220,2	MCF-7	breast:
3	chr10:37217089..37219743-chr11:80429674..80431478,2	MCF-7	breast:
4	chr10:37244571..37247312-chr11:80401108..80403233,2	MCF-7	breast:
5	chr10:37217861..37219763-chr11:80429962..80431912,2	MCF-7	breast:
6	chr1:35497113..35498838-chr10:37216380..37217889,2	MCF-7	breast:
7	chr1:235989326..235989978-chr10:37309298..37310202,2	MCF-7	breast:
8	chr10:37283222..37285279-chr10:37296781..37298372,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-4	chr10:37229037-37229118	XLOC_008452
2	lnc-ANKRD30A-11	chr10:37283951-37284513	NONHSAT012759
3	lnc-ANKRD30A-4	chr10:37232650-37232860	XLOC_008452

No data

Variant related genes	Relation type
ENSG00000238176	TF binding region
ARL6IP1P2	TF binding region
MKNK2P1	TF binding region
ENSG00000163867	chromatin interactions
ENSG00000271741	chromatin interactions
ENSG00000225355	chromatin interactions

Extended variants
information (count: 827 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79129431	chr10:37206004-37206005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571319099	chr10:37206014-37206015	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2950407	chr10:37206087-37206088	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145067312	chr10:37206102-37206103	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186638152	chr10:37206131-37206132	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs193292126	chr10:37206198-37206199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147560832	chr10:37206218-37206219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2995687	chr10:37206243-37206244	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545593818	chr10:37206269-37206270	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376380019	chr10:37206299-37206300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542649595	chr10:37206301-37206302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183666753	chr10:37206308-37206309	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs79727104	chr10:37206314-37206315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188662536	chr10:37206358-37206359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192842163	chr10:37206362-37206363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530097352	chr10:37206373-37206374	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549057022	chr10:37206389-37206390	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529282860	chr10:37216384-37216385	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191344056	chr10:37216394-37216395	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568361805	chr10:37216424-37216425	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537315636	chr10:37216481-37216482	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566162445	chr10:37216493-37216494	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544691491	chr10:37216505-37216506	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs77735300	chr10:37216515-37216516	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557222563	chr10:37216531-37216532	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs146123690	chr10:37216535-37216536	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs2488728	chr10:37216536-37216537	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79050995	chr10:37216554-37216555	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370578374	chr10:37216636-37216637	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553030602	chr10:37216640-37216641	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572804777	chr10:37216684-37216685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541818792	chr10:37216716-37216717	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34346003	chr10:37216726-37216727	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397733924	chr10:37216728-37216729	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551291366	chr10:37216735-37216736	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12416208	chr10:37216787-37216788	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544479807	chr10:37216813-37216814	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564372374	chr10:37216841-37216842	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187600863	chr10:37216905-37216906	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191162538	chr10:37216912-37216913	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540372191	chr10:37216918-37216919	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183325818	chr10:37216925-37216926	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529338596	chr10:37216995-37216996	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs118076438	chr10:37217010-37217011	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562719958	chr10:37217070-37217071	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs116216992	chr10:37217090-37217091	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550886534	chr10:37217152-37217153	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529967100	chr10:37217200-37217201	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs570708012	chr10:37217201-37217202	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199540119	chr10:37217203-37217204	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37206000-37206400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:37232200-37232600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:37232200-37232600	Enhancers	Placenta	Placenta
4	chr10:37269600-37270000	Enhancers	Placenta	Placenta
5	chr10:37274600-37275600	Enhancers	Adipose Nuclei	Adipose
6	chr10:37278000-37278800	ZNF genes & repeats	Placenta	Placenta
7	chr10:37278200-37278400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:37278600-37278800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:37281200-37281400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:37289000-37289200	Enhancers	Fetal Intestine Large	intestine
11	chr10:37289400-37290600	Weak transcription	Fetal Intestine Large	intestine
12	chr10:37290600-37291000	Enhancers	Fetal Intestine Large	intestine
13	chr10:37293000-37293600	Enhancers	Colon Smooth Muscle	Colon
14	chr10:37296800-37300800	Enhancers	Placenta	Placenta
15	chr10:37300800-37301200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr10:37302000-37302800	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:37302000-37306000	Enhancers	Colon Smooth Muscle	Colon
18	chr10:37302800-37303200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:37303200-37305800	Enhancers	Rectal Smooth Muscle	rectum
20	chr10:37303600-37305200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:37305800-37306400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr10:37306000-37306400	Weak transcription	Colon Smooth Muscle	Colon
23	chr10:37306400-37307200	Enhancers	Rectal Smooth Muscle	rectum
24	chr10:37306400-37307400	Enhancers	Colon Smooth Muscle	Colon
25	chr10:37307400-37307800	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:37307800-37308400	Enhancers	Colon Smooth Muscle	Colon
27	chr10:37313800-37314200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:37315600-37316800	Enhancers	Colon Smooth Muscle	Colon
29	chr10:37316200-37316800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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