Variant report

Variant	rs6493048
Chromosome Location	chr15:42787459-42787460
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	ATF1	chr15:42787405-42788459	K562	blood:	n/a	n/a
2	STAT3	chr15:42787380-42787949	MCF10A-Er-Src	breast:	n/a	n/a
3	SIN3A	chr15:42787350-42788344	H1-hESC	embryonic stem cell:	n/a	chr15:42787848-42787857
4	POLR2A	chr15:42787126-42788645	K562	blood:	n/a	n/a
5	TCF12	chr15:42787456-42788195	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:42787099-42788295	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr15:42787355-42788134	HepG2	liver:	n/a	n/a
8	MAX	chr15:42787131-42788247	SK-N-SH	brain:	n/a	chr15:42788027-42788037
9	POLR2A	chr15:42787445-42788131	PANC-1	pancreas:	n/a	n/a
10	GABPA	chr15:42787099-42787981	SK-N-SH	brain:	n/a	chr15:42787827-42787841 chr15:42787804-42787818 chr15:42787827-42787836 chr15:42787824-42787838 chr15:42787827-42787838
11	POLR2A	chr15:42787213-42788439	H1-hESC	embryonic stem cell:	n/a	n/a
12	RCOR1	chr15:42787131-42788446	K562	blood:	n/a	n/a
13	POLR2A	chr15:42787359-42788381	GM12891	blood:	n/a	n/a
14	WRNIP1	chr15:42787291-42787495	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:42787244-42788220	GM18505	blood:	n/a	n/a
16	CREB1	chr15:42787419-42788217	HepG2	liver:	n/a	n/a
17	NFIC	chr15:42787356-42788407	GM12878	blood:	n/a	n/a
18	MAX	chr15:42787168-42788164	ECC-1	luminal epithelium:	n/a	chr15:42788027-42788037
19	POLR2A	chr15:42787187-42788045	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr15:42787068-42788146	U87	brain:	n/a	n/a
21	SIN3AK20	chr15:42787457-42788122	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr15:42787010-42788624	IMR90	lung:	n/a	n/a
23	MAX	chr15:42787362-42788252	A549	lung:	n/a	chr15:42788027-42788037
24	ARID3A	chr15:42787430-42787908	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:42787426-42788035	GM12891	blood:	n/a	n/a
26	ELK1	chr15:42787438-42787638	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr15:42787441-42787822	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr15:42787443-42788110	GM19099	blood:	n/a	n/a
29	STAT3	chr15:42787216-42787970	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr15:42787432-42788203	GM12892	blood:	n/a	n/a
31	SIN3AK20	chr15:42787400-42787953	A549	lung:	n/a	n/a
32	MXI1	chr15:42787031-42788435	IMR90	lung:	n/a	n/a
33	POLR2A	chr15:42787128-42788354	Hela-S3	cervix:	n/a	n/a
34	STAT5A	chr15:42787393-42788204	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr15:42787387-42788097	PFSK-1	brain:	n/a	n/a
36	GABPA	chr15:42787169-42787503	A549	lung:	n/a	n/a
37	STAT3	chr15:42787224-42787953	MCF10A-Er-Src	breast:	n/a	n/a
38	MXI1	chr15:42787425-42788033	K562	blood:	n/a	n/a
39	NR2F2	chr15:42787066-42788568	K562	blood:	n/a	n/a
40	ELK1	chr15:42787369-42788280	Hela-S3	cervix:	n/a	n/a
41	EP300	chr15:42787148-42788431	K562	blood:	n/a	n/a
42	POLR2A	chr15:42787014-42788172	HUVEC	blood vessel:	n/a	n/a
43	ZKSCAN1	chr15:42787310-42788280	Hela-S3	cervix:	n/a	n/a
44	HEY1	chr15:42787458-42788123	K562	blood:	n/a	chr15:42787819-42787834
45	FOS	chr15:42787229-42787936	MCF10A-Er-Src	breast:	n/a	n/a
46	MXI1	chr15:42787454-42788445	GM12878	blood:	n/a	n/a
47	SPI1	chr15:42787301-42788103	HL-60	blood:	n/a	chr15:42787793-42787806 chr15:42787795-42787804
48	RCOR1	chr15:42787442-42788366	K562	blood:	n/a	n/a
49	E2F4	chr15:42787334-42788093	MCF10A-Er-Src	breast:	n/a	chr15:42787786-42787801 chr15:42787828-42787837 chr15:42787754-42787763
50	FOS	chr15:42787225-42787852	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42781216..42785618-chr15:42786050..42793334,15	K562	blood:
2	chr15:42786881..42789392-chr15:42840485..42842780,2	K562	blood:
3	chr15:42785710..42787693-chr15:42866156..42868186,2	K562	blood:
4	chr15:42787392..42787982-chr19:58694254..58695080,2	Hela-S3	cervix:
5	chr15:42781833..42785082-chr15:42786422..42789177,6	MCF-7	breast:
6	chr15:42781216..42785097-chr15:42786050..42789793,8	K562	blood:
7	chr1:145470149..145471098-chr15:42787177..42787915,2	Hela-S3	cervix:
8	chr15:42787284..42788234-chr7:43622377..43623166,2	NB4	blood:

Variant related genes	Relation type
ZNF106	TF binding region
SNAP23	TF binding region
ENSG00000137814	Chromatin interaction
ENSG00000164543	Chromatin interaction
ENSG00000121851	Chromatin interaction
ENSG00000181039	Chromatin interaction
ENSG00000171606	Chromatin interaction
ENSG00000180979	Chromatin interaction
ENSG00000092531	Chromatin interaction
ENSG00000159433	Chromatin interaction
ENSG00000103994	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1044866	0.88[AFR][1000 genomes]
rs11541527	0.94[AFR][1000 genomes]
rs16973349	0.92[AFR][1000 genomes]
rs36090286	0.84[AFR][1000 genomes]
rs5009460	0.92[AFR][1000 genomes]
rs57249373	0.92[AFR][1000 genomes]
rs57349778	0.91[AFR][1000 genomes]
rs58122107	0.93[AFR][1000 genomes]
rs58562675	0.95[AFR][1000 genomes]
rs58952814	0.97[AFR][1000 genomes]
rs59058205	0.88[AFR][1000 genomes]
rs59091063	0.94[AFR][1000 genomes]
rs60060355	0.94[AFR][1000 genomes]
rs60168929	0.91[AFR][1000 genomes]
