Variant report

Variant	rs4489311
Chromosome Location	chr8:125571856-125571857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
2	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
3	chr8:125543458..125545211-chr8:125571140..125573606,2	MCF-7	breast:
4	chr8:125570504..125573139-chr8:125763957..125765886,2	K562	blood:
5	chr8:125501995..125503698-chr8:125571689..125573791,2	K562	blood:
6	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
7	chr8:125570451..125574343-chr8:125825804..125829124,4	K562	blood:
8	chr8:125554525..125556837-chr8:125571840..125574093,4	K562	blood:
9	chr8:125539308..125541314-chr8:125571807..125574800,2	MCF-7	breast:
10	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:
11	chr8:125570946..125573544-chr8:125575024..125576793,2	MCF-7	breast:
12	chr8:125554525..125556396-chr8:125571840..125574093,2	K562	blood:
13	chr8:125570314..125572061-chr8:125572775..125574818,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10094916	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10099056	1.00[CEU][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10103773	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10110655	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11783209	1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12546733	0.92[EUR][1000 genomes]
rs13255599	0.89[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13256399	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16899688	0.85[CEU][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes]
rs17371123	0.89[JPT][hapmap]
rs2303955	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3750232	0.83[JPT][hapmap]
rs3763540	0.84[ASN][1000 genomes]
rs3763541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763542	1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763543	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3763544	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs3829035	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs6415485	0.88[EUR][1000 genomes]
rs6470253	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs6470254	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6997175	0.89[JPT][hapmap]
rs6997184	0.83[JPT][hapmap]
rs6998600	0.92[EUR][1000 genomes]
rs7010757	0.83[CHD][hapmap];0.83[JPT][hapmap];0.86[TSI][hapmap]
rs7015228	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7015374	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7821954	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7835397	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7841224	0.85[CEU][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs7846270	0.91[ASW][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv465801	chr8:125565328-125576681	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv612145	chr8:125565328-125576681	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv465802	chr8:125570144-125576681	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv612146	chr8:125570144-125576681	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
3	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
5	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
6	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
10	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
11	chr8:125554600-125574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:125554600-125575000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr8:125555200-125574000	Strong transcription	Placenta	Placenta
15	chr8:125555200-125575000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:125555200-125575200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr8:125555600-125574200	Strong transcription	Primary T cells from cord blood	blood
18	chr8:125556000-125574200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:125556200-125575000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:125557000-125572400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:125558000-125575600	Weak transcription	Stomach Mucosa	stomach
23	chr8:125558200-125573600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:125558800-125573200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:125559000-125572600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:125559200-125572400	Strong transcription	Lung	lung
27	chr8:125560400-125575000	Weak transcription	Right Atrium	heart
28	chr8:125561200-125572800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:125561200-125575200	Strong transcription	HepG2	liver
30	chr8:125561400-125572400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:125561400-125575000	Strong transcription	Adipose Nuclei	Adipose
32	chr8:125561400-125575600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:125561600-125573400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:125561600-125575000	Strong transcription	Liver	Liver
35	chr8:125563400-125572600	Strong transcription	Spleen	Spleen
36	chr8:125563600-125574400	Strong transcription	Right Ventricle	heart
37	chr8:125563600-125575600	Strong transcription	Fetal Stomach	stomach
38	chr8:125564000-125574000	Weak transcription	K562	blood
39	chr8:125564000-125574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:125564000-125575600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:125564200-125572600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:125564200-125574000	Strong transcription	Brain Germinal Matrix	brain
43	chr8:125564400-125572400	Strong transcription	Esophagus	oesophagus
44	chr8:125564400-125572800	Weak transcription	HSMMtube	muscle
45	chr8:125564400-125576800	Strong transcription	Fetal Intestine Small	intestine
46	chr8:125564800-125573400	Weak transcription	Hela-S3	cervix
47	chr8:125565600-125572400	Strong transcription	Pancreas	Pancrea
48	chr8:125566000-125575000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:125566000-125576400	Weak transcription	GM12878-XiMat	blood
50	chr8:125566000-125602400	Weak transcription	Aorta	Aorta

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