Variant report

Variant	nsv947761
Chromosome Location	chr10:20070478-20072637
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	chr10:20071675-20072169	HepG2	liver:	n/a	n/a
2	EP300	chr10:20071629-20072056	HepG2	liver:	n/a	n/a
3	EP300	chr10:20071620-20071943	HepG2	liver:	n/a	n/a
4	FOXA1	chr10:20071602-20072078	HepG2	liver:	n/a	n/a
5	FOXA1	chr10:20071629-20071982	HepG2	liver:	n/a	n/a
6	FOXA1	chr10:20071670-20072015	HepG2	liver:	n/a	n/a
7	FOXA2	chr10:20071664-20072015	HepG2	liver:	n/a	n/a
8	HNF4A	chr10:20071704-20072072	HepG2	liver:	n/a	chr10:20071814-20071826 chr10:20071811-20071829 chr10:20071814-20071826 chr10:20071813-20071825 chr10:20071814-20071826 chr10:20071813-20071826 chr10:20071809-20071831 chr10:20071814-20071827 chr10:20071812-20071827
9	HNF4A	chr10:20071644-20071985	HepG2	liver:	n/a	chr10:20071814-20071826 chr10:20071811-20071829 chr10:20071814-20071826 chr10:20071813-20071825 chr10:20071814-20071826 chr10:20071813-20071826 chr10:20071809-20071831 chr10:20071814-20071827 chr10:20071812-20071827
10	HNF4A	chr10:20071585-20072020	HepG2	liver:	n/a	chr10:20071814-20071826 chr10:20071811-20071829 chr10:20071814-20071826 chr10:20071813-20071825 chr10:20071814-20071826 chr10:20071813-20071826 chr10:20071809-20071831 chr10:20071814-20071827 chr10:20071812-20071827
11	HNF4G	chr10:20071693-20071967	HepG2	liver:	n/a	chr10:20071814-20071826 chr10:20071813-20071828 chr10:20071811-20071829 chr10:20071814-20071826 chr10:20071813-20071825 chr10:20071814-20071826 chr10:20071813-20071826 chr10:20071809-20071831 chr10:20071814-20071827
12	MAZ	chr10:20072000-20072192	HepG2	liver:	n/a	n/a
13	RAD21	chr10:20071814-20072005	HepG2	liver:	n/a	n/a
14	RCOR1	chr10:20071428-20071493	HepG2	liver:	n/a	n/a
15	RFX5	chr10:20071270-20071334	HepG2	liver:	n/a	n/a
16	SMC3	chr10:20071752-20071989	HepG2	liver:	n/a	n/a
17	TEAD4	chr10:20071484-20072042	HepG2	liver:	n/a	n/a
18	USF2	chr10:20071732-20071932	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:20062593..20064356-chr10:20069733..20072314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212072	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369339888	chr10:20070482-20070483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575797782	chr10:20070520-20070521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560161964	chr10:20070536-20070537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77930811	chr10:20070541-20070542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190803719	chr10:20070552-20070553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181949244	chr10:20070574-20070575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142852811	chr10:20070588-20070589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562142782	chr10:20070594-20070595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532641040	chr10:20070610-20070611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116991974	chr10:20070666-20070667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77617601	chr10:20070679-20070680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551279754	chr10:20070697-20070698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562898325	chr10:20070704-20070705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529858217	chr10:20070714-20070715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76300005	chr10:20070720-20070721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566451684	chr10:20070733-20070734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373386455	chr10:20070745-20070746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527610942	chr10:20070763-20070764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151065842	chr10:20070809-20070810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529928074	chr10:20070835-20070836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570155369	chr10:20070846-20070847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537945811	chr10:20070851-20070852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551601805	chr10:20070884-20070885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555992258	chr10:20070893-20070894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184938069	chr10:20070945-20070946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58880515	chr10:20070969-20070970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145134615	chr10:20071023-20071024	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533750554	chr10:20071029-20071030	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs189756411	chr10:20071049-20071050	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114327085	chr10:20071093-20071094	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549206870	chr10:20071119-20071120	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567114427	chr10:20071156-20071157	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577172271	chr10:20071159-20071160	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76419820	chr10:20071166-20071167	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140736927	chr10:20071186-20071187	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541638923	chr10:20071187-20071188	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368266919	chr10:20071238-20071239	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377269677	chr10:20071309-20071310	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs527574098	chr10:20071322-20071323	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs552102094	chr10:20071326-20071327	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570069682	chr10:20071338-20071339	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373917507	chr10:20071354-20071355	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs182790641	chr10:20071362-20071363	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34195044	chr10:20071398-20071399	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535569720	chr10:20071399-20071400	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548789037	chr10:20071414-20071415	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570928358	chr10:20071445-20071446	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538367255	chr10:20071446-20071447	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs56137325	chr10:20071452-20071453	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534445893	chr10:20071502-20071503	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	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
Intracranial aneurysm	16715129	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
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20046200-20080800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:20069800-20070800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr10:20070000-20071200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr10:20070200-20077000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:20070600-20073000	Enhancers	HepG2	liver
6	chr10:20070800-20072000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:20071000-20072000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:20071200-20071600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:20071200-20071600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr10:20071600-20073600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr10:20071600-20073800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr10:20071800-20072000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:20072000-20075800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:20072400-20073000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:20072600-20073400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr10:20072600-20073400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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