Variant report

Variant	rs4370022
Chromosome Location	chr3:118941892-118941893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:118941485-118942802	A549	lung:	n/a	n/a
2	POLR2A	chr3:118941718-118941964	GM12878	blood:	n/a	n/a

No data

(count:7 , 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	chr3:118939288..118941901-chr3:119040506..119042360,2	MCF-7	breast:
4	chr3:118941777..118944031-chr3:118945935..118948181,2	K562	blood:
5	chr3:118936929..118943025-chr3:118955744..118960820,7	K562	blood:
6	chr3:118940569..118944138-chr3:118958769..118961318,3	K562	blood:
7	chr3:118941209..118944309-chr3:118948466..118952562,3	K562	blood:

No data

Variant related genes	Relation type
B4GALT4-AS1	TF binding region
ENSG00000241155	Chromatin interaction
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10511382	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927939	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12634868	0.91[EUR][1000 genomes]
rs13081519	0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs16829477	0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829479	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3796356	0.87[EUR][1000 genomes]
rs3796357	0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs4687840	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4687981	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687982	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57258193	0.91[EUR][1000 genomes]
rs58939003	0.91[EUR][1000 genomes]
rs61162364	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6438502	0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs6438506	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7426444	0.82[CHB][hapmap];0.87[EUR][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	chr3:118927000-118943200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:118927000-118952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:118927000-118953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:118927000-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:118927200-118943000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:118927200-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:118927200-118955200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:118927400-118950200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:118927400-118953000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:118927600-118952400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:118927800-118943400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:118927800-118956400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:118928000-118943000	Strong transcription	Fetal Muscle Leg	muscle
16	chr3:118928000-118955600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:118928200-118943200	Strong transcription	Fetal Stomach	stomach
18	chr3:118928200-118943400	Strong transcription	Adipose Nuclei	Adipose
19	chr3:118928200-118951000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:118928800-118950000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:118929000-118943000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:118929000-118943200	Strong transcription	Left Ventricle	heart
23	chr3:118929000-118943600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:118929000-118944200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:118929200-118956200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:118929200-118956200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:118929200-118956400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:118929200-118956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:118929400-118943000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr3:118930000-118943000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr3:118930000-118943600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:118930000-118949800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:118930000-118955400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr3:118930200-118943600	Strong transcription	HMEC	breast
35	chr3:118930200-118955800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:118930200-118958400	Weak transcription	Hela-S3	cervix
37	chr3:118930400-118943400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:118930800-118942400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr3:118931600-118957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:118931800-118946400	Genic enhancers	A549	lung
41	chr3:118932600-118955800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:118933800-118942800	Strong transcription	Ovary	ovary
43	chr3:118935600-118943000	Strong transcription	NHEK	skin
44	chr3:118935800-118943000	Strong transcription	Aorta	Aorta
45	chr3:118935800-118947600	Weak transcription	HUVEC	blood vessel
46	chr3:118936000-118943000	Strong transcription	Esophagus	oesophagus
47	chr3:118936400-118945000	Weak transcription	NH-A	brain
48	chr3:118937200-118952600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:118938000-118942000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:118938200-118942000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links