Variant report

Variant	esv3330177
Chromosome Location	chr5:101716102-101735562
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	CTCF	chr5:101722500-101722650	GM12869	blood:	n/a	n/a
2	CTCF	chr5:101721932-101721948	GM10266	blood:	n/a	n/a
3	FOS	chr5:101735005-101735205	HUVEC	blood vessel:	n/a	n/a
4	FOS	chr5:101715881-101716150	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
5	FOS	chr5:101715910-101716183	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
6	JUN	chr5:101724654-101724662	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr5:101729769-101729795	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr5:101715934-101716200	HepG2	liver:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716056-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
9	KAP1	chr5:101720965-101721393	HEK293	kidney:	n/a	n/a
10	MAFF	chr5:101716623-101716819	HepG2	liver:	n/a	chr5:101716706-101716724
11	MAFK	chr5:101716545-101716819	HepG2	liver:	n/a	chr5:101716554-101716565
12	MAFK	chr5:101722937-101723008	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:101722270-101722352	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:101722373-101722391	MCF-7	breast:	n/a	n/a
15	POLR2A	chr5:101722260-101722265	MCF-7	breast:	n/a	n/a
16	POLR2A	chr5:101719246-101719366	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:101724735-101724781	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:101733958-101734033	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:101723877-101723882	MCF10A-Er-Src	breast:	n/a	n/a
20	SETDB1	chr5:101721065-101721422	U2OS	brain:	n/a	n/a
21	STAT3	chr5:101733037-101733181	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr5:101722986-101723105	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr5:101720001-101720175	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr5:101726361-101726462	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:101709356..101712161-chr5:101716526..101719065,2	MCF-7	breast:
2	chr5:101725894..101726537-chr6:67534604..67535331,2	MCF-7	breast:
3	chr5:101721756..101723696-chr5:101735841..101738611,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO4C1-1	chr5:101726685-101726933	NONHSAT103025
2	lnc-SLCO4C1-1	chr5:101724392-101724529	NONHSAT103025

Variant related genes	Relation type
SLCO6A1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527642294	chr5:101722021-101722022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552302184	chr5:101722074-101722075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564008579	chr5:101722075-101722076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184350917	chr5:101722087-101722088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549558944	chr5:101722089-101722090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567964050	chr5:101722118-101722119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72779936	chr5:101722121-101722122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77519531	chr5:101722134-101722135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28786103	chr5:101722151-101722152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78530799	chr5:101722161-101722162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116074157	chr5:101722175-101722176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557816064	chr5:101722182-101722183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577597029	chr5:101722199-101722200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199624995	chr5:101724427-101724428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373305545	chr5:101724429-101724430	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs139236845	chr5:101724442-101724443	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs182381825	chr5:101724443-101724444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs10055840	chr5:101724448-101724449	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189059706	chr5:101724461-101724462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs72779942	chr5:101724472-101724473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs140805258	chr5:101724473-101724474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs201586744	chr5:101724484-101724485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs370646896	chr5:101724487-101724488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs575398331	chr5:101724498-101724499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs200616195	chr5:101726735-101726736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150169825	chr5:101726744-101726745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs201025529	chr5:101726768-101726769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs10073892	chr5:101726770-101726771	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
29	rs540816487	chr5:101726824-101726825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs139875949	chr5:101726830-101726831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs1452065	chr5:101726851-101726852	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577413198	chr5:101726902-101726903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs544671174	chr5:101726930-101726931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563319198	chr5:101729788-101729789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101722000-101722200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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