Variant report

Variant	rs12487934
Chromosome Location	chr3:118943404-118943405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:118943322-118943553	HepG2	liver:	n/a	chr3:118943424-118943435

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118941692..118943733-chr3:118945853..118947733,2	MCF-7	breast:
2	chr3:118941609..118943451-chr3:118957876..118959896,2	MCF-7	breast:
3	chr3:118941777..118944031-chr3:118945935..118948181,2	K562	blood:
4	chr3:118940569..118944138-chr3:118958769..118961318,3	K562	blood:
5	chr3:118943120..118945710-chr3:118958108..118960423,2	K562	blood:
6	chr3:118941209..118944309-chr3:118948466..118952562,3	K562	blood:

No data

Variant related genes	Relation type
B4GALT4-AS1	TF binding region
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10511383	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921352	1.00[ASN][1000 genomes]
rs12493956	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829569	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17203062	1.00[ASN][1000 genomes]
rs4284973	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422292	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568125	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776910	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784208	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7428178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614907	1.00[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:118924600-118945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:118927000-118952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:118927000-118953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:118927000-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:118927200-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:118927200-118955200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:118927400-118950200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:118927400-118953000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:118927600-118952400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:118927800-118956400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:118928000-118955600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:118928200-118951000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:118928800-118950000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:118929000-118943600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:118929000-118944200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:118929200-118956200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:118929200-118956200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:118929200-118956400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr3:118929200-118956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:118930000-118943600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:118930000-118949800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:118930000-118955400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:118930200-118943600	Strong transcription	HMEC	breast
25	chr3:118930200-118955800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:118930200-118958400	Weak transcription	Hela-S3	cervix
27	chr3:118931600-118957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:118931800-118946400	Genic enhancers	A549	lung
29	chr3:118932600-118955800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:118935800-118947600	Weak transcription	HUVEC	blood vessel
31	chr3:118936400-118945000	Weak transcription	NH-A	brain
32	chr3:118937200-118952600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:118938400-118944600	Weak transcription	Fetal Heart	heart
34	chr3:118938400-118947200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:118938400-118951200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:118938600-118945600	Weak transcription	Small Intestine	intestine
37	chr3:118938600-118947200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:118938600-118947800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:118939200-118947800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:118939400-118945200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:118940200-118950000	Strong transcription	Dnd41	blood
42	chr3:118940200-118950000	Strong transcription	GM12878-XiMat	blood
43	chr3:118940400-118944000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr3:118940800-118943800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:118941000-118944000	Strong transcription	Primary T cells from cord blood	blood
46	chr3:118941000-118944200	Strong transcription	Liver	Liver
47	chr3:118941000-118944800	Weak transcription	Stomach Mucosa	stomach
48	chr3:118941000-118953000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:118941400-118943600	Strong transcription	Colon Smooth Muscle	Colon
50	chr3:118941400-118944000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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