Variant report

Variant	rs34246020
Chromosome Location	chr8:126246328-126246329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126245389..126247253-chr8:126445841..126448736,2	MCF-7	breast:
2	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs13253942	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13254947	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13259062	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13262348	0.92[ASN][1000 genomes]
rs13264500	0.94[EUR][1000 genomes]
rs13267325	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273421	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277490	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16900452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17310558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17401283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384882	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34694976	0.92[ASN][1000 genomes]
rs34737949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35033076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35140299	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35861494	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36081564	0.97[ASN][1000 genomes]
rs3923300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4360308	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4601329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.92[ASN][1000 genomes]
rs56135036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66561774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66826725	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66929016	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71516763	0.89[ASN][1000 genomes]
rs71516769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720569	0.88[EUR][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126249600	Weak transcription	Gastric	stomach
3	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
4	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:126241000-126247000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:126241000-126250200	Weak transcription	Psoas Muscle	Psoas
9	chr8:126241200-126251200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:126241400-126258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:126241600-126246800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:126243000-126260000	Weak transcription	GM12878-XiMat	blood
13	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
14	chr8:126243600-126253400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:126243800-126246600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:126243800-126246800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:126243800-126246800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:126243800-126246800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:126243800-126246800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:126244200-126247000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:126244800-126247200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:126245400-126256200	Weak transcription	HSMM	muscle
23	chr8:126245600-126246800	Weak transcription	A549	lung
24	chr8:126245600-126249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:126245600-126249400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:126245600-126249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:126245600-126251800	Weak transcription	HepG2	liver
28	chr8:126245600-126269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:126246000-126248200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:126246200-126249000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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