Variant report

Variant	rs45463194
Chromosome Location	chr19:43100909-43100910
allele	G/T
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	HCFC1	chr19:43100723-43100975	K562	blood:	n/a	n/a
2	CTCF	chr19:43100650-43100989	Spleen_OC	spleen:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
3	CTCF	chr19:43100660-43100982	A549	lung:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
4	CTCF	chr19:43100613-43101112	HCT-116	colon:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
5	RAD21	chr19:43100650-43100999	A549	lung:	n/a	chr19:43100813-43100822 chr19:43100807-43100826
6	CTCF	chr19:43100760-43100910	GM12871	blood:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
7	CTCF	chr19:43100760-43100910	SAEC	small airway:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
8	CTCF	chr19:43100780-43100930	K562	blood:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
9	CTCF	chr19:43100566-43101077	MCF-7	breast:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
10	SMC3	chr19:43100348-43101130	SK-N-SH	brain:	n/a	chr19:43100811-43100825
11	RAD21	chr19:43100618-43101007	SK-N-SH_RA	brain:	n/a	chr19:43100813-43100822 chr19:43100807-43100826
12	ZNF143	chr19:43100643-43101017	GM12878	blood:	n/a	n/a
13	CTCF	chr19:43100559-43101128	HCT-116	colon:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
14	SMC3	chr19:43100646-43101029	GM12878	blood:	n/a	chr19:43100811-43100825
15	CTCF	chr19:43100682-43100966	Pancreas_OC	pancreas:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
16	CTCF	chr19:43100760-43100910	AG04450	lung:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
17	CTCF	chr19:43100780-43100930	GM12878	blood:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
18	CTCF	chr19:43100760-43100910	NHEK	skin:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
19	CTCF	chr19:43100760-43100910	HEEpiC	esophagus:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
20	CTCF	chr19:43100760-43100910	RPTEC	kidney:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
21	STAT1	chr19:43100723-43100983	GM12878	blood:	n/a	n/a
22	TBL1XR1	chr19:43100803-43101195	K562	blood:	n/a	n/a
23	CTCF	chr19:43100760-43100910	AG04449	skin:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
24	CTCF	chr19:43100703-43100951	LNCaP	prostate:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
25	CTCF	chr19:43100693-43100964	Kidney_OC	kidney:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
26	CTCF	chr19:43100482-43101120	MCF-7	breast:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
27	CTCF	chr19:43100623-43101013	Gliobla	brain:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
28	CTCF	chr19:43100760-43100910	AG09309	skin:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
29	CTCF	chr19:43100699-43100929	A549	lung:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
30	CTCF	chr19:43100780-43100930	AoAF	blood vessel:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
31	CTCF	chr19:43100760-43100910	NHDF-neo	bronchial:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
32	CTCF	chr19:43100780-43100930	HAc	cerebellar:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
33	CTCF	chr19:43100780-43100930	SK-N-SH_RA	brain:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
34	CTCF	chr19:43100780-43100930	HA-sp	spinal cord:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
35	CTCF	chr19:43100545-43100990	H1-hESC	embryonic stem cell:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
36	CTCF	chr19:43100642-43100994	Fibrobl	skin:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
37	CTCF	chr19:43099558-43101443	A549	lung:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100260-43100273 chr19:43100257-43100275 chr19:43100809-43100827 chr19:43100812-43100822
38	CTCF	chr19:43100780-43100930	AG09309	skin:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
39	CTCF	chr19:43100780-43100930	HMF	breast:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
40	RAD21	chr19:43100710-43100911	SK-N-SH_RA	brain:	n/a	chr19:43100813-43100822 chr19:43100807-43100826
41	RAD21	chr19:43100635-43101018	H1-hESC	embryonic stem cell:	n/a	chr19:43100813-43100822 chr19:43100807-43100826
42	CTCF	chr19:43100780-43100930	HCT-116	colon:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
43	MYC	chr19:43100783-43100983	NB4	blood:	n/a	n/a
44	RAD21	chr19:43100574-43101054	MCF-7	breast:	n/a	chr19:43100813-43100822 chr19:43100807-43100826
45	CTCF	chr19:43100654-43100978	SK-N-SH_RA	brain:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
46	CTCF	chr19:43100760-43100910	GM12866	blood:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
47	CTCF	chr19:43100760-43100910	HFF	foreskin:	n/a	chr19:43100804-43100825 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
48	CTCF	chr19:43100651-43100942	HepG2	liver:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
49	CTCF	chr19:43100486-43101071	A549	lung:	n/a	chr19:43100804-43100825 chr19:43100656-43100669 chr19:43100810-43100826 chr19:43100815-43100824 chr19:43100809-43100827 chr19:43100812-43100822
50	BACH1	chr19:43100672-43101041	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:43067242..43067993-chr19:43100482..43101078,2	MCF-7	breast:
2	chr19:43070787..43071783-chr19:43100383..43100953,3	MCF-7	breast:
3	chr19:42954441..42955205-chr19:43100309..43101289,2	MCF-7	breast:
4	chr19:43070688..43071772-chr19:43100056..43100921,4	MCF-7	breast:

Variant related genes	Relation type
CEACAM8	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10402559	1.00[EUR][1000 genomes]
rs10407596	1.00[EUR][1000 genomes]
rs10425757	1.00[EUR][1000 genomes]
rs11878991	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879456	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883425	1.00[EUR][1000 genomes]
rs1975178	1.00[EUR][1000 genomes]
rs28514529	1.00[EUR][1000 genomes]
rs35190409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36024215	1.00[EUR][1000 genomes]
rs41363350	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45439592	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45459094	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45482593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45542141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45551231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45583435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45617042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45618138	1.00[EUR][1000 genomes]
rs45620339	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562334	1.00[EUR][1000 genomes]
rs73562336	1.00[EUR][1000 genomes]
rs8105027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106654	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9676326	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv3360773	chr19:43065661-43137022	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1064734	chr19:43076046-43182478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1058936	chr19:43082848-43228161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3331281	chr19:43087545-43124628	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv963055	chr19:43096862-43101157	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43100400-43101000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr19:43100400-43101000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr19:43100400-43101200	Enhancers	Adipose Nuclei	Adipose
4	chr19:43100600-43101000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:43100600-43101000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:43100600-43101000	Enhancers	Right Ventricle	heart
7	chr19:43100600-43101000	Enhancers	Spleen	Spleen
8	chr19:43100600-43101200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr19:43100600-43101200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:43100600-43101200	Enhancers	Brain Cingulate Gyrus	brain
11	chr19:43100600-43101200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr19:43100600-43101200	Bivalent Enhancer	HepG2	liver
13	chr19:43100800-43101000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:43100800-43101000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:43100800-43101000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:43100800-43101200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr19:43100800-43101200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:43100800-43101200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr19:43100800-43101200	Enhancers	Esophagus	oesophagus
20	chr19:43100800-43101200	Enhancers	Pancreas	Pancrea
21	chr19:43100800-43101200	Enhancers	K562	blood
22	chr19:43100800-43105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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