Variant report

Variant	rs74089030
Chromosome Location	chr12:49737341-49737342
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	MAZ	chr12:49737251-49737406	GM12878	blood:	n/a	n/a
2	CTBP2	chr12:49735158-49737394	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr12:49736312-49737428	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr12:49736759-49737518	K562	blood:	n/a	chr12:49737195-49737202 chr12:49737194-49737203 chr12:49737192-49737207 chr12:49737185-49737201
5	NR2F2	chr12:49736039-49737343	K562	blood:	n/a	n/a
6	YY1	chr12:49737135-49737501	GM12878	blood:	n/a	n/a
7	EGR1	chr12:49737014-49737502	K562	blood:	n/a	chr12:49737409-49737422
8	MAX	chr12:49736162-49737386	A549	lung:	n/a	chr12:49737195-49737202 chr12:49737194-49737203 chr12:49737192-49737207 chr12:49737185-49737201
9	MAX	chr12:49737040-49737371	K562	blood:	n/a	chr12:49737195-49737202 chr12:49737194-49737203 chr12:49737192-49737207 chr12:49737185-49737201
10	BHLHE40	chr12:49736173-49737372	K562	blood:	n/a	n/a
11	YY1	chr12:49737161-49737498	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:49737096-49737504	H1-neurons	neurons:	n/a	n/a
13	CTCF	chr12:49737240-49737390	GM12872	blood:	n/a	n/a
14	SIN3AK20	chr12:49737087-49737543	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZBTB7A	chr12:49735808-49737533	ECC-1	luminal epithelium:	n/a	chr12:49736374-49736383 chr12:49736793-49736801
16	MAX	chr12:49736017-49737563	ECC-1	luminal epithelium:	n/a	chr12:49737195-49737202 chr12:49737194-49737203 chr12:49737192-49737207 chr12:49737185-49737201
17	CTCF	chr12:49735821-49737540	A549	lung:	n/a	chr12:49736209-49736222 chr12:49736484-49736497 chr12:49736140-49736153 chr12:49736379-49736388 chr12:49736742-49736755 chr12:49736885-49736898 chr12:49736374-49736390 chr12:49736368-49736389 chr12:49736373-49736391 chr12:49736375-49736388 chr12:49736376-49736386 chr12:49736375-49736388 chr12:49736484-49736497
18	ZNF384	chr12:49737311-49737621	K562	blood:	n/a	n/a
19	MAX	chr12:49735989-49737509	A549	lung:	n/a	chr12:49737195-49737202 chr12:49737194-49737203 chr12:49737192-49737207 chr12:49737185-49737201
20	KAP1	chr12:49736041-49737458	U2OS	brain:	n/a	n/a
21	SIN3AK20	chr12:49737146-49737493	K562	blood:	n/a	n/a
22	HDAC2	chr12:49736934-49737421	K562	blood:	n/a	n/a
23	USF2	chr12:49737273-49737347	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr12:49736973-49737350	K562	blood:	n/a	n/a
25	KAP1	chr12:49735830-49737382	HEK293	kidney:	n/a	n/a
26	CTCF	chr12:49737282-49737345	GM12891	blood:	n/a	n/a
27	ZNF384	chr12:49737293-49737756	GM12878	blood:	n/a	n/a
28	MAX	chr12:49737111-49737368	K562	blood:	n/a	chr12:49737195-49737202 chr12:49737194-49737203 chr12:49737192-49737207 chr12:49737185-49737201
29	CTCF	chr12:49737333-49737475	GM12892	blood:	n/a	n/a
30	SIN3AK20	chr12:49737083-49737368	A549	lung:	n/a	n/a
31	PBX3	chr12:49735911-49737424	SK-N-SH	brain:	n/a	n/a
32	BCL3	chr12:49736967-49737381	GM12878	blood:	n/a	n/a
33	TCF12	chr12:49735879-49737500	ECC-1	luminal epithelium:	n/a	chr12:49737328-49737335
34	SIN3A	chr12:49735631-49737614	H1-hESC	embryonic stem cell:	n/a	chr12:49737000-49737013 chr12:49737455-49737463 chr12:49735808-49735821

