Variant report

Variant	rs56906975
Chromosome Location	chr8:99207949-99207950
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	chr8:99207817..99209426-chr8:99217584..99220282,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093356	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10093623	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10093678	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10093856	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10095790	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095850	0.84[AFR][1000 genomes]
rs10095887	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100633	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108460	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1109159	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11987536	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677283	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680361	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680980	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542289	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896763	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896768	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896802	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2331809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28485842	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2877460	0.97[ASN][1000 genomes]
rs2877495	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779721	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734388	0.84[ASN][1000 genomes]
rs4734389	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734390	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735535	0.84[ASN][1000 genomes]
rs4735539	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735540	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55908268	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57644890	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60414868	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468620	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7009145	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72680644	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs896417	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891216	chr8:99153160-99209248	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99192200-99210600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:99192200-99214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:99192800-99210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99194800-99216600	Weak transcription	Colonic Mucosa	Colon
6	chr8:99197000-99209200	Weak transcription	HSMMtube	muscle
7	chr8:99197000-99210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:99197000-99219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:99197800-99215400	Weak transcription	Fetal Stomach	stomach
10	chr8:99198000-99210400	Weak transcription	Osteobl	bone
11	chr8:99198000-99217000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:99198200-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:99198200-99239200	Weak transcription	Lung	lung
14	chr8:99201800-99214400	Weak transcription	Left Ventricle	heart
15	chr8:99202000-99215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:99202000-99215200	Weak transcription	NHDF-Ad	bronchial
17	chr8:99203600-99210600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:99204000-99214200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:99204600-99214800	Weak transcription	Gastric	stomach
21	chr8:99205200-99214400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:99205200-99214400	Weak transcription	Fetal Intestine Large	intestine
23	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:99205400-99214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99205600-99214600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:99205600-99220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:99206400-99216600	Weak transcription	Aorta	Aorta
28	chr8:99206600-99213200	Weak transcription	Ovary	ovary
29	chr8:99206600-99224400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:99206600-99239800	Weak transcription	Pancreas	Pancrea
31	chr8:99207200-99208000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:99207200-99208000	Strong transcription	Esophagus	oesophagus
33	chr8:99207400-99208000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:99207400-99208000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:99207400-99208000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:99207600-99208000	Enhancers	H1 Cell Line	embryonic stem cell

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