Variant report

Variant	rs73323424
Chromosome Location	chr12:65091715-65091716
allele	A/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	RAD21	chr12:65091679-65092286	ECC-1	luminal epithelium:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
2	CTCF	chr12:65091675-65092152	HCT-116	colon:	n/a	chr12:65091984-65092002 chr12:65091990-65091999 chr12:65091986-65091999 chr12:65091979-65092000 chr12:65092020-65092033
3	RAD21	chr12:65091617-65092208	A549	lung:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
4	RAD21	chr12:65091705-65092193	IMR90	lung:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
5	RAD21	chr12:65091665-65092175	HepG2	liver:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
6	MXI1	chr12:65091330-65092418	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr12:65091700-65092229	H1-hESC	embryonic stem cell:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
8	NFIC	chr12:65091647-65092231	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr12:65091612-65092291	HCT-116	colon:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
10	POLR2A	chr12:65091682-65092143	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:65091548-65091772	HUVEC	blood vessel:	n/a	n/a
12	SMC3	chr12:65091478-65092379	SK-N-SH	brain:	n/a	chr12:65092022-65092036 chr12:65091986-65092000 chr12:65091986-65091996
13	POLR2A	chr12:65091713-65092101	K562	blood:	n/a	n/a
14	ATF2	chr12:65091707-65092191	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:65091696-65092091	GM12892	blood:	n/a	n/a
16	SMC3	chr12:65091713-65092201	GM12878	blood:	n/a	chr12:65092022-65092036 chr12:65091986-65092000 chr12:65091986-65091996
17	RAD21	chr12:65091653-65092185	GM12878	blood:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
18	TCF12	chr12:65091611-65092338	A549	lung:	n/a	n/a
19	MTA3	chr12:65091665-65092203	GM12878	blood:	n/a	n/a
20	CTCF	chr12:65091629-65092269	MCF-7	breast:	n/a	chr12:65091984-65092002 chr12:65091990-65091999 chr12:65091986-65091999 chr12:65091979-65092000 chr12:65092020-65092033
21	POLR2A	chr12:65091535-65092427	K562	blood:	n/a	n/a
22	CTCF	chr12:65091604-65092266	HCT-116	colon:	n/a	chr12:65091984-65092002 chr12:65091990-65091999 chr12:65091986-65091999 chr12:65091979-65092000 chr12:65092020-65092033
23	RAD21	chr12:65091268-65092418	SK-N-SH	brain:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
24	CTCF	chr12:65091653-65092376	A549	lung:	n/a	chr12:65091984-65092002 chr12:65091990-65091999 chr12:65091986-65091999 chr12:65091979-65092000 chr12:65092020-65092033
25	RAD21	chr12:65091692-65092292	A549	lung:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
26	CTCF	chr12:65091394-65092336	SK-N-SH	brain:	n/a	chr12:65091984-65092002 chr12:65091990-65091999 chr12:65091986-65091999 chr12:65091979-65092000 chr12:65092020-65092033
27	CTCF	chr12:65091672-65092188	A549	lung:	n/a	chr12:65091984-65092002 chr12:65091990-65091999 chr12:65091986-65091999 chr12:65091979-65092000 chr12:65092020-65092033
28	NFATC1	chr12:65091679-65092200	GM12878	blood:	n/a	n/a
29	RAD21	chr12:65091697-65092229	H1-hESC	embryonic stem cell:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
30	EBF1	chr12:65091702-65092170	GM12878	blood:	n/a	chr12:65091989-65092000
31	RAD21	chr12:65091648-65092276	HCT-116	colon:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
32	RAD21	chr12:65091580-65092264	ECC-1	luminal epithelium:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
33	RAD21	chr12:65091699-65092153	SK-N-SH_RA	brain:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032
34	MAX	chr12:65091661-65092221	MCF-7	breast:	n/a	chr12:65092001-65092010
35	RAD21	chr12:65091615-65092277	MCF-7	breast:	n/a	chr12:65091982-65092001 chr12:65091985-65091998 chr12:65091984-65091996 chr12:65091986-65091996 chr12:65092019-65092032

No.	Distal block	Cell Line	Cell type
1	chr12:64918979..64919553-chr12:65091604..65092185,2	MCF-7	breast:
2	chr12:65001714..65006897-chr12:65088342..65093997,11	MCF-7	breast:
3	chr12:64943121..64943994-chr12:65091524..65092506,7	MCF-7	breast:
4	chr12:64943389..64944029-chr12:65091585..65092723,4	MCF-7	breast:
5	chr12:65002182..65006670-chr12:65087134..65093452,10	MCF-7	breast:
6	chr12:65002305..65005095-chr12:65090588..65092916,2	K562	blood:

Variant related genes	Relation type
ENSG00000268028	TF binding region
ENSG00000256670	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12824259	0.85[AFR][1000 genomes]
rs61932664	0.87[AFR][1000 genomes]
rs7299226	1.00[EUR][1000 genomes]
rs8648	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65070000-65092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:65075000-65108400	Weak transcription	NH-A	brain
3	chr12:65077000-65091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:65077200-65091800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:65077400-65091800	Weak transcription	Brain Anterior Caudate	brain
7	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:65077600-65091800	Weak transcription	Brain Substantia Nigra	brain
9	chr12:65078600-65092200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:65078800-65092400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:65079000-65092000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:65079200-65092200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
14	chr12:65081800-65100400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:65082400-65094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:65085600-65106200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:65086000-65100000	Weak transcription	Psoas Muscle	Psoas
18	chr12:65086000-65100200	Weak transcription	Right Atrium	heart
19	chr12:65086200-65094800	Weak transcription	NHDF-Ad	bronchial
20	chr12:65086400-65107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:65087200-65108200	Weak transcription	Osteobl	bone
22	chr12:65088000-65092000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:65088200-65092000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:65088200-65100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:65088200-65109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:65088800-65100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:65089000-65094600	Weak transcription	Small Intestine	intestine
28	chr12:65089000-65108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:65089000-65109400	Weak transcription	Ovary	ovary
30	chr12:65089200-65092200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:65089400-65100600	Weak transcription	NHEK	skin
32	chr12:65089400-65100800	Weak transcription	HMEC	breast
33	chr12:65089400-65114600	Weak transcription	Esophagus	oesophagus
34	chr12:65089600-65091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:65089600-65091800	Weak transcription	Pancreas	Pancrea
36	chr12:65089600-65092200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:65089600-65092400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:65089600-65093600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:65089600-65093800	Weak transcription	Primary B cells from cord blood	blood
40	chr12:65089600-65094200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:65089600-65096600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:65089600-65100000	Weak transcription	HSMMtube	muscle
43	chr12:65089600-65100200	Weak transcription	Left Ventricle	heart
44	chr12:65089600-65100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:65089600-65103000	Weak transcription	Lung	lung
46	chr12:65089600-65107000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:65089600-65108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:65089600-65109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:65089600-65109600	Weak transcription	Gastric	stomach
50	chr12:65089600-65109600	Weak transcription	NHLF	lung

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