No.	Distal block	Cell Line	Cell type
1	chr12:49734512..49737434-chr12:49761201..49764804,3	K562	blood:
2	chr12:49656587..49660636-chr12:49733539..49743833,13	K562	blood:
3	chr12:49709675..49711213-chr12:49736436..49739309,2	MCF-7	breast:
4	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
5	chr12:49668999..49670991-chr12:49736933..49738497,2	K562	blood:
6	chr12:49689234..49691243-chr12:49737194..49739589,2	MCF-7	breast:
7	chr12:49655321..49661148-chr12:49729487..49743115,26	K562	blood:
8	chr12:49662709..49665978-chr12:49735321..49738677,4	K562	blood:
9	chr12:49735114..49738057-chr12:49759505..49762701,3	K562	blood:
10	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:
11	chr12:49661766..49665978-chr12:49735321..49738677,5	K562	blood:

Variant related genes	Relation type
DNAJC22	TF binding region
ENSG00000258101	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000123352	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830820	1.00[AMR][1000 genomes]
rs11836976	1.00[AMR][1000 genomes]
rs17853062	1.00[AMR][1000 genomes]
rs56005192	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56014465	1.00[AMR][1000 genomes]
rs56140046	1.00[AMR][1000 genomes]
rs56330550	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57546911	1.00[AMR][1000 genomes]
rs58557116	1.00[AMR][1000 genomes]
rs59493874	1.00[AMR][1000 genomes]
rs60712360	1.00[AMR][1000 genomes]
rs60865902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61110708	1.00[AMR][1000 genomes]
rs7296117	1.00[AMR][1000 genomes]
rs7299056	1.00[AMR][1000 genomes]
rs7309243	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089008	1.00[AMR][1000 genomes]
rs74089010	1.00[AMR][1000 genomes]
rs74089028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089031	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089060	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089561	1.00[AMR][1000 genomes]
rs74089565	1.00[AMR][1000 genomes]
rs74091029	1.00[AMR][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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49734200-49739400	Weak transcription	Hela-S3	cervix
2	chr12:49735600-49737400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49735800-49737400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
4	chr12:49735800-49737400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
5	chr12:49735800-49737400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:49735800-49737400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr12:49735800-49737800	Enhancers	Gastric	stomach
8	chr12:49736000-49737400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:49736000-49737400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:49736000-49737400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:49736000-49737400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr12:49736000-49737400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:49736000-49737400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
14	chr12:49736000-49737400	Enhancers	Lung	lung
15	chr12:49736000-49737400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr12:49736000-49737400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
17	chr12:49736000-49737600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
18	chr12:49736000-49737800	Enhancers	Pancreas	Pancrea
19	chr12:49736200-49737400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr12:49736200-49737400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
21	chr12:49736200-49737400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr12:49736200-49737800	Bivalent Enhancer	Fetal Thymus	thymus
23	chr12:49736400-49737400	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr12:49736400-49737400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr12:49736400-49737600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
26	chr12:49736400-49737600	Bivalent Enhancer	Placenta	Placenta
27	chr12:49736400-49738000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr12:49736600-49737400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:49736600-49737400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
30	chr12:49736600-49737400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
31	chr12:49736600-49737400	Enhancers	Aorta	Aorta
32	chr12:49736600-49737400	Bivalent Enhancer	Left Ventricle	heart
33	chr12:49736600-49737400	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr12:49736600-49738200	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr12:49736600-49738800	Enhancers	Liver	Liver
36	chr12:49736800-49737400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
37	chr12:49736800-49737400	Bivalent Enhancer	Fetal Heart	heart
38	chr12:49736800-49737400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
39	chr12:49736800-49737400	Bivalent Enhancer	NHDF-Ad	bronchial
40	chr12:49736800-49737600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr12:49736800-49737800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr12:49736800-49737800	Bivalent Enhancer	Esophagus	oesophagus
43	chr12:49736800-49737800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr12:49736800-49737800	Bivalent Enhancer	Small Intestine	intestine
45	chr12:49736800-49739000	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr12:49737000-49737400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
47	chr12:49737000-49737400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:49737000-49737400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:49737000-49737400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr12:49737000-49737400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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