Variant report

Variant	rs4601329
Chromosome Location	chr8:126254561-126254562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126251128..126255077-chr8:126440822..126444078,4	MCF-7	breast:
2	chr8:126252965..126254791-chr8:126262901..126264885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11994861	0.89[JPT][hapmap]
rs12675943	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681602	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13249982	0.90[CEU][hapmap]
rs13253942	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13254947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13259062	1.00[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs13264500	0.90[EUR][1000 genomes]
rs13267325	0.88[EUR][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13273421	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs13277490	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16900452	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17310558	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17401283	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2384882	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34246020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34298715	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34313605	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34737949	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35033076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35140299	0.88[EUR][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35336507	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35861494	0.88[EUR][1000 genomes]
rs35955519	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3923300	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4360308	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs56135036	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66561774	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66826725	0.84[EUR][1000 genomes]
rs66929016	0.88[EUR][1000 genomes]
rs7011185	1.00[LWK][hapmap]
rs71516769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72720569	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461756	0.90[CEU][hapmap]
rs868227	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
3	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
5	chr8:126241400-126258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:126243000-126260000	Weak transcription	GM12878-XiMat	blood
7	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:126245400-126256200	Weak transcription	HSMM	muscle
9	chr8:126245600-126269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:126247200-126265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:126249600-126258000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:126250200-126265000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:126251400-126272000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:126251600-126265000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:126251600-126265200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:126254000-126255000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:126254000-126270400	Weak transcription	Hela-S3	cervix
18	chr8:126254200-126256600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:126254400-126255200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:126254400-126255400	Strong transcription	Primary B cells from cord blood	blood

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