Variant report

Variant	rs57261641
Chromosome Location	chr8:66749581-66749582
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	chr8:66742670..66744931-chr8:66747437..66750078,2	K562	blood:
2	chr8:66748111..66750572-chr8:66932782..66935299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11995215	0.87[ASN][1000 genomes]
rs12114361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357474	0.83[ASN][1000 genomes]
rs56784317	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57517571	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57688867	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs58213885	0.91[ASN][1000 genomes]
rs58760509	0.91[ASN][1000 genomes]
rs59322796	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59342909	0.88[AFR][1000 genomes]
rs59587921	0.88[AFR][1000 genomes]
rs60213300	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61464990	0.91[ASN][1000 genomes]
rs61575731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61736485	0.91[ASN][1000 genomes]
rs6984768	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7005571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73693418	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73693420	0.91[ASN][1000 genomes]
rs7821744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824102	0.88[AFR][1000 genomes]
rs7833724	0.86[AFR][1000 genomes]
rs7836663	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66719400-66750000	Weak transcription	Hela-S3	cervix
2	chr8:66725400-66751200	Weak transcription	Fetal Heart	heart
3	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:66732600-66751000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:66732600-66751000	Weak transcription	Fetal Lung	lung
8	chr8:66733000-66752000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:66734800-66752600	Weak transcription	Left Ventricle	heart
10	chr8:66738600-66752600	Weak transcription	Pancreas	Pancrea
11	chr8:66740200-66752400	Weak transcription	Fetal Kidney	kidney
12	chr8:66742200-66752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:66742400-66749800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:66742800-66750000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:66743400-66750000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:66743800-66750400	Weak transcription	HepG2	liver
17	chr8:66744400-66751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:66744600-66750800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr8:66744600-66751000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:66744800-66751000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:66745000-66750400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:66745200-66751000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:66745200-66753000	Weak transcription	Gastric	stomach
24	chr8:66746000-66750000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:66746200-66752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:66746200-66752600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:66746400-66749600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr8:66746400-66750800	Flanking Active TSS	GM12878-XiMat	blood
29	chr8:66746600-66749800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr8:66746600-66749800	Enhancers	A549	lung
31	chr8:66746600-66751200	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:66747000-66749600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:66747000-66750000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:66747000-66751000	Enhancers	Brain Anterior Caudate	brain
35	chr8:66747000-66751200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr8:66747200-66752400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:66747400-66750000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:66747600-66749600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr8:66747600-66750200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:66747600-66751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:66747800-66750600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:66748000-66750000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:66748000-66750800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:66748000-66752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:66748000-66752400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:66748000-66752400	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:66748000-66752800	Weak transcription	Psoas Muscle	Psoas
48	chr8:66748000-66752800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:66748000-66754600	Active TSS	Primary T cells fromperipheralblood	blood
50	chr8:66748200-66749800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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