rs60606292	0.88[AFR][1000 genomes]
rs60697170	0.94[AFR][1000 genomes]
rs61368952	0.94[AFR][1000 genomes]
rs6493049	0.93[AFR][1000 genomes]
rs6493050	0.94[AFR][1000 genomes]
rs7166143	0.85[AFR][1000 genomes]
rs7172064	0.88[AFR][1000 genomes]
rs7172955	0.99[AFR][1000 genomes]
rs7173155	0.94[AFR][1000 genomes]
rs7178822	0.99[AFR][1000 genomes]
rs7181938	0.94[AFR][1000 genomes]
rs73402796	0.89[AFR][1000 genomes]
rs73404708	0.97[AFR][1000 genomes]
rs73404711	0.97[AFR][1000 genomes]
rs73404725	0.94[AFR][1000 genomes]
rs73404729	0.92[AFR][1000 genomes]
rs73404744	0.94[AFR][1000 genomes]
rs73404746	0.94[AFR][1000 genomes]
rs73404754	0.90[AFR][1000 genomes]
rs73404758	0.94[AFR][1000 genomes]
rs73404768	0.94[AFR][1000 genomes]
rs73404774	0.94[AFR][1000 genomes]
rs73404775	0.94[AFR][1000 genomes]
rs73404793	0.94[AFR][1000 genomes]
rs73404797	0.92[AFR][1000 genomes]
rs73406503	0.92[AFR][1000 genomes]
rs73406505	0.92[AFR][1000 genomes]
rs73406509	0.92[AFR][1000 genomes]
rs73406526	0.88[AFR][1000 genomes]
rs73406531	0.88[AFR][1000 genomes]
rs73406544	0.85[AFR][1000 genomes]
rs73406553	0.80[AFR][1000 genomes]
rs73406557	0.85[AFR][1000 genomes]
rs768118	0.92[AFR][1000 genomes]
rs8023948	0.94[AFR][1000 genomes]
rs8027207	0.94[AFR][1000 genomes]
rs8031383	0.92[AFR][1000 genomes]
rs8031883	0.94[AFR][1000 genomes]
rs8033555	0.94[AFR][1000 genomes]
rs8034001	0.92[AFR][1000 genomes]
rs8035877	0.94[AFR][1000 genomes]
rs8036927	0.97[AFR][1000 genomes]
rs8037277	0.97[AFR][1000 genomes]
rs8040624	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42783600-42787800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:42783600-42787800	Weak transcription	Spleen	Spleen
3	chr15:42785000-42787800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:42785000-42789000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr15:42786800-42789200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:42787000-42787600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:42787000-42787600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:42787000-42787600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr15:42787000-42787600	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr15:42787000-42787600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr15:42787000-42787600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr15:42787000-42787600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr15:42787000-42787600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:42787000-42787600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr15:42787000-42787600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr15:42787000-42787600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:42787000-42787600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:42787000-42787600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:42787000-42787600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:42787000-42787600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:42787000-42787600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr15:42787000-42787600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr15:42787000-42787600	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr15:42787000-42787600	Flanking Active TSS	Dnd41	blood
25	chr15:42787000-42787600	Flanking Active TSS	Hela-S3	cervix
26	chr15:42787000-42787600	Flanking Active TSS	HepG2	liver
27	chr15:42787000-42787600	Flanking Active TSS	HMEC	breast
28	chr15:42787000-42787600	Flanking Active TSS	K562	blood
29	chr15:42787000-42787600	Flanking Active TSS	NHEK	skin
30	chr15:42787000-42787600	Flanking Active TSS	Osteobl	bone
31	chr15:42787000-42787800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr15:42787000-42787800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr15:42787000-42787800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:42787000-42787800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr15:42787000-42787800	Flanking Active TSS	HUVEC	blood vessel
36	chr15:42787000-42787800	Flanking Active TSS	NH-A	brain
37	chr15:42787000-42788400	Active TSS	A549	lung
38	chr15:42787000-42788600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:42787000-42788600	Active TSS	Brain Germinal Matrix	brain
40	chr15:42787000-42788600	Active TSS	Duodenum Mucosa	Duodenum
41	chr15:42787000-42788600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr15:42787000-42788600	Active TSS	Fetal Muscle Trunk	muscle
43	chr15:42787000-42788600	Active TSS	Left Ventricle	heart
44	chr15:42787000-42788800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:42787000-42788800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr15:42787000-42788800	Active TSS	Aorta	Aorta
47	chr15:42787000-42789000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:42787000-42789000	Active TSS	Colonic Mucosa	Colon
49	chr15:42787000-42789000	Active TSS	Right Ventricle	heart
50	chr15:42787200-42787600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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