Variant report

Variant	nsv1026571
Chromosome Location	chr7:109606488-109640021
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	CEBPB	chr7:109611839-109612086	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:109624910-109625197	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:109611846-109612084	IMR90	lung:	n/a	n/a
4	CEBPB	chr7:109611851-109612073	A549	lung:	n/a	n/a
5	CTCF	chr7:109606520-109606670	NB4	blood:	n/a	n/a
6	E2F4	chr7:109629552-109629572	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr7:109624340-109625130	MCF10A-Er-Src	breast:	n/a	chr7:109624611-109624622
8	EP300	chr7:109623049-109624314	SK-N-SH	brain:	n/a	chr7:109623206-109623216 chr7:109624024-109624038 chr7:109624014-109624028 chr7:109624018-109624032
9	EP300	chr7:109623766-109624012	SK-N-SH_RA	brain:	n/a	n/a
10	FOS	chr7:109624759-109625110	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr7:109607485-109607740	MCF10A-Er-Src	breast:	n/a	chr7:109607627-109607636 chr7:109607627-109607634
12	FOS	chr7:109607518-109607827	MCF10A-Er-Src	breast:	n/a	chr7:109607627-109607636 chr7:109607627-109607634
13	FOS	chr7:109624737-109625044	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr7:109624844-109625094	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr7:109607520-109607818	MCF10A-Er-Src	breast:	n/a	chr7:109607627-109607636 chr7:109607627-109607634
16	FOS	chr7:109624673-109625108	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr7:109619154-109619308	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr7:109623734-109623975	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr7:109628784-109628875	SH-SY5Y	brain:	n/a	chr7:109628786-109628799
20	GATA3	chr7:109623657-109624192	SK-N-SH	brain:	n/a	n/a
21	JUN	chr7:109617513-109617673	K562	blood:	n/a	n/a
22	MAFF	chr7:109623818-109624051	HepG2	liver:	n/a	n/a
23	MAFK	chr7:109607916-109608244	IMR90	lung:	n/a	n/a
24	MAFK	chr7:109619120-109619323	HepG2	liver:	n/a	n/a
25	MAFK	chr7:109623760-109624059	HepG2	liver:	n/a	n/a
26	MAFK	chr7:109608055-109608115	K562	blood:	n/a	n/a
27	MAFK	chr7:109629719-109629993	HepG2	liver:	n/a	chr7:109629840-109629851 chr7:109629842-109629859 chr7:109629839-109629850
28	MAFK	chr7:109623786-109624009	IMR90	lung:	n/a	n/a
29	MAFK	chr7:109607970-109608181	HepG2	liver:	n/a	n/a
30	MAFK	chr7:109607935-109608264	HepG2	liver:	n/a	n/a
31	MAX	chr7:109624836-109625203	Hela-S3	cervix:	n/a	n/a
32	MAX	chr7:109626808-109627000	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr7:109606695-109606729	HepG2	liver:	n/a	n/a
34	MXI1	chr7:109624832-109625110	Hela-S3	cervix:	n/a	n/a
35	MYC	chr7:109622227-109622292	MCF-7	breast:	n/a	n/a
36	MYC	chr7:109610429-109610464	MCF10A-Er-Src	breast:	n/a	n/a
37	NFYB	chr7:109612465-109612627	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:109639072-109639079	A549	lung:	n/a	n/a
39	POLR2A	chr7:109608193-109608291	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr7:109610739-109610819	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr7:109632573-109632635	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr7:109639444-109639601	A549	lung:	n/a	n/a
43	POLR2A	chr7:109622393-109622523	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr7:109623281-109623447	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:109639084-109639097	A549	lung:	n/a	n/a
46	POLR2A	chr7:109618567-109618767	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:109620812-109620837	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:109618234-109618414	MCF-7	breast:	n/a	n/a
49	POLR2A	chr7:109610745-109610777	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:109607134-109607434	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:109621845..109625177-chr7:109626649..109628866,3	K562	blood:
2	chr7:109617231..109619713-chr7:109622419..109624214,3	K562	blood:
3	chr7:109621845..109625177-chr7:109626649..109628866,3	K562	blood:
4	chr7:109617231..109619713-chr7:109622419..109624214,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMMP2L-7	chr7:109638491-109639681	NONHSAT122757

Variant related genes	Relation type
RPL3P8	TF binding region

Extended variants
information (count: 316 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116841698	chr7:109620606-109620607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553081107	chr7:109620661-109620662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2523215	chr7:109620747-109620748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553058802	chr7:109620802-109620803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142245544	chr7:109620819-109620820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555101204	chr7:109620834-109620835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574945711	chr7:109620840-109620841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544061986	chr7:109620849-109620850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577711824	chr7:109620917-109620918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368118899	chr7:109620954-109620955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112851320	chr7:109620981-109620982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563850780	chr7:109621014-109621015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374400540	chr7:109621026-109621027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182112133	chr7:109621053-109621054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544981239	chr7:109621068-109621069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143029980	chr7:109621098-109621099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75620012	chr7:109621147-109621148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184381591	chr7:109621166-109621167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2523216	chr7:109621200-109621201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112428739	chr7:109621235-109621236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75981615	chr7:109621236-109621237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550823543	chr7:109621243-109621244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2523217	chr7:109621244-109621245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189211380	chr7:109621245-109621246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116897939	chr7:109621257-109621258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34550942	chr7:109621271-109621272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566566668	chr7:109621272-109621273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112960925	chr7:109621280-109621281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555188827	chr7:109621286-109621287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181883275	chr7:109621298-109621299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532686431	chr7:109621300-109621301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557619346	chr7:109621347-109621348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73433535	chr7:109621350-109621351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148182950	chr7:109621363-109621364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140238740	chr7:109621370-109621371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184927883	chr7:109621383-109621384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73195871	chr7:109621418-109621419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562061722	chr7:109621511-109621512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191196007	chr7:109621561-109621562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150323449	chr7:109621609-109621610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550534893	chr7:109621677-109621678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564360247	chr7:109621777-109621778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533309689	chr7:109621791-109621792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138439613	chr7:109621797-109621798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181277564	chr7:109621807-109621808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374148474	chr7:109621815-109621816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73716023	chr7:109621823-109621824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115234694	chr7:109621838-109621839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186696609	chr7:109621842-109621843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12113923	chr7:109621848-109621849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109620600-109621200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr7:109620800-109621200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr7:109620800-109621200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:109620800-109621400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:109621000-109621400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:109621200-109622200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:109621200-109622200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:109622200-109622600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr7:109622200-109622600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:109622200-109622800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr7:109622800-109623200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:109623200-109623400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:109624800-109625200	Enhancers	NHEK	skin
14	chr7:109624800-109625400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:109626400-109627200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:109626600-109627000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:109627600-109628800	Enhancers	Fetal Heart	heart
18	chr7:109635600-109636000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:109635600-109636200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:109639200-109639800	ZNF genes & repeats	Dnd41	blood
21	chr7:109639800-109641600	Weak transcription	Dnd41	blood

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