Variant report

Variant	rs62107907
Chromosome Location	chr19:41102692-41102693
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	POLR2A	chr19:41102585-41103550	K562	blood:	n/a	n/a
2	GATA3	chr19:41102545-41105109	A549	lung:	n/a	n/a
3	FOSL2	chr19:41102432-41103856	A549	lung:	n/a	chr19:41102949-41102958 chr19:41102987-41102996
4	E2F6	chr19:41102557-41103412	A549	lung:	n/a	chr19:41102989-41102998 chr19:41102990-41103002 chr19:41102951-41102960 chr19:41102975-41102985
5	POLR2A	chr19:41102555-41103598	PFSK-1	brain:	n/a	n/a
6	MAX	chr19:41102602-41103236	HepG2	liver:	n/a	chr19:41102890-41102897
7	CTCF	chr19:41102201-41106331	A549	lung:	n/a	chr19:41104670-41104688 chr19:41104671-41104687 chr19:41102391-41102404 chr19:41104665-41104686
8	TCF12	chr19:41102578-41103013	A549	lung:	n/a	n/a
9	E2F6	chr19:41102607-41103352	K562	blood:	n/a	chr19:41102989-41102998 chr19:41102990-41103002 chr19:41102951-41102960 chr19:41102975-41102985
10	MAX	chr19:41102662-41103235	K562	blood:	n/a	chr19:41102890-41102897
11	MAX	chr19:41102508-41103511	HCT-116	colon:	n/a	chr19:41102890-41102897
12	MAX	chr19:41102634-41103407	MCF-7	breast:	n/a	chr19:41102890-41102897
13	MAX	chr19:41102513-41103404	ECC-1	luminal epithelium:	n/a	chr19:41102890-41102897
14	PBX3	chr19:41102542-41103274	A549	lung:	n/a	chr19:41102950-41102959
15	NFYA	chr19:41102632-41103106	K562	blood:	n/a	chr19:41102948-41102962 chr19:41102947-41102962 chr19:41102986-41103000 chr19:41102951-41102963 chr19:41102947-41102962
16	ZBTB7A	chr19:41102629-41103055	ECC-1	luminal epithelium:	n/a	n/a
17	ZNF263	chr19:41102435-41102892	HEK293-T-REx	kidney:	n/a	n/a
18	SIX5	chr19:41102535-41105874	A549	lung:	n/a	n/a
19	SP1	chr19:41102545-41103246	A549	lung:	n/a	chr19:41102940-41102961 chr19:41102978-41102999 chr19:41102775-41102789 chr19:41102775-41102784
20	E2F6	chr19:41102367-41104923	A549	lung:	n/a	chr19:41102989-41102998 chr19:41102990-41103002 chr19:41104309-41104323 chr19:41102951-41102960 chr19:41102975-41102985 chr19:41104665-41104682
21	E2F6	chr19:41102596-41103392	H1-hESC	embryonic stem cell:	n/a	chr19:41102989-41102998 chr19:41102990-41103002 chr19:41102951-41102960 chr19:41102975-41102985
22	TBL1XR1	chr19:41102692-41102928	K562	blood:	n/a	n/a
23	TCF12	chr19:41102162-41105376	A549	lung:	n/a	chr19:41102507-41102515
24	ZBTB7A	chr19:41102361-41103930	K562	blood:	n/a	chr19:41103720-41103734
25	MAX	chr19:41102550-41103446	K562	blood:	n/a	chr19:41102890-41102897
26	ZBTB7A	chr19:41102511-41103022	K562	blood:	n/a	n/a
27	MAX	chr19:41102500-41104951	A549	lung:	n/a	chr19:41104249-41104258 chr19:41102890-41102897
28	MAX	chr19:41102419-41105314	A549	lung:	n/a	chr19:41104249-41104258 chr19:41102890-41102897
29	REST	chr19:41102528-41103020	A549	lung:	n/a	chr19:41102933-41102946 chr19:41102930-41102943
30	ZBTB7A	chr19:41102551-41103145	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr19:41102613-41103264	H1-hESC	embryonic stem cell:	n/a	chr19:41102890-41102897
32	JUND	chr19:41102562-41103321	A549	lung:	n/a	chr19:41102949-41102958 chr19:41102987-41102996
33	MAX	chr19:41102666-41103413	ECC-1	luminal epithelium:	n/a	chr19:41102890-41102897
34	CREB1	chr19:41102661-41103374	A549	lung:	n/a	n/a
35	SIN3AK20	chr19:41102419-41102891	A549	lung:	n/a	n/a
36	E2F4	chr19:41102650-41103191	K562	blood:	n/a	chr19:41102989-41102998 chr19:41102990-41103002 chr19:41102992-41103003 chr19:41102951-41102960 chr19:41102975-41102985
37	MAX	chr19:41102528-41103413	H1-hESC	embryonic stem cell:	n/a	chr19:41102890-41102897
38	NFYB	chr19:41102609-41103136	K562	blood:	n/a	chr19:41102949-41102964 chr19:41102948-41102962 chr19:41102947-41102962 chr19:41102986-41103000 chr19:41102987-41103002 chr19:41102951-41102963 chr19:41102947-41102962
39	REST	chr19:41102483-41102995	A549	lung:	n/a	chr19:41102933-41102946 chr19:41102930-41102943
40	E2F6	chr19:41102483-41104926	H1-hESC	embryonic stem cell:	n/a	chr19:41102989-41102998 chr19:41102990-41103002 chr19:41104309-41104323 chr19:41102951-41102960 chr19:41102975-41102985 chr19:41104665-41104682
41	SP1	chr19:41102197-41104984	A549	lung:	n/a	chr19:41104729-41104739 chr19:41104728-41104740 chr19:41104230-41104240 chr19:41103564-41103576 chr19:41103565-41103575 chr19:41103561-41103575 chr19:41104229-41104241 chr19:41102940-41102961 chr19:41104729-41104738 chr19:41103568-41103582 chr19:41103565-41103574 chr19:41104728-41104740 chr19:41102978-41102999 chr19:41102775-41102789 chr19:41104725-41104739 chr19:41104229-41104241 chr19:41104730-41104739 chr19:41102775-41102784 chr19:41103564-41103576 chr19:41102393-41102407 chr19:41104230-41104240

