Variant report

Variant	rs2326597
Chromosome Location	chr8:61674360-61674361
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61669414..61671448-chr8:61672725..61675279,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088263	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1038353	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957159	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957160	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775560	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12056700	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13255052	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13278198	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34022185	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34345692	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35149496	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35254359	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35687554	0.84[AMR][1000 genomes]
rs35914442	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471900	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471904	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67670110	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6987611	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6988835	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6989150	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6994642	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7460516	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823926	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833957	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7846314	0.99[ASN][1000 genomes]
rs9298041	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:61657000-61690400	Weak transcription	HepG2	liver
3	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
5	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:61665000-61674400	Weak transcription	Primary B cells from cord blood	blood
7	chr8:61665000-61674800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:61665000-61677600	Weak transcription	Psoas Muscle	Psoas
9	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:61665200-61674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:61665200-61674800	Weak transcription	Left Ventricle	heart
12	chr8:61665200-61677200	Weak transcription	Fetal Thymus	thymus
13	chr8:61665400-61674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:61665600-61674800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:61665800-61679000	Weak transcription	Adipose Nuclei	Adipose
16	chr8:61667200-61674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:61671200-61674600	Weak transcription	Right Ventricle	heart
18	chr8:61671600-61675000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:61671800-61677400	Weak transcription	GM12878-XiMat	blood
20	chr8:61671800-61678200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:61671800-61679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:61672000-61681000	Weak transcription	NHEK	skin
23	chr8:61672000-61694400	Weak transcription	A549	lung
24	chr8:61672200-61674400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:61672200-61674600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:61672200-61674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:61672200-61674600	Weak transcription	Fetal Heart	heart
28	chr8:61672200-61675800	Weak transcription	HSMM	muscle
29	chr8:61672200-61677200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:61672200-61677800	Weak transcription	Fetal Brain Male	brain
31	chr8:61672200-61678800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:61672200-61693400	Weak transcription	Hela-S3	cervix
33	chr8:61672200-61694000	Weak transcription	HUVEC	blood vessel
34	chr8:61672400-61674400	Weak transcription	Fetal Lung	lung
35	chr8:61672400-61674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:61672400-61674800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:61672400-61674800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:61672400-61675200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:61672400-61677000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:61672400-61677200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:61672400-61679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:61672600-61674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:61672600-61674600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:61672600-61674600	Weak transcription	K562	blood
45	chr8:61672600-61674800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:61672600-61674800	Weak transcription	Brain Substantia Nigra	brain
47	chr8:61672600-61674800	Weak transcription	Right Atrium	heart
48	chr8:61672600-61675000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:61672600-61677200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:61672600-61677400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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