Variant report

Variant	rs11679008
Chromosome Location	chr2:234266340-234266341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234265828..234267966-chr2:234273023..234275764,2	K562	blood:
2	chr2:234264990..234266555-chr2:234275771..234278254,2	K562	blood:
3	chr2:234262735..234265593-chr2:234266002..234267611,2	K562	blood:

Variant related genes	Relation type
ENSG00000243637	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10153744	0.83[ASN][1000 genomes]
rs1046976	0.86[EUR][1000 genomes]
rs11675531	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384918	0.86[EUR][1000 genomes]
rs13420688	0.86[EUR][1000 genomes]
rs55684040	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55693723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55804614	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55893802	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55983182	0.83[ASN][1000 genomes]
rs56082182	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56405280	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58280122	0.95[EUR][1000 genomes]
rs6431364	0.83[ASN][1000 genomes]
rs6722763	0.83[ASN][1000 genomes]
rs6759246	0.83[ASN][1000 genomes]
rs72978363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72978374	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978375	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980318	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7566221	0.83[ASN][1000 genomes]
rs7573866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576633	0.83[ASN][1000 genomes]
rs7580412	0.83[ASN][1000 genomes]
rs7598771	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1796836	chr2:234263212-234266842	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234263800-234268400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:234263800-234268400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr2:234264000-234267800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr2:234264200-234266600	Enhancers	Spleen	Spleen
5	chr2:234264400-234266400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:234264400-234266600	Enhancers	Gastric	stomach
7	chr2:234264400-234266600	Enhancers	Lung	lung
8	chr2:234264400-234266600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:234264400-234267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:234264400-234268800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:234264400-234268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:234264400-234269000	Weak transcription	NHLF	lung
13	chr2:234264400-234269600	Weak transcription	Aorta	Aorta
14	chr2:234264400-234274800	Weak transcription	NHDF-Ad	bronchial
15	chr2:234264400-234287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:234264600-234266400	Enhancers	Fetal Brain Male	brain
17	chr2:234264600-234266600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:234264600-234266600	Enhancers	Fetal Thymus	thymus
19	chr2:234264600-234266600	Enhancers	Small Intestine	intestine
20	chr2:234264600-234267400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:234264600-234267400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:234264600-234267600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:234264600-234272400	Weak transcription	HUVEC	blood vessel
24	chr2:234264600-234290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:234264800-234267000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:234264800-234267200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:234264800-234268000	Enhancers	Adipose Nuclei	Adipose
29	chr2:234264800-234268400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:234264800-234268600	Weak transcription	K562	blood
31	chr2:234264800-234269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:234264800-234269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:234264800-234271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:234264800-234272200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:234264800-234289200	Weak transcription	Esophagus	oesophagus
36	chr2:234264800-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:234265000-234266400	Enhancers	Placenta	Placenta
38	chr2:234265000-234266600	Strong transcription	Fetal Stomach	stomach
39	chr2:234265000-234268000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:234265000-234268200	Enhancers	Colon Smooth Muscle	Colon
41	chr2:234265000-234268600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:234265000-234272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:234265000-234283800	Weak transcription	Thymus	Thymus
44	chr2:234265000-234295000	Weak transcription	Osteobl	bone
45	chr2:234265200-234266600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:234265200-234266800	Genic enhancers	HepG2	liver
47	chr2:234265200-234269600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:234265200-234269800	Weak transcription	Brain Angular Gyrus	brain
49	chr2:234265200-234269800	Weak transcription	Psoas Muscle	Psoas
50	chr2:234265200-234284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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