Variant report

Variant	rs7578724
Chromosome Location	chr2:113334357-113334358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113308061..113310862-chr2:113332037..113334578,2	K562	blood:
2	chr2:113316674..113318264-chr2:113333845..113335614,2	MCF-7	breast:
3	chr2:113332582..113336082-chr2:113340503..113343109,3	K562	blood:
4	chr2:113298583..113301230-chr2:113332554..113334475,2	K562	blood:
5	chr2:113297854..113301606-chr2:113334028..113336907,4	K562	blood:

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10153558	0.86[CHB][hapmap]
rs10153801	0.86[CHB][hapmap]
rs10864905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123139	0.90[ASN][1000 genomes]
rs11123140	0.86[ASN][1000 genomes]
rs11123141	0.88[ASN][1000 genomes]
rs11675730	0.90[ASN][1000 genomes]
rs11676962	0.90[ASN][1000 genomes]
rs11677050	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11689338	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12618629	0.97[ASN][1000 genomes]
rs12618882	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13015669	0.90[ASN][1000 genomes]
rs1437673	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1437675	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1545133	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1595388	0.88[ASN][1000 genomes]
rs2304555	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs35832933	0.94[ASN][1000 genomes]
rs3748024	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs3789723	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3816140	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3816141	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3961775	0.90[ASN][1000 genomes]
rs41278940	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41280572	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4849072	0.89[ASN][1000 genomes]
rs4849073	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4849074	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4849075	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4849076	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56081241	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60703755	0.90[ASN][1000 genomes]
rs7568539	0.90[ASN][1000 genomes]
rs7607358	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 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	chr2:113301200-113340200	Weak transcription	Right Atrium	heart
2	chr2:113301200-113341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113303000-113334400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:113303000-113334400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:113303000-113335200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113303200-113334600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:113303400-113334400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:113303400-113334600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:113303600-113334400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:113303600-113334400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:113303600-113334400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr2:113303600-113334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:113303600-113334600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:113303600-113334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:113303600-113334800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:113303600-113335000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:113303600-113335000	Strong transcription	Fetal Thymus	thymus
18	chr2:113303600-113335200	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:113303800-113334800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr2:113304400-113334400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:113304400-113335000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:113304600-113334400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:113305400-113334800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:113306600-113334400	Strong transcription	Liver	Liver
25	chr2:113306800-113334600	Strong transcription	HepG2	liver
26	chr2:113312400-113334400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:113314600-113335000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:113314800-113334600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:113315600-113335000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:113320800-113334800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:113320800-113335000	Strong transcription	A549	lung
32	chr2:113321000-113334400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:113321200-113335000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:113321600-113334400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:113321600-113334600	Strong transcription	NHEK	skin
36	chr2:113324600-113334600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:113325000-113334400	Strong transcription	Brain Angular Gyrus	brain
38	chr2:113325000-113334400	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:113325200-113334400	Strong transcription	Thymus	Thymus
40	chr2:113325400-113334400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr2:113325400-113334400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:113326400-113340200	Weak transcription	Stomach Mucosa	stomach
43	chr2:113326600-113334400	Strong transcription	Ovary	ovary
44	chr2:113326600-113334400	Strong transcription	GM12878-XiMat	blood
45	chr2:113326600-113334800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:113326600-113341000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:113326800-113334400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr2:113326800-113334800	Strong transcription	Primary B cells from cord blood	blood
49	chr2:113327000-113334800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:113327000-113335200	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links