Variant report

Variant	rs11987280
Chromosome Location	chr8:67644837-67644838
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	chr8:67642730..67646212-chr8:67685303..67687754,3	MCF-7	breast:
2	chr8:67637111..67639838-chr8:67642285..67645060,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11985572	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987310	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11990461	0.84[EUR][1000 genomes]
rs11990636	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11992069	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11995256	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11995814	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11996861	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11997967	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11998301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12114734	0.88[EUR][1000 genomes]
rs16933034	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16933039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16933057	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16933060	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16933079	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16933080	0.84[EUR][1000 genomes]
rs35517376	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857962	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3913346	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3929419	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4073730	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4613982	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55893527	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56056216	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56215867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56345609	0.88[EUR][1000 genomes]
rs57894537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58434561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58653469	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58991268	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59226286	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59469156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60741740	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60773515	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61080934	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61085456	0.81[EUR][1000 genomes]
rs6472285	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6472289	0.84[EUR][1000 genomes]
rs6651278	0.84[EUR][1000 genomes]
rs6981761	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6982137	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983632	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6984447	0.84[EUR][1000 genomes]
rs6984650	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6985273	0.84[EUR][1000 genomes]
rs6998252	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6998777	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002479	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7015619	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017471	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691557	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691562	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691565	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691571	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691572	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691578	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691579	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691582	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691586	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73691595	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73693631	0.84[EUR][1000 genomes]
rs73693632	0.84[EUR][1000 genomes]
rs7815142	0.84[EUR][1000 genomes]
rs7820403	0.84[EUR][1000 genomes]
rs9918866	0.94[AMR][1000 genomes]
rs9918869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67625800-67650600	Weak transcription	Aorta	Aorta
2	chr8:67626200-67651200	Weak transcription	Right Ventricle	heart
3	chr8:67626200-67657600	Weak transcription	Lung	lung
4	chr8:67626200-67664400	Weak transcription	Ovary	ovary
5	chr8:67626200-67665200	Weak transcription	Fetal Stomach	stomach
6	chr8:67626800-67660600	Weak transcription	HSMMtube	muscle
7	chr8:67627200-67650400	Weak transcription	Adipose Nuclei	Adipose
8	chr8:67627200-67660200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:67627200-67665600	Weak transcription	Left Ventricle	heart
10	chr8:67627400-67649600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:67628800-67651200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:67629000-67650600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:67632600-67650600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:67632600-67662400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:67633600-67659600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:67633800-67645200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:67638600-67650200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:67638600-67659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:67638600-67660800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:67638800-67647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:67638800-67648200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:67639000-67659600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:67639600-67664400	Weak transcription	Thymus	Thymus
24	chr8:67639800-67653400	Weak transcription	Colonic Mucosa	Colon
25	chr8:67640000-67645200	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:67640400-67645200	Weak transcription	Brain Substantia Nigra	brain
27	chr8:67641000-67645200	Weak transcription	Brain Anterior Caudate	brain
28	chr8:67641000-67659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:67641200-67647000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:67641200-67647200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:67641200-67649800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:67641200-67650200	Weak transcription	Liver	Liver
33	chr8:67641200-67666200	Weak transcription	Pancreas	Pancrea
34	chr8:67642400-67646800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:67642400-67649400	Weak transcription	Fetal Intestine Small	intestine
36	chr8:67642400-67649600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:67642600-67650000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:67643000-67652800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:67643200-67647400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:67644000-67647800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:67644600-67648400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:67644600-67649200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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