Variant report

Variant	esv3446871
Chromosome Location	chr7:39819477-39826200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:39825939-39826087	HepG2	liver:	n/a	chr7:39826051-39826062
2	CEBPB	chr7:39825964-39826087	K562	blood:	n/a	chr7:39826051-39826062
3	CEBPB	chr7:39825902-39826102	IMR90	lung:	n/a	chr7:39826051-39826062
4	CEBPB	chr7:39821141-39821517	IMR90	lung:	n/a	n/a
5	FOS	chr7:39821134-39821466	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:39821149-39821458	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:39821189-39821419	HUVEC	blood vessel:	n/a	n/a
8	FOS	chr7:39821146-39821466	MCF10A-Er-Src	breast:	n/a	n/a
9	GABPA	chr7:39826111-39826287	Hela-S3	cervix:	n/a	n/a
10	MYC	chr7:39821301-39821358	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:39821102-39821452	U87	brain:	n/a	n/a
12	REST	chr7:39826114-39826386	GM12878	blood:	n/a	n/a
13	REST	chr7:39826132-39826361	HepG2	liver:	n/a	n/a
14	REST	chr7:39826058-39826331	HCT-116	colon:	n/a	n/a
15	REST	chr7:39825944-39826398	Hela-S3	cervix:	n/a	n/a
16	REST	chr7:39825941-39826428	GM12878	blood:	n/a	n/a
17	REST	chr7:39826083-39826338	HL-60	blood:	n/a	n/a
18	REST	chr7:39826065-39826401	PANC-1	pancreas:	n/a	n/a
19	REST	chr7:39826095-39826321	HepG2	liver:	n/a	n/a
20	REST	chr7:39826099-39826359	SK-N-SH	brain:	n/a	n/a
21	REST	chr7:39825936-39826651	SK-N-SH	brain:	n/a	n/a
22	REST	chr7:39826016-39826360	HepG2	liver:	n/a	n/a
23	REST	chr7:39825960-39826683	PANC-1	pancreas:	n/a	n/a
24	REST	chr7:39825919-39826415	PFSK-1	brain:	n/a	n/a
25	REST	chr7:39826164-39826346	HL-60	blood:	n/a	n/a
26	REST	chr7:39826105-39826688	GM12878	blood:	n/a	n/a
27	REST	chr7:39826166-39826288	A549	lung:	n/a	n/a
28	REST	chr7:39826189-39826330	MCF-7	breast:	n/a	n/a
29	REST	chr7:39826072-39826360	U87	brain:	n/a	n/a
30	REST	chr7:39825950-39826699	U87	brain:	n/a	n/a
31	REST	chr7:39825921-39826338	PANC-1	pancreas:	n/a	n/a
32	REST	chr7:39825947-39826682	PFSK-1	brain:	n/a	n/a
33	REST	chr7:39825965-39826458	HepG2	liver:	n/a	n/a
34	REST	chr7:39826072-39826287	U87	brain:	n/a	n/a
35	REST	chr7:39826057-39826338	K562	blood:	n/a	n/a
36	REST	chr7:39826180-39826303	K562	blood:	n/a	n/a
37	REST	chr7:39825864-39826404	PFSK-1	brain:	n/a	n/a
38	REST	chr7:39826178-39826328	Hela-S3	cervix:	n/a	n/a
39	REST	chr7:39825951-39826459	U87	brain:	n/a	n/a
40	REST	chr7:39826184-39826332	HCT-116	colon:	n/a	n/a
41	REST	chr7:39826194-39826338	PANC-1	pancreas:	n/a	n/a
42	REST	chr7:39826074-39826418	PFSK-1	brain:	n/a	n/a
43	REST	chr7:39825943-39826370	SK-N-SH	brain:	n/a	n/a
44	REST	chr7:39826189-39826346	MCF-7	breast:	n/a	n/a
45	REST	chr7:39826175-39826331	PANC-1	pancreas:	n/a	n/a
46	REST	chr7:39825935-39826702	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr7:39826166-39826358	ECC-1	luminal epithelium:	n/a	n/a
48	REST	chr7:39825921-39826378	A549	lung:	n/a	n/a
49	REST	chr7:39825925-39826696	H1-hESC	embryonic stem cell:	n/a	n/a
50	REST	chr7:39826076-39826337	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALA-1	chr7:39822334-39822369	XLOC_006058
2	lnc-RALA-1	chr7:39822334-39822398	ENSG00000188185
3	lnc-RALA-1	chr7:39821288-39821495	ENSG00000188185
4	lnc-RALA-1	chr7:39820742-39821484	NONHSAT120225
5	lnc-RALA-1	chr7:39821706-39821711	XLOC_006058
6	lnc-RALA-1	chr7:39821161-39821484	XLOC_006058
7	lnc-RALA-1	chr7:39821161-39821495	XLOC_006058
8	lnc-RALA-1	chr7:39821343-39821627	XLOC_006058
9	lnc-RALA-1	chr7:39822334-39822369	XLOC_006058
10	lnc-RALA-1	chr7:39822334-39822346	NONHSAT120225
11	lnc-RALA-1	chr7:39820934-39820950	XLOC_006058
12	lnc-RALA-1	chr7:39820783-39821484	XLOC_006058

