Variant report

Variant	rs4553431
Chromosome Location	chr12:4432191-4432192
allele	A/G/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	ZNF384	chr12:4432118-4432459	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:4431965-4432358	GM12878	blood:	n/a	n/a
3	TBP	chr12:4431859-4432236	GM12878	blood:	n/a	n/a
4	TAF1	chr12:4431986-4432270	GM12878	blood:	n/a	n/a
5	PAX5	chr12:4432074-4432276	GM12878	blood:	n/a	n/a
6	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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11615591	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3885283	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3900745	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7296163	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9738672	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4429400-4432200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:4429400-4432200	Active TSS	GM12878-XiMat	blood
3	chr12:4429400-4433200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:4429600-4432200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:4430000-4432400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:4430800-4433400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:4431000-4432200	Enhancers	Small Intestine	intestine
8	chr12:4431000-4433200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:4431000-4433200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:4431000-4433200	Weak transcription	Gastric	stomach
11	chr12:4431000-4433400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:4431000-4433600	Weak transcription	Esophagus	oesophagus
13	chr12:4431000-4439600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:4431200-4432200	Enhancers	Fetal Brain Male	brain
15	chr12:4431200-4432400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:4431200-4432600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:4431200-4432600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:4431200-4432800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:4431200-4432800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:4431200-4433000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:4431200-4433000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:4431200-4433200	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:4431200-4433200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:4431200-4433400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:4431200-4433400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:4431200-4433400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:4431200-4433600	Enhancers	Primary T cells from cord blood	blood
28	chr12:4431200-4443400	Weak transcription	Aorta	Aorta
29	chr12:4431200-4444600	Weak transcription	HSMMtube	muscle
30	chr12:4431200-4446400	Weak transcription	Fetal Stomach	stomach
31	chr12:4431200-4446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
34	chr12:4431400-4432200	Enhancers	Right Atrium	heart
35	chr12:4431400-4432200	Flanking Active TSS	NHEK	skin
36	chr12:4431400-4432400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:4431400-4432400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:4431400-4432400	Enhancers	Stomach Smooth Muscle	stomach
39	chr12:4431400-4432600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:4431400-4432600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr12:4431400-4445800	Weak transcription	Fetal Thymus	thymus
42	chr12:4431400-4446200	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:4431400-4446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:4431400-4446400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:4431600-4432200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:4431600-4432200	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:4431600-4432200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:4431600-4432200	Enhancers	Osteobl	bone
49	chr12:4431600-4432400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:4431600-4432400	Enhancers	Duodenum Smooth Muscle	Duodenum

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