Variant report

Variant	rs17037459
Chromosome Location	chr12:106099878-106099879
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	chr12:106099368-106099899	MCF-7	breast:	n/a	n/a
2	CTCF	chr12:106099770-106099896	Fibrobl	skin:	n/a	n/a
3	TCF12	chr12:106099512-106101093	SK-N-SH	brain:	n/a	n/a
4	SMC3	chr12:106099216-106100498	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr12:106099836-106099889	GM13976	blood:	n/a	n/a
6	CTCF	chr12:106099740-106099890	GM12866	blood:	n/a	n/a
7	CTCF	chr12:106099498-106099978	GM12878	blood:	n/a	n/a
8	CTCF	chr12:106099369-106099917	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:106099842-106099959	GM10248	blood:	n/a	n/a
10	KAP1	chr12:106099643-106100747	HEK293	kidney:	n/a	n/a
11	CTCF	chr12:106099572-106099889	GM19240	blood:	n/a	n/a
12	ZNF263	chr12:106099441-106100999	HEK293-T-REx	kidney:	n/a	chr12:106099693-106099714 chr12:106099692-106099701 chr12:106100441-106100450
13	CTCF	chr12:106099150-106099968	A549	lung:	n/a	n/a
14	RAD21	chr12:106099453-106100251	Hela-S3	cervix:	n/a	chr12:106099640-106099659
15	RAD21	chr12:106099423-106099907	A549	lung:	n/a	chr12:106099640-106099659
16	RAD21	chr12:106099345-106099926	HCT-116	colon:	n/a	chr12:106099640-106099659
17	CTCF	chr12:106099538-106099946	GM13977	blood:	n/a	n/a
18	RAD21	chr12:106099348-106100103	A549	lung:	n/a	chr12:106099640-106099659
19	RAD21	chr12:106099440-106099880	HepG2	liver:	n/a	chr12:106099640-106099659
20	RAD21	chr12:106099263-106100421	SK-N-SH	brain:	n/a	chr12:106099640-106099659
21	RAD21	chr12:106099466-106099897	ECC-1	luminal epithelium:	n/a	chr12:106099640-106099659
22	TCF7L2	chr12:106099674-106100944	Hela-S3	cervix:	n/a	chr12:106100284-106100298 chr12:106100283-106100299 chr12:106100283-106100299 chr12:106100287-106100296 chr12:106100285-106100295
23	RAD21	chr12:106099370-106099926	H1-hESC	embryonic stem cell:	n/a	chr12:106099640-106099659
24	CTCF	chr12:106099361-106099964	HCT-116	colon:	n/a	n/a
25	CTCF	chr12:106099380-106099898	A549	lung:	n/a	n/a
26	CTCF	chr12:106099509-106099910	LNCaP	prostate:	n/a	n/a
27	CTCF	chr12:106099786-106099880	GM12892	blood:	n/a	n/a
28	RAD21	chr12:106099386-106100396	IMR90	lung:	n/a	chr12:106099640-106099659
29	RAD21	chr12:106099312-106100045	HCT-116	colon:	n/a	chr12:106099640-106099659
30	CTCF	chr12:106099524-106099935	Gliobla	brain:	n/a	n/a
31	TCF7L2	chr12:106099759-106100641	HEK293	kidney:	n/a	chr12:106100284-106100298 chr12:106100283-106100299 chr12:106100283-106100299 chr12:106100287-106100296 chr12:106100285-106100295
32	SMC3	chr12:106099374-106099923	GM12878	blood:	n/a	n/a
33	RAD21	chr12:106099371-106100296	ECC-1	luminal epithelium:	n/a	chr12:106099640-106099659
34	CTCF	chr12:106099033-106100495	SK-N-SH	brain:	n/a	n/a
35	KAP1	chr12:106099726-106100865	U2OS	brain:	n/a	n/a
36	SMC3	chr12:106099466-106100276	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106099358..106100248-chr12:106529662..106530556,3	K562	blood:
2	chr12:105814204..105815049-chr12:106099199..106100140,3	MCF-7	breast:
3	chr12:106099637..106100474-chr12:106529654..106530671,3	MCF-7	breast:

Variant related genes	Relation type
CASC18	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11112783	1.00[EUR][1000 genomes]
rs11834687	1.00[EUR][1000 genomes]
rs12302856	1.00[EUR][1000 genomes]
rs12317775	1.00[EUR][1000 genomes]
rs1421437	1.00[EUR][1000 genomes]
rs17037622	1.00[EUR][1000 genomes]
rs17037733	1.00[EUR][1000 genomes]
rs17037736	1.00[EUR][1000 genomes]
rs17037741	1.00[EUR][1000 genomes]
rs17037742	1.00[EUR][1000 genomes]
rs17037756	1.00[EUR][1000 genomes]
rs17037760	1.00[EUR][1000 genomes]
rs17037763	1.00[EUR][1000 genomes]
rs35997774	1.00[EUR][1000 genomes]
rs56123105	1.00[EUR][1000 genomes]
rs57275238	1.00[EUR][1000 genomes]
rs57321476	1.00[EUR][1000 genomes]
rs57454138	1.00[EUR][1000 genomes]
rs57687607	1.00[EUR][1000 genomes]
