Variant report

Variant	nsv1054604
Chromosome Location	chr10:43499167-43532031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:65)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:43511982..43514503-chr10:43520094..43521790,2	MCF-7	breast:
2	chr10:43521617..43522540-chr10:43581453..43582423,6	MCF-7	breast:
3	chr10:43521470..43522630-chr10:43533126..43534089,18	MCF-7	breast:
4	chr10:43517249..43519024-chr10:43519060..43521993,5	MCF-7	breast:
5	chr10:43523012..43526703-chr10:43531691..43534469,3	MCF-7	breast:
6	chr10:43521523..43522449-chr10:43577293..43578240,8	MCF-7	breast:
7	chr10:43472378..43475581-chr10:43520718..43522410,3	MCF-7	breast:
8	chr10:43520346..43523029-chr10:43587909..43590894,3	MCF-7	breast:
9	chr10:43517249..43519024-chr10:43519060..43521993,5	MCF-7	breast:
10	chr10:43521977..43523730-chr10:43523968..43526061,2	MCF-7	breast:
11	chr10:43524061..43526790-chr10:43533967..43536735,3	K562	blood:
12	chr10:43476496..43477680-chr10:43521631..43522494,5	MCF-7	breast:
13	chr10:43521558..43522630-chr10:43533126..43534073,11	MCF-7	breast:
14	chr10:43521853..43522545-chr10:43539851..43540728,3	MCF-7	breast:
15	chr10:43495233..43497382-chr10:43502437..43504369,2	MCF-7	breast:
16	chr10:43521557..43522557-chr10:43605823..43606953,34	MCF-7	breast:
17	chr10:43521554..43522492-chr10:43543717..43544592,2	MCF-7	breast:
18	chr10:43476360..43477727-chr10:43521597..43522461,10	MCF-7	breast:
19	chr10:43521503..43524600-chr10:43558785..43561738,3	MCF-7	breast:
20	chr10:43522082..43523941-chr10:43632029..43633686,2	MCF-7	breast:
21	chr10:43521915..43522534-chr10:43604245..43605068,2	MCF-7	breast:
22	chr10:43521692..43522431-chr10:43533033..43534182,6	MCF-7	breast:
23	chr10:43476360..43477929-chr10:43521585..43522547,22	MCF-7	breast:
24	chr10:43521578..43522089-chr10:51547030..51547754,2	MCF-7	breast:
25	chr10:43450408..43453024-chr10:43497080..43499917,2	K562	blood:
26	chr10:43509037..43511424-chr10:43519957..43522490,2	MCF-7	breast:
27	chr10:43520674..43522630-chr10:43627624..43629272,2	MCF-7	breast:
28	chr10:43531524..43548583-chr10:43564333..43580527,54	MCF-7	breast:
29	chr10:43531372..43534250-chr10:43534620..43536386,2	MCF-7	breast:
30	chr10:43521524..43522456-chr10:43605890..43606964,14	MCF-7	breast:
31	chr10:43364281..43367091-chr10:43516077..43518838,2	MCF-7	breast:
32	chr10:43521844..43522463-chr10:43539904..43540728,3	MCF-7	breast:
33	chr10:43531494..43533212-chr10:43549327..43551773,2	MCF-7	breast:
34	chr10:43523012..43526703-chr10:43531691..43534469,3	MCF-7	breast:
35	chr10:43481086..43483555-chr10:43520776..43523098,2	MCF-7	breast:
36	chr10:43521899..43522422-chr10:43563847..43564568,2	MCF-7	breast:
37	chr10:43516002..43526594-chr10:43563705..43585824,64	MCF-7	breast:
38	chr10:43523482..43525302-chr10:43587306..43589145,2	MCF-7	breast:
39	chr10:43365921..43366623-chr10:43521643..43522303,3	MCF-7	breast:
40	chr10:43521500..43522685-chr10:43605254..43606963,53	MCF-7	breast:
41	chr10:43526502..43530077-chr10:43530668..43533866,3	K562	blood:
42	chr10:43526502..43530077-chr10:43530668..43533866,3	K562	blood:
43	chr10:43521561..43522442-chr10:43555766..43556576,3	MCF-7	breast:
44	chr10:43521611..43522326-chr10:43577256..43578049,6	MCF-7	breast:
45	chr10:43474536..43476774-chr10:43520389..43522895,3	MCF-7	breast:
46	chr10:43509037..43511424-chr10:43519957..43522490,2	MCF-7	breast:
47	chr10:43494956..43496475-chr10:43498262..43500423,2	K562	blood:
48	chr10:43521977..43523730-chr10:43523968..43526061,2	MCF-7	breast:
49	chr10:43469610..43472857-chr10:43520371..43524809,5	MCF-7	breast:
50	chr10:43520913..43524676-chr10:43563115..43566179,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229630	chromatin interactions
ENSG00000165731	chromatin interactions
ENSG00000234944	chromatin interactions

Extended variants
information (count: 1249 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182661723	chr10:43499210-43499211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576937375	chr10:43499300-43499301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544205184	chr10:43499309-43499310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556451788	chr10:43499318-43499319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574378051	chr10:43499324-43499325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61845324	chr10:43499332-43499333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560113143	chr10:43499389-43499390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2506039	chr10:43499398-43499399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1254986	chr10:43499481-43499482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs564546525	chr10:43499524-43499525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187663704	chr10:43499529-43499530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142082881	chr10:43499547-43499548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550089531	chr10:43499564-43499565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568809638	chr10:43499600-43499601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529607916	chr10:43499602-43499603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151141576	chr10:43499604-43499605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190052818	chr10:43499630-43499631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533886234	chr10:43499648-43499649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79866908	chr10:43499709-43499710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36036345	chr10:43499745-43499746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570434859	chr10:43499763-43499764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538081190	chr10:43499794-43499795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376569421	chr10:43499825-43499826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538408809	chr10:43499881-43499882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149900187	