Variant report

Variant	rs62510574
Chromosome Location	chr8:49838485-49838486
allele	A/G
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	chr8:49838130-49838534	Medullo	brain:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
2	STAT3	chr8:49838229-49838628	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr8:49837854-49839237	SK-N-SH	brain:	n/a	chr8:49838573-49838582
4	BRCA1	chr8:49838080-49838775	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr8:49837956-49838658	A549	lung:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
6	FOS	chr8:49838219-49838541	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr8:49838218-49838741	IMR90	lung:	n/a	chr8:49838410-49838421 chr8:49838411-49838422
8	CREB1	chr8:49838297-49838762	GM12878	blood:	n/a	chr8:49838571-49838584
9	JUND	chr8:49838186-49838811	K562	blood:	n/a	chr8:49838573-49838582
10	CTCF	chr8:49838191-49838726	Spleen_OC	spleen:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
11	BRCA1	chr8:49838446-49838653	GM12878	blood:	n/a	n/a
12	RAD21	chr8:49838110-49838535	A549	lung:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
13	CEBPB	chr8:49838113-49838796	A549	lung:	n/a	chr8:49838410-49838421 chr8:49838411-49838422
14	CTCF	chr8:49838055-49838588	A549	lung:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
15	CTCF	chr8:49838186-49838485	HepG2	liver:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
16	RAD21	chr8:49837442-49839138	SK-N-SH	brain:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
17	FOS	chr8:49838122-49838670	HUVEC	blood vessel:	n/a	chr8:49838573-49838582
18	JUND	chr8:49838158-49838748	GM12878	blood:	n/a	chr8:49838573-49838582
19	RAD21	chr8:49837829-49838736	MCF-7	breast:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
20	USF2	chr8:49838185-49838496	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr8:49838115-49838539	GM12878	blood:	n/a	n/a
22	CTCF	chr8:49838100-49838498	SK-N-SH_RA	brain:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
23	CREB1	chr8:49838139-49838802	H1-hESC	embryonic stem cell:	n/a	chr8:49838571-49838584
24	ATF1	chr8:49838233-49838998	K562	blood:	n/a	n/a
25	SMC3	chr8:49838099-49838580	HepG2	liver:	n/a	chr8:49838352-49838366
26	ATF2	chr8:49838148-49838726	GM12878	blood:	n/a	n/a
27	GATA3	chr8:49837743-49838608	MCF-7	breast:	n/a	chr8:49837843-49837853
28	BRCA1	chr8:49838202-49838581	H1-hESC	embryonic stem cell:	n/a	n/a
29	ELF1	chr8:49838406-49838795	K562	blood:	n/a	chr8:49838595-49838608
30	RAD21	chr8:49837869-49838614	A549	lung:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
31	CTCF	chr8:49838129-49838521	K562	blood:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
32	RAD21	chr8:49838097-49838523	ECC-1	luminal epithelium:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
33	CEBPB	chr8:49838237-49838674	HepG2	liver:	n/a	chr8:49838410-49838421 chr8:49838411-49838422
34	MYC	chr8:49838111-49838675	NB4	blood:	n/a	n/a
35	CTCF	chr8:49838141-49838522	A549	lung:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
36	JUND	chr8:49838039-49838944	Hela-S3	cervix:	n/a	chr8:49838573-49838582
37	RAD21	chr8:49838076-49838629	HepG2	liver:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
38	IRF3	chr8:49838156-49838511	GM12878	blood:	n/a	chr8:49838320-49838340 chr8:49838197-49838211
39	CTCF	chr8:49838154-49838492	K562	blood:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
40	CTCF	chr8:49837925-49838652	K562	blood:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
41	CTCF	chr8:49838084-49838612	K562	blood:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
42	CTCF	chr8:49838007-49838609	HepG2	liver:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
43	RAD21	chr8:49837826-49838791	HCT-116	colon:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
44	CREB1	chr8:49838206-49838878	K562	blood:	n/a	chr8:49838571-49838584
45	CTCF	chr8:49838340-49838490	HFF-Myc	foreskin:	n/a	chr8:49838357-49838364 chr8:49838351-49838367 chr8:49838350-49838368 chr8:49838352-49838365 chr8:49838345-49838366
46	RAD21	chr8:49838181-49838578	K562	blood:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
47	RAD21	chr8:49838033-49838584	H1-hESC	embryonic stem cell:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
48	JUN	chr8:49838071-49838754	HUVEC	blood vessel:	n/a	chr8:49838572-49838585 chr8:49838573-49838582
49	RAD21	chr8:49837964-49838618	HepG2	liver:	n/a	chr8:49838357-49838366 chr8:49838348-49838367
50	FOS	chr8:49838179-49838593	MCF10A-Er-Src	breast:	n/a	chr8:49838573-49838582

No.	Distal block	Cell Line	Cell type
1	chr8:48795937..48796818-chr8:49837936..49838689,2	MCF-7	breast:
2	chr8:49231059..49231908-chr8:49838295..49838841,2	K562	blood:
3	chr8:49236947..49237860-chr8:49837763..49838543,2	MCF-7	breast:
4	chr8:49231028..49232049-chr8:49837754..49838644,8	MCF-7	breast:
5	chr8:49084592..49085141-chr8:49837959..49838538,2	MCF-7	breast:
6	chr8:49426786..49427372-chr8:49837914..49838955,3	MCF-7	breast:
7	chr8:49084485..49085310-chr8:49837868..49838738,3	K562	blood:
8	chr8:49084388..49085321-chr8:49837765..49838724,3	MCF-7	breast:
9	chr8:49178987..49179896-chr8:49837365..49838730,6	MCF-7	breast:
10	chr8:49837099..49839896-chr8:49842697..49845711,3	K562	blood:
11	chr8:49233283..49233917-chr8:49838000..49838703,2	MCF-7	breast:
12	chr8:49183296..49184181-chr8:49838030..49838650,2	MCF-7	breast:
13	chr8:49668073..49669071-chr8:49837841..49838748,4	MCF-7	breast:
14	chr8:49235083..49235906-chr8:49837806..49838740,2	MCF-7	breast:

Variant related genes	Relation type
SNAI2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62508606	1.00[AFR][1000 genomes]
rs62510562	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49835000-49840200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr8:49835800-49838800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:49835800-49838800	Enhancers	HMEC	breast
4	chr8:49835800-49839000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:49836000-49838800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:49836200-49839200	Enhancers	Fetal Lung	lung
7	chr8:49836400-49838800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:49836600-49838800	Enhancers	Hela-S3	cervix
9	chr8:49836800-49838800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:49836800-49838800	Enhancers	NHEK	skin
11	chr8:49836800-49839000	Enhancers	Dnd41	blood
12	chr8:49836800-49843200	Weak transcription	Esophagus	oesophagus
13	chr8:49837600-49838600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:49837800-49838600	Enhancers	HUVEC	blood vessel
15	chr8:49837800-49838600	Enhancers	Osteobl	bone
16	chr8:49837800-49839000	Enhancers	NH-A	brain
17	chr8:49837800-49839200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:49837800-49846200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:49838000-49838600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:49838000-49839000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:49838000-49839000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:49838000-49840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:49838000-49841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:49838000-49841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:49838200-49838600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:49838200-49839000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:49838200-49839000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:49838200-49839000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:49838400-49838600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr8:49838400-49838600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:49838400-49838600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:49838400-49838600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr8:49838400-49838600	Enhancers	Stomach Mucosa	stomach
34	chr8:49838400-49838800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:49838400-49838800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:49838400-49838800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:49838400-49838800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:49838400-49838800	Active TSS	K562	blood

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