Variant report

Variant	rs296761
Chromosome Location	chr12:50360597-50360598
allele	C/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	MAX	chr12:50360182-50361775	MCF-7	breast:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
2	POLR2A	chr12:50360313-50361809	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr12:50360574-50360669	GM13977	blood:	n/a	n/a
4	CTCF	chr12:50360584-50360652	GM13976	blood:	n/a	n/a
5	CTCF	chr12:50360561-50360697	GM10266	blood:	n/a	n/a
6	MAX	chr12:50360361-50361572	NB4	blood:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
7	ZBTB7A	chr12:50360543-50361116	K562	blood:	n/a	n/a
8	CTCF	chr12:50360348-50362075	SK-N-SH	brain:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
9	CTCF	chr12:50360565-50361586	GM12892	blood:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
10	MAX	chr12:50360284-50361645	K562	blood:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
11	HCFC1	chr12:50359807-50361524	Hela-S3	cervix:	n/a	n/a
12	MYC	chr12:50360405-50361595	K562	blood:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
13	RAD21	chr12:50360534-50361709	HCT-116	colon:	n/a	chr12:50361388-50361407 chr12:50361632-50361646 chr12:50360927-50360941 chr12:50360919-50360932 chr12:50360926-50360945
14	CTCF	chr12:50360596-50360718	GM19239	blood:	n/a	n/a
15	CTCF	chr12:50360548-50360695	GM19238	blood:	n/a	n/a
16	CTCF	chr12:50360302-50361839	HCT-116	colon:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
17	MAZ	chr12:50360379-50361691	IMR90	lung:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
18	ZBTB7A	chr12:50360082-50361651	ECC-1	luminal epithelium:	n/a	chr12:50361395-50361404
19	CTCF	chr12:50360578-50360712	GM12878	blood:	n/a	n/a
20	MAX	chr12:50360502-50361975	A549	lung:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
21	CTCF	chr12:50360565-50361747	K562	blood:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
22	CTCF	chr12:50359960-50362039	A549	lung:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
23	MAX	chr12:50360256-50361809	ECC-1	luminal epithelium:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
24	SMARCB1	chr12:50360550-50361856	Hela-S3	cervix:	n/a	n/a
25	MYC	chr12:50360337-50361743	NB4	blood:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
26	SMC3	chr12:50360284-50362514	SK-N-SH	brain:	n/a	chr12:50360927-50360941 chr12:50361180-50361188 chr12:50361389-50361403
27	CTCF	chr12:50360558-50361600	GM12891	blood:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
28	RAD21	chr12:50360511-50361756	HCT-116	colon:	n/a	chr12:50361388-50361407 chr12:50361632-50361646 chr12:50360927-50360941 chr12:50360919-50360932 chr12:50360926-50360945
29	ZBTB7A	chr12:50360469-50361593	ECC-1	luminal epithelium:	n/a	chr12:50361395-50361404
30	CTCF	chr12:50360500-50360650	AoAF	blood vessel:	n/a	n/a
31	BHLHE40	chr12:50360337-50361780	K562	blood:	n/a	n/a
32	USF1	chr12:50360575-50361000	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:50360520-50360670	A549	lung:	n/a	n/a
34	CTCF	chr12:50360591-50360707	GM19240	blood:	n/a	n/a
35	NFIC	chr12:50360588-50361767	ECC-1	luminal epithelium:	n/a	n/a
36	CTCF	chr12:50360540-50360690	Caco-2	colon:	n/a	n/a
37	CTCF	chr12:50360500-50360650	NHDF-neo	bronchial:	n/a	n/a
38	ELF1	chr12:50360553-50361695	GM12878	blood:	n/a	n/a
39	MYC	chr12:50360482-50361670	K562	blood:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
40	RAD21	chr12:50359861-50362422	SK-N-SH	brain:	n/a	chr12:50361388-50361407 chr12:50361632-50361646 chr12:50360927-50360941 chr12:50360919-50360932 chr12:50360926-50360945
41	NFIC	chr12:50360539-50361674	ECC-1	luminal epithelium:	n/a	n/a
42	MAZ	chr12:50360562-50361169	Hela-S3	cervix:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
43	CTCF	chr12:50360460-50361788	MCF-7	breast:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
44	CTCF	chr12:50360460-50360610	AG04449	skin:	n/a	n/a
45	NR2F2	chr12:50360592-50361709	K562	blood:	n/a	n/a
46	RAD21	chr12:50360591-50361631	A549	lung:	n/a	chr12:50361388-50361407 chr12:50360927-50360941 chr12:50360919-50360932 chr12:50360926-50360945
47	MAX	chr12:50360339-50361631	H1-hESC	embryonic stem cell:	n/a	chr12:50360799-50360809 chr12:50360797-50360810 chr12:50360799-50360809 chr12:50360798-50360809 chr12:50360799-50360808 chr12:50360799-50360808 chr12:50360794-50360813 chr12:50360798-50360809 chr12:50360797-50360810 chr12:50360798-50360809 chr12:50360799-50360808
48	RAD21	chr12:50360546-50361742	ECC-1	luminal epithelium:	n/a	chr12:50361388-50361407 chr12:50361632-50361646 chr12:50360927-50360941 chr12:50360919-50360932 chr12:50360926-50360945
49	MAX	chr12:50360390-50360688	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50358701..50362803-chr12:50449341..50451682,4	MCF-7	breast:
2	chr12:50360101..50361853-chr12:50463828..50465034,15	K562	blood:
3	chr12:50360531..50361497-chr12:50464033..50464946,8	MCF-7	breast:
4	chr12:50360045..50361666-chr12:50451717..50454140,2	MCF-7	breast:
5	chr12:50359856..50363195-chr12:50464299..50467277,4	MCF-7	breast:
6	chr12:50352910..50356046-chr12:50357826..50360762,4	K562	blood:
7	chr12:50358725..50360961-chr12:50462832..50465036,2	K562	blood:
8	chr12:50358386..50360982-chr12:50417949..50420523,2	MCF-7	breast:
9	chr12:50359827..50361683-chr12:50418817..50420770,2	MCF-7	breast:
10	chr12:50360423..50362281-chr12:50463512..50464987,20	MCF-7	breast:
11	chr12:50360085..50362096-chr12:50467242..50469135,2	K562	blood:

