Variant report

Variant	rs73406973
Chromosome Location	chr12:123376134-123376135
allele	C/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	FOSL2	chr12:123375997-123376618	A549	lung:	n/a	chr12:123376523-123376532
2	MAFK	chr12:123375948-123376857	Hela-S3	cervix:	n/a	chr12:123376434-123376445 chr12:123376433-123376444 chr12:123376433-123376444 chr12:123376525-123376539 chr12:123376434-123376445 chr12:123376526-123376537
3	POLR2A	chr12:123375755-123376162	H1-neurons	neurons:	n/a	n/a
4	SMARCC1	chr12:123375881-123377198	Hela-S3	cervix:	n/a	n/a
5	FOS	chr12:123376132-123377135	MCF10A-Er-Src	breast:	n/a	chr12:123376523-123376532 chr12:123376313-123376324
6	FOS	chr12:123376113-123376471	HUVEC	blood vessel:	n/a	chr12:123376313-123376324
7	MYC	chr12:123376115-123377113	MCF10A-Er-Src	breast:	n/a	chr12:123376471-123376480
8	STAT3	chr12:123376054-123377131	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA2	chr12:123376095-123376505	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
2	chr12:123358923..123360581-chr12:123375537..123377864,2	MCF-7	breast:
3	chr12:123374002..123376738-chr12:123462505..123465359,2	MCF-7	breast:
4	chr12:123362099..123364653-chr12:123375458..123377701,2	K562	blood:

Variant related genes	Relation type
VPS37B	TF binding region
ENSG00000130787	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs57023093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406914	1.00[AMR][1000 genomes]
rs73406940	1.00[AMR][1000 genomes]
rs73406948	1.00[AMR][1000 genomes]
rs73406954	1.00[AMR][1000 genomes]
rs73406957	1.00[AMR][1000 genomes]
rs73406959	1.00[AMR][1000 genomes]
rs73406977	1.00[AMR][1000 genomes]
rs73415564	1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	1.00[AMR][1000 genomes]
rs73421661	1.00[AMR][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123366200-123379800	Weak transcription	Ovary	ovary
2	chr12:123370400-123379400	Enhancers	Small Intestine	intestine
3	chr12:123370600-123377400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:123370600-123377600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:123370800-123378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:123371400-123376400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:123371600-123380000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:123371800-123376200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:123371800-123376200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:123371800-123378400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr12:123372200-123378400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:123373200-123376200	Enhancers	Fetal Brain Female	brain
13	chr12:123373200-123377800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:123373200-123377800	Enhancers	Fetal Heart	heart
15	chr12:123373200-123378600	Enhancers	Liver	Liver
16	chr12:123373400-123376400	Weak transcription	Fetal Kidney	kidney
17	chr12:123373400-123377600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr12:123373400-123378800	Enhancers	Fetal Muscle Leg	muscle
19	chr12:123373400-123379000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:123373600-123378800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:123373800-123376200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:123373800-123376200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:123373800-123376200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:123373800-123376200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr12:123373800-123376400	Enhancers	Stomach Mucosa	stomach
26	chr12:123373800-123376800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:123373800-123377200	Enhancers	Primary T cells from cord blood	blood
28	chr12:123373800-123378600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:123373800-123378600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:123373800-123378600	Enhancers	HUVEC	blood vessel
31	chr12:123373800-123378800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:123373800-123378800	Enhancers	Fetal Thymus	thymus
33	chr12:123373800-123379000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:123373800-123379000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:123373800-123379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:123373800-123379200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:123373800-123379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:123374000-123376200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:123374000-123376200	Weak transcription	Aorta	Aorta
40	chr12:123374000-123376200	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:123374000-123376400	Enhancers	Brain Substantia Nigra	brain
42	chr12:123374000-123377200	Enhancers	Dnd41	blood
43	chr12:123374000-123377400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:123374000-123379000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:123374600-123376200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:123374600-123376200	Weak transcription	Esophagus	oesophagus
47	chr12:123374600-123376200	Weak transcription	Right Atrium	heart
48	chr12:123374600-123376400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:123374600-123377400	Weak transcription	Pancreas	Pancrea
50	chr12:123374600-123377800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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