chr10:43499882-43499883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533896204	chr10:43499975-43499976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541676012	chr10:43499981-43499982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139283900	chr10:43499992-43499993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78728460	chr10:43500010-43500011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553759543	chr10:43500050-43500051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572079720	chr10:43500103-43500104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370227844	chr10:43500115-43500116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35210726	chr10:43500126-43500127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77945794	chr10:43500137-43500138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182706382	chr10:43500164-43500165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34437993	chr10:43500165-43500166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564637860	chr10:43500191-43500192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531702059	chr10:43500200-43500201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544039553	chr10:43500203-43500204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61845325	chr10:43500207-43500208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117109905	chr10:43500212-43500213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548072535	chr10:43500234-43500235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146443322	chr10:43500249-43500250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527313517	chr10:43500271-43500272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539478015	chr10:43500354-43500355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112057246	chr10:43500372-43500373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570569680	chr10:43500373-43500374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576919480	chr10:43500383-43500384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112846284	chr10:43500384-43500385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192336264	chr10:43500408-43500409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43497000-43506000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:43504800-43513200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:43505000-43505600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:43506000-43506400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:43506000-43506400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:43506400-43508600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:43506400-43509800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:43507000-43507800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr10:43507000-43508000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:43507000-43509200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:43507200-43507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:43507200-43508000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:43507200-43508400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr10:43507200-43508800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:43507400-43507600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:43507400-43508000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr10:43507400-43508400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr10:43507600-43507800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr10:43507800-43508000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:43507800-43508600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr10:43508000-43508200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr10:43508000-43508600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:43508000-43508600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:43508000-43509000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:43508200-43508800	Enhancers	Primary T cells from cord blood	blood
26	chr10:43508200-43510400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr10:43508400-43508600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr10:43508400-43508800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr10:43508600-43508800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr10:43508600-43509000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr10:43508600-43509000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr10:43508600-43509000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:43508600-43510200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr10:43508600-43510400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr10:43508800-43509000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr10:43508800-43520800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr10:43509800-43510000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:43510000-43517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:43513200-43513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:43513800-43514200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:43514200-43514600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:43517200-43517600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:43517400-43518000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
44	chr10:43517600-43518200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:43517800-43518000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr10:43517800-43518000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr10:43518200-43518600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:43518600-43518800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:43518800-43520200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:43520200-43520400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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