Variant report

Variant	rs2280917
Chromosome Location	chr8:61780220-61780221
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	chr8:61779349..61781362-chr8:61781612..61783188,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10086310	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10086349	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10094382	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17826359	0.81[EUR][1000 genomes]
rs3763591	0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3793444	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4237040	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4342642	0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4738834	0.81[EUR][1000 genomes]
rs6985168	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7839701	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 target site	11 gene(s)	inside rSNPs	diseases
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:61741800-61780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:61751800-61780400	Strong transcription	Fetal Intestine Large	intestine
4	chr8:61752600-61780400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:61753200-61782000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:61760400-61780400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:61761000-61780600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:61764400-61780400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:61765000-61780600	Weak transcription	Stomach Mucosa	stomach
10	chr8:61765000-61780800	Strong transcription	Primary B cells from cord blood	blood
11	chr8:61769600-61783000	Weak transcription	Small Intestine	intestine
12	chr8:61769600-61784000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:61769600-61785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:61769800-61788400	Weak transcription	Fetal Brain Female	brain
15	chr8:61773200-61780400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:61773200-61780400	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr8:61774600-61781400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:61774600-61784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:61775200-61789000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:61775400-61781000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:61775400-61790800	Weak transcription	Fetal Kidney	kidney
22	chr8:61775600-61781400	Strong transcription	Fetal Intestine Small	intestine
23	chr8:61776000-61780600	Weak transcription	NH-A	brain
24	chr8:61776000-61784200	Weak transcription	NHEK	skin
25	chr8:61776600-61784200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:61777400-61780400	Strong transcription	Gastric	stomach
27	chr8:61777600-61784800	Weak transcription	K562	blood
28	chr8:61777800-61780400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:61777800-61780800	Strong transcription	Hela-S3	cervix
30	chr8:61778000-61789600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:61778200-61780400	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:61778200-61784600	Weak transcription	Brain Germinal Matrix	brain
33	chr8:61778400-61780400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:61778400-61780600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:61778400-61781000	Enhancers	Brain Hippocampus Middle	brain
36	chr8:61778400-61781400	Weak transcription	Aorta	Aorta
37	chr8:61778400-61781400	Weak transcription	Dnd41	blood
38	chr8:61778400-61782800	Weak transcription	Spleen	Spleen
39	chr8:61778400-61783600	Weak transcription	HUVEC	blood vessel
40	chr8:61778400-61783800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:61778400-61783800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:61778400-61784200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:61778400-61788600	Weak transcription	Pancreas	Pancrea
44	chr8:61778400-61789600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:61778600-61780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:61778600-61780400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:61778600-61780600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:61778600-61780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:61778600-61780800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:61778600-61781400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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