Variant report

Variant	rs7591704
Chromosome Location	chr2:113521157-113521158
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113508884..113510742-chr2:113519395..113521615,3	K562	blood:
2	chr2:113402414..113404382-chr2:113520815..113523652,2	MCF-7	breast:
3	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:
4	chr2:113512278..113514695-chr2:113520095..113522998,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115008	Chromatin interaction
ENSG00000169607	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10165537	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193063	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10200192	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10203064	0.94[ASN][1000 genomes]
rs11123149	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12463996	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12475027	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622683	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13013602	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13015273	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13016817	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13019249	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13026263	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13036237	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13382217	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13429613	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17649681	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2862226	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3811040	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3827761	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4261731	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4848298	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849118	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55762606	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58694576	0.84[EUR][1000 genomes]
rs6706663	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6712572	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6721044	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6721292	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6753803	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7577241	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594852	0.98[EUR][1000 genomes]
rs7599690	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7607470	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
2	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:113512600-113521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:113512800-113521200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:113512800-113521200	Weak transcription	Placenta	Placenta
12	chr2:113514400-113521200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:113514600-113521200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:113514600-113521200	Weak transcription	Fetal Kidney	kidney
15	chr2:113514800-113521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:113515400-113521200	Weak transcription	Fetal Brain Male	brain
17	chr2:113515400-113521200	Weak transcription	Fetal Intestine Large	intestine
18	chr2:113515400-113521600	Weak transcription	Spleen	Spleen
19	chr2:113515600-113521600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:113516200-113521200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:113516200-113521600	Weak transcription	Liver	Liver
22	chr2:113516600-113521600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:113517000-113521400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:113519200-113521600	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr2:113519600-113521200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:113519600-113521400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:113519600-113521600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:113519800-113521200	Flanking Active TSS	HepG2	liver
29	chr2:113519800-113523000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:113520000-113521200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:113520000-113521400	Weak transcription	Stomach Mucosa	stomach
32	chr2:113520200-113521400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:113520200-113521600	Flanking Active TSS	HMEC	breast
34	chr2:113520200-113522800	Active TSS	GM12878-XiMat	blood
35	chr2:113520400-113521200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:113520400-113521400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:113520400-113521800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:113520600-113521200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:113520600-113521200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr2:113520600-113521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:113520600-113521400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:113520600-113521400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:113520600-113521400	Enhancers	Fetal Lung	lung
44	chr2:113520600-113521400	Flanking Active TSS	NHLF	lung
45	chr2:113520600-113521600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:113520600-113522200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr2:113520800-113521200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr2:113520800-113521200	Active TSS	Fetal Stomach	stomach
49	chr2:113520800-113521200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr2:113520800-113521400	Enhancers	Primary T cells from cord blood	blood

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