Variant report

Variant	rs827529
Chromosome Location	chr8:104313605-104313606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:104313488-104313808	IMR90	lung:	n/a	chr8:104313773-104313785
2	CEBPB	chr8:104313596-104313767	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
2	chr8:104313517..104316996-chr8:104385407..104388642,4	MCF-7	breast:
3	chr8:104313102..104315253-chr8:104317116..104318953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	TF binding region
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12680121	0.88[AMR][1000 genomes]
rs1610204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16870349	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17207827	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17801975	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17802011	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2687347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687355	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687367	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2934725	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468868	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7005750	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703808	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs703809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827532	1.00[EUR][1000 genomes]
rs827542	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827544	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827548	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs827549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827553	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs827589	0.89[AMR][1000 genomes]
rs827591	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs827594	0.83[AMR][1000 genomes]
rs827600	0.83[AMR][1000 genomes]
rs860410	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs861169	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104308600-104313800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:104310000-104313800	Active TSS	Aorta	Aorta
3	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
4	chr8:104311800-104320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104311800-104320200	Weak transcription	Placenta	Placenta
6	chr8:104311800-104320200	Weak transcription	HSMM	muscle
7	chr8:104311800-104321200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:104311800-104327800	Weak transcription	Pancreas	Pancrea
9	chr8:104311800-104331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:104311800-104331400	Weak transcription	Liver	Liver
11	chr8:104311800-104331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:104312000-104316400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:104312000-104326600	Weak transcription	Gastric	stomach
15	chr8:104312000-104337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:104312000-104337200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
18	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
19	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
20	chr8:104312200-104317600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:104312200-104320000	Weak transcription	Left Ventricle	heart
22	chr8:104312200-104320600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:104312200-104337200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:104312200-104337800	Weak transcription	Primary T cells from cord blood	blood
25	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:104312400-104313800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:104312400-104314200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:104312400-104317200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:104312400-104317400	Weak transcription	Brain Substantia Nigra	brain
30	chr8:104312400-104319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:104312400-104331400	Weak transcription	Fetal Stomach	stomach
32	chr8:104312400-104332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
35	chr8:104312400-104350000	Weak transcription	Lung	lung
36	chr8:104312600-104313800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:104312600-104313800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:104312600-104314000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:104312600-104316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:104312600-104317200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:104312600-104317400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:104312600-104319200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:104312600-104320000	Weak transcription	Ovary	ovary
44	chr8:104312600-104320800	Weak transcription	Adipose Nuclei	Adipose
45	chr8:104312600-104327400	Weak transcription	A549	lung
46	chr8:104312600-104337200	Weak transcription	Brain Angular Gyrus	brain
47	chr8:104312600-104342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
49	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:104312800-104316400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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