Variant report

Variant	rs4738025
Chromosome Location	chr8:54742376-54742377
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	chr8:54740691..54743527-chr8:54744016..54746661,2	K562	blood:
2	chr8:54740899..54743524-chr8:54747224..54749984,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1031979	1.00[CEU][hapmap]
rs1031980	1.00[CEU][hapmap]
rs10435587	1.00[CEU][hapmap]
rs11996300	0.80[AMR][1000 genomes]
rs12056719	1.00[CEU][hapmap]
rs12115070	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12234972	0.85[CEU][hapmap]
rs1552148	1.00[CEU][hapmap]
rs16919507	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs16919508	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs16919522	1.00[CEU][hapmap]
rs16919534	1.00[CEU][hapmap]
rs16919537	1.00[CEU][hapmap]
rs16919541	1.00[CEU][hapmap]
rs16919563	1.00[CEU][hapmap]
rs16919571	1.00[CEU][hapmap]
rs16919573	1.00[CEU][hapmap]
rs1872063	1.00[CEU][hapmap]
rs1905061	1.00[CEU][hapmap]
rs2128150	1.00[CEU][hapmap]
rs2170444	1.00[CEU][hapmap]
rs2376011	1.00[CEU][hapmap]
rs3735831	1.00[CEU][hapmap]
rs3824121	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs41321146	1.00[CEU][hapmap]
rs4236945	1.00[CEU][hapmap]
rs4737192	1.00[CEU][hapmap]
rs4737554	1.00[CEU][hapmap]
rs4737558	1.00[CEU][hapmap]
rs4737753	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4737761	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4737764	1.00[CEU][hapmap]
rs4737765	1.00[CEU][hapmap]
rs4737821	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs4737974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738701	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs4738884	1.00[CEU][hapmap]
rs4738916	1.00[CEU][hapmap]
rs56956173	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57071607	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57550901	0.81[ASN][1000 genomes]
rs58970885	0.81[ASN][1000 genomes]
rs6473893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6984257	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6986372	0.85[CEU][hapmap]
rs6987427	1.00[CEU][hapmap]
rs6988009	1.00[CEU][hapmap]
rs6988082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6988808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6988812	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6994851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6997003	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6997127	1.00[CEU][hapmap]
rs6998532	0.89[YRI][hapmap]
rs6999454	1.00[CEU][hapmap]
rs7005696	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7006934	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7009705	0.81[ASN][1000 genomes]
rs7018162	1.00[CEU][hapmap]
rs73680316	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73680321	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843701	1.00[CEU][hapmap]
rs900163	1.00[CEU][hapmap]
rs958268	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs9643820	1.00[CEU][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
2	chr8:54687600-54753600	Weak transcription	A549	lung
3	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:54720000-54745800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
8	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:54727000-54745600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:54727000-54745800	Weak transcription	Gastric	stomach
11	chr8:54728200-54752200	Weak transcription	Stomach Mucosa	stomach
12	chr8:54732600-54752800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:54734400-54748200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:54735200-54752800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:54735200-54753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:54735600-54744200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:54735800-54753600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:54736200-54752800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:54736800-54744200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:54737600-54746200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:54737600-54749400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:54737600-54752800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:54737800-54744800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:54737800-54750400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:54737800-54752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:54738000-54744400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr8:54738000-54750200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:54738200-54744400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:54738200-54749400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr8:54738200-54752600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:54738600-54742400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:54738600-54744200	Strong transcription	Adipose Nuclei	Adipose
33	chr8:54738600-54744200	Strong transcription	Brain Anterior Caudate	brain
34	chr8:54738600-54744200	Strong transcription	GM12878-XiMat	blood
35	chr8:54738600-54744800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:54738600-54744800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:54738600-54745000	Strong transcription	Liver	Liver
38	chr8:54738600-54746600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:54738600-54750600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr8:54738600-54751600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:54738600-54751600	Strong transcription	Dnd41	blood
42	chr8:54738600-54751800	Strong transcription	Primary T cells from cord blood	blood
43	chr8:54738600-54753000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:54738600-54753800	Strong transcription	Fetal Thymus	thymus
45	chr8:54738800-54744200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr8:54738800-54746400	Strong transcription	Placenta	Placenta
47	chr8:54738800-54746800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:54738800-54754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:54738800-54755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:54739000-54744400	Strong transcription	Left Ventricle	heart

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