Variant report

Variant	rs66561774
Chromosome Location	chr8:126240333-126240334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
2	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:
3	chr8:126102769..126104821-chr8:126238208..126240450,2	MCF-7	breast:
4	chr8:126230421..126233319-chr8:126238553..126242125,3	MCF-7	breast:
5	chr8:126239449..126242296-chr8:126447822..126450391,2	MCF-7	breast:
6	chr8:126239983..126246163-chr8:126440449..126448219,20	MCF-7	breast:
7	chr8:126240073..126242542-chr8:126442381..126444046,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 53 )
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];1.00[ASN][1000 genomes]
rs13254947	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.95[ASN][1000 genomes]
rs13264500	0.94[EUR][1000 genomes]
rs13267325	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.95[ASN][1000 genomes]
rs34737949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.95[ASN][1000 genomes]
rs56135036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126245200	Weak transcription	Pancreas	Pancrea
3	chr8:126233800-126249600	Weak transcription	Gastric	stomach
4	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
5	chr8:126234000-126242400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:126234200-126242800	Weak transcription	Hela-S3	cervix
7	chr8:126235600-126241800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:126235600-126243800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:126237800-126240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:126237800-126240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:126237800-126242600	Weak transcription	Small Intestine	intestine
12	chr8:126237800-126243400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:126237800-126246000	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:126238000-126241000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr8:126238600-126242000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:126238800-126240800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:126238800-126241200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:126238800-126244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:126238800-126244800	Weak transcription	Adipose Nuclei	Adipose
20	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:126239000-126240800	Weak transcription	NHDF-Ad	bronchial
22	chr8:126239000-126243400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:126239000-126244800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:126239000-126244800	Weak transcription	Osteobl	bone
25	chr8:126239200-126240800	Weak transcription	K562	blood
26	chr8:126239200-126241000	Weak transcription	NHEK	skin
27	chr8:126239200-126243400	Weak transcription	HepG2	liver
28	chr8:126239200-126245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:126239400-126240600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:126239400-126240600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:126239400-126241000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:126239400-126242600	Weak transcription	Aorta	Aorta
33	chr8:126239400-126242800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:126239400-126243600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:126239400-126244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:126239600-126240400	Enhancers	Primary T cells from cord blood	blood
37	chr8:126239600-126240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:126239600-126240800	Weak transcription	HMEC	breast
39	chr8:126239600-126241000	Weak transcription	Brain Angular Gyrus	brain
40	chr8:126239600-126242400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:126239600-126242400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:126239600-126242400	Weak transcription	GM12878-XiMat	blood
43	chr8:126239600-126242800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:126239600-126242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:126239600-126242800	Weak transcription	Lung	lung
46	chr8:126239600-126243200	Weak transcription	Primary B cells from cord blood	blood
47	chr8:126239600-126244000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:126239600-126245200	Weak transcription	Fetal Intestine Small	intestine
49	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:126239800-126240600	Weak transcription	Fetal Brain Male	brain

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