No data

Variant related genes	Relation type
LINC00265	TF binding region
TMED10	miRNA target sites

Extended variants
information (count: 288 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4052165	chr7:39819492-39819493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4052166	chr7:39819533-39819534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4052167	chr7:39819552-39819553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112980211	chr7:39819560-39819561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4052168	chr7:39819592-39819593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529665589	chr7:39819645-39819646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144918129	chr7:39819647-39819648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4052169	chr7:39819660-39819661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566326206	chr7:39819668-39819669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4052170	chr7:39819671-39819672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114183947	chr7:39819674-39819675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147548439	chr7:39819679-39819680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571496305	chr7:39819689-39819690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192506062	chr7:39819741-39819742	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557403152	chr7:39819821-39819822	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574070078	chr7:39819827-39819828	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536614202	chr7:39819835-39819836	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553101303	chr7:39819877-39819878	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199788466	chr7:39819932-39819933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573126365	chr7:39819955-39819956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536593828	chr7:39819959-39819960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13307880	chr7:39819982-39819983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545317354	chr7:39820024-39820025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60675085	chr7:39820043-39820044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565213886	chr7:39820094-39820095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575490198	chr7:39820119-39820120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376549340	chr7:39820120-39820121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369072931	chr7:39820152-39820153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183965247	chr7:39820154-39820155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188910882	chr7:39820183-39820184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529764694	chr7:39820224-39820225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61460724	chr7:39820226-39820227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552765761	chr7:39820227-39820228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59659128	chr7:39820241-39820242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1972521	chr7:39820245-39820246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115183524	chr7:39820271-39820272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59636765	chr7:39820285-39820286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559716186	chr7:39820287-39820288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150025549	chr7:39820294-39820295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368778741	chr7:39820375-39820376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528839176	chr7:39820379-39820380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192565157	chr7:39820384-39820385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547267176	chr7:39820401-39820402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184229613	chr7:39820445-39820446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142890753	chr7:39820449-39820450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145362549	chr7:39820473-39820474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550906242	chr7:39820481-39820482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149052292	chr7:39820539-39820540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142129861	chr7:39820554-39820555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188940774	chr7:39820555-39820556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
4	chr7:39794200-39820800	Weak transcription	Ovary	ovary
5	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:39795400-39833400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:39798200-39820800	Weak transcription	Esophagus	oesophagus
9	chr7:39798200-39831000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:39798400-39830800	Weak transcription	Fetal Intestine Small	intestine
11	chr7:39799000-39821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:39799800-39820400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:39801600-39820800	Weak transcription	Placenta	Placenta
14	chr7:39801600-39831600	Weak transcription	Gastric	stomach
15	chr7:39801600-39833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:39801800-39831000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:39801800-39831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:39802000-39830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:39802000-39835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:39802600-39820200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:39802600-39821200	Weak transcription	Adipose Nuclei	Adipose
22	chr7:39802600-39833000	Weak transcription	Dnd41	blood
23	chr7:39802800-39830800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:39802800-39835000	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:39803000-39820400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:39803000-39820800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:39803000-39824400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:39803400-39820200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:39803400-39832000	Weak transcription	Fetal Thymus	thymus
30	chr7:39803600-39820400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:39805200-39834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:39805400-39821000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:39805400-39831000	Weak transcription	Fetal Brain Female	brain
34	chr7:39805600-39823400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:39806000-39822800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:39806200-39820800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:39807400-39830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:39807800-39820200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:39807800-39821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:39807800-39830800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:39807800-39830800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:39807800-39830800	Weak transcription	Thymus	Thymus
43	chr7:39807800-39832800	Weak transcription	Brain Anterior Caudate	brain
44	chr7:39808200-39833000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:39808200-39833800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:39808400-39832800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:39808400-39833200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:39808600-39820400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:39809400-39830800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:39810200-39831400	Weak transcription	Lung	lung

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