Variant related genes	Relation type
AQP6	TF binding region
ENSG00000257588	TF binding region
ENSG00000110881	Chromatin interaction
ENSG00000161798	Chromatin interaction
ENSG00000161800	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11169179	1.00[EUR][1000 genomes]
rs11169181	1.00[EUR][1000 genomes]
rs12316969	1.00[EUR][1000 genomes]
rs12318294	1.00[EUR][1000 genomes]
rs2697111	1.00[EUR][1000 genomes]
rs296738	1.00[EUR][1000 genomes]
rs296748	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs296749	1.00[EUR][1000 genomes]
rs296753	1.00[EUR][1000 genomes]
rs296755	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs296757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs296758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs296764	1.00[EUR][1000 genomes]
rs296765	1.00[EUR][1000 genomes]
rs372753	1.00[EUR][1000 genomes]
rs425726	1.00[EUR][1000 genomes]
rs455037	1.00[EUR][1000 genomes]
rs60009415	1.00[EUR][1000 genomes]
rs672697	1.00[EUR][1000 genomes]
rs73310966	1.00[EUR][1000 genomes]
rs74087196	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv1828759	chr12:50349765-50366300	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 target site	28 gene(s)	inside rSNPs	diseases
12	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv523899	chr12:50354437-50366300	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50355400-50361200	Weak transcription	Lung	lung
2	chr12:50356000-50361000	Weak transcription	Ovary	ovary
3	chr12:50356800-50361000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:50357000-50360600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:50357000-50360600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:50357000-50360800	Weak transcription	Fetal Brain Female	brain
7	chr12:50357200-50360800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:50357400-50360600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:50357400-50360600	Weak transcription	Fetal Brain Male	brain
10	chr12:50357400-50360600	Weak transcription	Spleen	Spleen
11	chr12:50357400-50360800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:50357400-50361000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:50357400-50361000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:50357400-50361000	Weak transcription	Right Ventricle	heart
15	chr12:50357400-50361000	Weak transcription	HMEC	breast
16	chr12:50357400-50361000	Weak transcription	HSMMtube	muscle
17	chr12:50357400-50361000	Weak transcription	HUVEC	blood vessel
18	chr12:50357600-50361000	Weak transcription	Left Ventricle	heart
19	chr12:50357800-50360600	Weak transcription	Esophagus	oesophagus
20	chr12:50357800-50360600	Weak transcription	A549	lung
21	chr12:50357800-50360800	Weak transcription	Liver	Liver
22	chr12:50357800-50361000	Weak transcription	Right Atrium	heart
23	chr12:50357800-50366400	Weak transcription	Gastric	stomach
24	chr12:50358000-50361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:50358200-50361000	Weak transcription	Pancreas	Pancrea
26	chr12:50359600-50360800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:50359600-50361000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:50359800-50361000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr12:50359800-50361000	Weak transcription	Brain Angular Gyrus	brain
30	chr12:50360000-50361000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:50360200-50360600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr12:50360200-50360800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:50360400-50360600	Enhancers	K562	blood
34	chr12:50360400-50360800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:50360400-50360800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:50360400-50360800	Enhancers	Brain Germinal Matrix	brain
37	chr12:50360400-50360800	Bivalent Enhancer	HepG2	liver
38	chr12:50360400-50361000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:50360400-50361000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:50360400-50361000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:50360400-50361000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:50360400-50361000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr12:50360400-50361400	Flanking Active TSS	Hela-S3	cervix
44	chr12:50360400-50361600	Enhancers	Fetal Lung	lung

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