Variant report

Variant	rs11997933
Chromosome Location	chr8:102943184-102943185
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	chr8:102942428..102944500-chr8:102955135..102957986,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11986985	1.00[EUR][1000 genomes]
rs11996557	1.00[CHD][hapmap]
rs16868730	1.00[CHD][hapmap]
rs16868739	1.00[CHD][hapmap]
rs56731949	0.86[EUR][1000 genomes]
rs58133251	0.86[EUR][1000 genomes]
rs58912743	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60240355	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60942694	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290537	0.86[EUR][1000 genomes]
rs73696579	0.87[AFR][1000 genomes]
rs73696581	0.85[AFR][1000 genomes]
rs73696582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73696584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839949	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102920600-102956600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102939000-102944200	Weak transcription	Esophagus	oesophagus
3	chr8:102939800-102944200	Weak transcription	Lung	lung
4	chr8:102942600-102943200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:102942600-102943400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:102942600-102943400	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:102942600-102943600	Enhancers	NH-A	brain
8	chr8:102942600-102943800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:102942600-102944400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:102942600-102944400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:102942600-102944600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:102942600-102944600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:102942600-102944600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:102942600-102944600	Enhancers	Ovary	ovary
15	chr8:102942600-102944600	Enhancers	Psoas Muscle	Psoas
16	chr8:102942600-102944600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:102942600-102944800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:102942800-102943200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:102942800-102943400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:102942800-102943400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:102942800-102943400	Enhancers	Right Atrium	heart
22	chr8:102942800-102943400	Enhancers	Right Ventricle	heart
23	chr8:102942800-102943600	Enhancers	K562	blood
24	chr8:102942800-102943800	Enhancers	Aorta	Aorta
25	chr8:102942800-102944400	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:102942800-102944600	Enhancers	Left Ventricle	heart
27	chr8:102942800-102947200	Enhancers	Fetal Heart	heart
28	chr8:102943000-102943200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:102943000-102943200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:102943000-102943400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:102943000-102944000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:102943000-102944400	Enhancers	Fetal Brain Female	brain

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