rs58650564	1.00[EUR][1000 genomes]
rs60604017	1.00[EUR][1000 genomes]
rs718790	1.00[EUR][1000 genomes]
rs7298586	1.00[EUR][1000 genomes]
rs7307022	1.00[EUR][1000 genomes]
rs7315499	1.00[EUR][1000 genomes]
rs73383202	1.00[EUR][1000 genomes]
rs7963779	1.00[EUR][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	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899504	chr12:106095906-106135942	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106097400-106101000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:106098000-106100600	Enhancers	Fetal Muscle Trunk	muscle
3	chr12:106098000-106101200	Enhancers	Fetal Heart	heart
4	chr12:106098000-106101400	Enhancers	Fetal Muscle Leg	muscle
5	chr12:106098400-106100200	Enhancers	Fetal Lung	lung
6	chr12:106098400-106101400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:106098600-106100000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:106098600-106100200	Enhancers	Lung	lung
9	chr12:106098600-106101600	Enhancers	HSMMtube	muscle
10	chr12:106098800-106101400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:106098800-106101400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:106099000-106100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:106099000-106100200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:106099000-106100200	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:106099000-106101000	Enhancers	Psoas Muscle	Psoas
16	chr12:106099000-106101200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:106099200-106100000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:106099200-106100600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:106099200-106100600	Enhancers	HUVEC	blood vessel
20	chr12:106099200-106101400	Enhancers	HSMM	muscle
21	chr12:106099400-106100400	Enhancers	Brain Hippocampus Middle	brain
22	chr12:106099400-106100800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:106099400-106101000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:106099400-106101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:106099400-106101400	Enhancers	NH-A	brain
26	chr12:106099600-106100000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:106099600-106100000	Enhancers	Fetal Stomach	stomach
28	chr12:106099600-106100000	Enhancers	Stomach Mucosa	stomach
29	chr12:106099600-106100200	Enhancers	Adipose Nuclei	Adipose
30	chr12:106099600-106100200	Enhancers	Brain Angular Gyrus	brain
31	chr12:106099600-106100200	Enhancers	Brain Anterior Caudate	brain
32	chr12:106099600-106100200	Enhancers	Brain Substantia Nigra	brain
33	chr12:106099600-106100200	Enhancers	Fetal Brain Male	brain
34	chr12:106099600-106100200	Enhancers	Ovary	ovary
35	chr12:106099600-106100200	Enhancers	Right Atrium	heart
36	chr12:106099600-106100800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:106099600-106100800	Enhancers	Aorta	Aorta
38	chr12:106099600-106101000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:106099600-106101000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:106099600-106101000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:106099600-106101000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:106099600-106101000	Enhancers	Hela-S3	cervix
43	chr12:106099600-106101400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr12:106099600-106101400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:106099600-106101600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:106099600-106101600	Enhancers	Fetal Kidney	kidney
47	chr12:106099800-106100000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:106099800-106100000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:106099800-106100200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr12:106099800-106100200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links