Variant report

Variant	rs9738672
Chromosome Location	chr12:4432243-4432244
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	ZNF384	chr12:4432118-4432459	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:4431965-4432358	GM12878	blood:	n/a	n/a
3	TAF1	chr12:4431986-4432270	GM12878	blood:	n/a	n/a
4	PAX5	chr12:4432074-4432276	GM12878	blood:	n/a	n/a
5	SPI1	chr12:4432006-4432298	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:4426548..4433577-chr12:4433933..4442534,18	MCF-7	breast:
2	chr12:4429599..4431806-chr12:4431881..4434524,2	MCF-7	breast:
3	chr12:4430492..4433643-chr12:4433748..4435447,3	K562	blood:

Variant related genes	Relation type
C12orf5	TF binding region
ENSG00000078237	Chromatin interaction
ENSG00000213970	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11063086	0.81[ASN][1000 genomes]
rs11615591	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12830506	0.81[ASN][1000 genomes]
rs3885283	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3900745	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4553431	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296163	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7975585	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4429400-4433200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:4430000-4432400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:4430800-4433400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:4431000-4433200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:4431000-4433200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:4431000-4433200	Weak transcription	Gastric	stomach
7	chr12:4431000-4433400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:4431000-4433600	Weak transcription	Esophagus	oesophagus
9	chr12:4431000-4439600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:4431200-4432400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:4431200-4432600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:4431200-4432600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:4431200-4432800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:4431200-4432800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:4431200-4433000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:4431200-4433000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:4431200-4433200	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:4431200-4433200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:4431200-4433400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:4431200-4433400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:4431200-4433400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:4431200-4433600	Enhancers	Primary T cells from cord blood	blood
23	chr12:4431200-4443400	Weak transcription	Aorta	Aorta
24	chr12:4431200-4444600	Weak transcription	HSMMtube	muscle
25	chr12:4431200-4446400	Weak transcription	Fetal Stomach	stomach
26	chr12:4431200-4446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
29	chr12:4431400-4432400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:4431400-4432400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:4431400-4432400	Enhancers	Stomach Smooth Muscle	stomach
32	chr12:4431400-4432600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:4431400-4432600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:4431400-4445800	Weak transcription	Fetal Thymus	thymus
35	chr12:4431400-4446200	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:4431400-4446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:4431400-4446400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:4431600-4432400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:4431600-4432400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:4431600-4432400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:4431600-4432800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:4431600-4433000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:4431600-4433000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr12:4431600-4433200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:4431600-4433200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:4431600-4433200	Enhancers	HepG2	liver
47	chr12:4431600-4433600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:4431600-4433600	Weak transcription	Lung	lung
49	chr12:4431600-4435000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:4431600-4441000	Weak transcription	Brain Angular Gyrus	brain

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