Variant report

Variant	rs6712572
Chromosome Location	chr2:113520678-113520679
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113511556..113515494-chr2:113516132..113520858,6	K562	blood:
2	chr2:113508884..113510742-chr2:113519395..113521615,3	K562	blood:
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

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10165537	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187872	0.86[CHB][hapmap];0.80[EUR][1000 genomes]
rs10193063	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203064	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10496444	0.81[CHB][hapmap]
rs10496445	0.82[CHB][hapmap]
rs11123148	0.80[EUR][1000 genomes]
rs11123149	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463996	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475027	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12478842	0.82[CHB][hapmap]
rs12622683	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12711741	0.82[CHB][hapmap]
rs13008855	1.00[YRI][hapmap]
rs13009294	0.82[CHB][hapmap]
rs13013602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13015273	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13016817	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13019249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13026263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027814	0.82[CHB][hapmap]
rs13036237	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13382217	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13429613	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609682	0.81[CHB][hapmap]
rs17649681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071373	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2138606	0.81[CHB][hapmap]
rs2862226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783521	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs3783525	0.81[CHB][hapmap]
rs3783526	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs3783546	0.82[CHB][hapmap]
rs3783550	0.81[CHB][hapmap]
rs3811040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4261731	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4848298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848301	0.81[CHB][hapmap]
rs4848302	0.82[CHB][hapmap]
rs4849115	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs4849118	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55762606	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58694576	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6542095	0.81[CHB][hapmap]
rs6706663	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721044	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721292	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753803	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577241	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7591704	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7594852	0.97[EUR][1000 genomes]
rs7599690	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607470	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs908551	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
4	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:113510600-113520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:113512600-113520800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:113512600-113521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:113512800-113521200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:113512800-113521200	Weak transcription	Placenta	Placenta
18	chr2:113514000-113521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:113514200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:113514400-113521200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:113514600-113521200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:113514600-113521200	Weak transcription	Fetal Kidney	kidney
23	chr2:113514800-113520800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:113514800-113521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:113515400-113521200	Weak transcription	Fetal Brain Male	brain
26	chr2:113515400-113521200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:113515400-113521600	Weak transcription	Spleen	Spleen
28	chr2:113515600-113521600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:113516200-113521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:113516200-113521200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:113516200-113521600	Weak transcription	Liver	Liver
32	chr2:113516600-113520800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:113516600-113521600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:113517000-113521400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:113518200-113520800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:113519200-113521600	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr2:113519400-113520800	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:113519600-113521000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:113519600-113521000	Enhancers	Fetal Heart	heart
40	chr2:113519600-113521200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:113519600-113521400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:113519600-113521600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:113519800-113520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:113519800-113520800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:113519800-113520800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:113519800-113520800	Enhancers	Thymus	Thymus
47	chr2:113519800-113520800	Enhancers	Hela-S3	cervix
48	chr2:113519800-113521200	Flanking Active TSS	HepG2	liver
49	chr2:113519800-113523000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:113520000-113520800	Enhancers	HUVEC	blood vessel

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