No.	Distal block	Cell Line	Cell type
1	chr19:41074575..41077063-chr19:41102661..41104617,3	MCF-7	breast:
2	chr19:40967363..40973578-chr19:41101518..41109514,8	K562	blood:
3	chr19:40948223..40951399-chr19:41100513..41104736,3	MCF-7	breast:
4	chr19:41074953..41077910-chr19:41101103..41104097,3	MCF-7	breast:
5	chr19:41081761..41084466-chr19:41100896..41105533,6	MCF-7	breast:
6	chr19:41093850..41097927-chr19:41099715..41103880,5	K562	blood:
7	chr19:41094390..41097237-chr19:41101497..41103880,2	K562	blood:
8	chr19:41075233..41077864-chr19:41102311..41105229,3	K562	blood:
9	chr19:41031800..41040224-chr19:41101608..41111828,17	K562	blood:
10	chr19:41081136..41084687-chr19:41102465..41104575,4	K562	blood:
11	chr19:41101978..41104325-chr19:41119218..41120800,2	MCF-7	breast:
12	chr12:54674360..54676219-chr19:41102639..41105279,2	K562	blood:
13	chr19:41036449..41038732-chr19:41102668..41104519,2	K562	blood:
14	chr19:41082667..41084687-chr19:41102465..41104415,2	K562	blood:
15	chr19:41075285..41077468-chr19:41102388..41105229,2	K562	blood:

Variant related genes	Relation type
LTBP4	TF binding region
ENSG00000160410	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000160460	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11083560	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2246761	0.91[ASN][1000 genomes]
rs2303728	0.90[ASN][1000 genomes]
rs3786527	0.92[ASN][1000 genomes]
rs4802079	0.91[ASN][1000 genomes]
rs55740667	0.91[ASN][1000 genomes]
rs55815263	0.99[ASN][1000 genomes]
rs62107911	0.88[ASN][1000 genomes]
rs62107913	0.92[ASN][1000 genomes]
rs73047963	0.98[ASN][1000 genomes]
rs73047967	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911716	chr19:41023511-41109456	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv911725	chr19:41090190-41114065	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41094600-41102800	Weak transcription	Aorta	Aorta
2	chr19:41094600-41102800	Weak transcription	Left Ventricle	heart
3	chr19:41095200-41103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:41097400-41102800	Weak transcription	Ovary	ovary
5	chr19:41097400-41102800	Weak transcription	Spleen	Spleen
6	chr19:41101000-41102800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:41101000-41102800	Weak transcription	Gastric	stomach
8	chr19:41101000-41102800	Weak transcription	Pancreas	Pancrea
9	chr19:41101000-41102800	Weak transcription	HMEC	breast
10	chr19:41101200-41102800	Weak transcription	NH-A	brain
11	chr19:41101200-41103200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:41101200-41104200	Weak transcription	Dnd41	blood
13	chr19:41102200-41102800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr19:41102200-41103000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:41102200-41106400	Bivalent Enhancer	Placenta	Placenta
16	chr19:41102400-41102800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr19:41102400-41102800	Flanking Active TSS	A549	lung
18	chr19:41102400-41103200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr19:41102400-41103200	Bivalent Enhancer	Colon Smooth Muscle	Colon
20	chr19:41102400-41103200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr19:41102400-41104800	Bivalent Enhancer	Fetal Brain Male	brain
22	chr19:41102400-41108600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr19:41102400-41109200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:41102600-41102800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr19:41102600-41102800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:41102600-41102800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr19:41102600-41102800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:41102600-41102800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr19:41102600-41102800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr19:41102600-41102800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
31	chr19:41102600-41102800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr19:41102600-41102800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
33	chr19:41102600-41102800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:41102600-41102800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:41102600-41102800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:41102600-41102800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:41102600-41102800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:41102600-41102800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:41102600-41102800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr19:41102600-41102800	Bivalent Enhancer	Brain Angular Gyrus	brain
41	chr19:41102600-41102800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr19:41102600-41102800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr19:41102600-41102800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr19:41102600-41102800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr19:41102600-41102800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
46	chr19:41102600-41102800	Flanking Active TSS	Right Atrium	heart
47	chr19:41102600-41102800	Flanking Active TSS	Right Ventricle	heart
48	chr19:41102600-41102800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr19:41102600-41102800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr19:41102600-41102800	Flanking Bivalent TSS/Enh	HepG2	liver

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