Variant report

Variant	rs2028975
Chromosome Location	chr8:99833424-99833425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99827662..99833667-chr8:99834168..99840063,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10447977	0.83[EUR][1000 genomes]
rs12679734	0.92[EUR][1000 genomes]
rs12680195	0.81[EUR][1000 genomes]
rs1447245	0.82[EUR][1000 genomes]
rs1476181	0.84[EUR][1000 genomes]
rs1961744	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2442010	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2442011	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442012	0.83[EUR][1000 genomes]
rs2442013	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442014	0.83[EUR][1000 genomes]
rs2442015	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515214	0.85[EUR][1000 genomes]
rs2515215	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515216	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515219	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515221	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515224	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515225	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922066	0.82[EUR][1000 genomes]
rs2922073	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2922074	0.96[EUR][1000 genomes]
rs2922075	0.85[EUR][1000 genomes]
rs2922076	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2922078	0.85[EUR][1000 genomes]
rs2922081	0.85[EUR][1000 genomes]
rs2922084	0.82[EUR][1000 genomes]
rs3019290	0.89[EUR][1000 genomes]
rs3019291	0.90[EUR][1000 genomes]
rs3019293	0.86[EUR][1000 genomes]
rs34281206	0.83[EUR][1000 genomes]
rs35536167	0.83[EUR][1000 genomes]
rs4255105	0.93[EUR][1000 genomes]
rs4304299	0.83[EUR][1000 genomes]
rs4413739	0.83[EUR][1000 genomes]
rs4562286	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99813800-99836400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:99813800-99836400	Weak transcription	Fetal Stomach	stomach
3	chr8:99820800-99835600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:99821200-99836400	Weak transcription	A549	lung
5	chr8:99821400-99834000	Weak transcription	Fetal Heart	heart
6	chr8:99821400-99836600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:99821600-99836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:99823400-99836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:99823600-99836400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:99825600-99837000	Weak transcription	Aorta	Aorta
11	chr8:99825800-99835600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:99827000-99837200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:99827000-99837400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:99827200-99836600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:99828400-99837400	Weak transcription	Gastric	stomach
16	chr8:99828600-99834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:99828800-99835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:99828800-99835600	Weak transcription	Liver	Liver
19	chr8:99828800-99837400	Weak transcription	Spleen	Spleen
20	chr8:99829600-99836000	Weak transcription	Right Atrium	heart
21	chr8:99829600-99836800	Weak transcription	Lung	lung
22	chr8:99829600-99836800	Weak transcription	Pancreas	Pancrea
23	chr8:99830400-99835600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:99830400-99835600	Weak transcription	Hela-S3	cervix
25	chr8:99830400-99836000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:99830400-99836000	Weak transcription	Fetal Intestine Small	intestine
27	chr8:99830400-99836200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:99830400-99836400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:99830400-99836400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:99830400-99836400	Weak transcription	Small Intestine	intestine
31	chr8:99830400-99836600	Weak transcription	Right Ventricle	heart
32	chr8:99830400-99836800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:99830600-99833800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:99830600-99835000	Weak transcription	Fetal Intestine Large	intestine
35	chr8:99830600-99835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:99830600-99835400	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:99830600-99835400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:99830600-99835600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:99830600-99836000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:99830600-99836000	Weak transcription	Fetal Lung	lung
41	chr8:99830600-99836400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:99830800-99834000	Weak transcription	NHDF-Ad	bronchial
43	chr8:99830800-99835600	Weak transcription	HMEC	breast
44	chr8:99830800-99835600	Weak transcription	NHLF	lung
45	chr8:99831600-99835000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:99831800-99834000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:99831800-99834600	Weak transcription	Placenta	Placenta
48	chr8:99831800-99836400	Weak transcription	Psoas Muscle	Psoas
49	chr8:99832000-99834000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:99832200-99834000	Weak transcription	NHEK	skin

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