Variant report

Variant	rs7944254
Chromosome Location	chr11:8105454-8105455
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	chr11:8099105..8101607-chr11:8105342..8108244,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4385931	0.92[ASN][1000 genomes]
rs7944370	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS 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
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8103000-8105600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:8103000-8108200	Enhancers	Fetal Heart	heart
3	chr11:8103200-8105800	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr11:8103400-8105800	Flanking Active TSS	Fetal Brain Female	brain
5	chr11:8103600-8105600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:8103600-8107200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:8103600-8109000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:8103600-8109000	Enhancers	Left Ventricle	heart
9	chr11:8103600-8109600	Enhancers	Right Atrium	heart
10	chr11:8103600-8109600	Enhancers	Right Ventricle	heart
11	chr11:8103600-8115600	Weak transcription	Aorta	Aorta
12	chr11:8103800-8105600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:8103800-8105800	Enhancers	HepG2	liver
14	chr11:8103800-8106800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:8103800-8108400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:8103800-8119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:8104000-8105600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:8104000-8105800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:8104000-8105800	Enhancers	Fetal Lung	lung
20	chr11:8104000-8111400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:8104200-8105600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:8104200-8105600	Genic enhancers	Fetal Stomach	stomach
23	chr11:8104200-8105800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:8104200-8106600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:8104200-8120000	Weak transcription	HSMM	muscle
26	chr11:8104400-8105600	Bivalent Enhancer	Brain Substantia Nigra	brain
27	chr11:8104400-8105800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:8104400-8106600	Weak transcription	Spleen	Spleen
29	chr11:8104400-8108800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:8104400-8109800	Enhancers	Fetal Muscle Leg	muscle
31	chr11:8104400-8114000	Weak transcription	Osteobl	bone
32	chr11:8104600-8105600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:8104600-8105600	Enhancers	Adipose Nuclei	Adipose
34	chr11:8104600-8105800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:8104600-8106800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:8104600-8107800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:8104600-8108200	Enhancers	Fetal Brain Male	brain
38	chr11:8104600-8108800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:8104600-8109400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:8104600-8114000	Weak transcription	NHDF-Ad	bronchial
41	chr11:8104800-8105600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:8104800-8107000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr11:8104800-8112800	Weak transcription	A549	lung
44	chr11:8104800-8114200	Weak transcription	Esophagus	oesophagus
45	chr11:8105000-8105600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:8105000-8105800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:8105000-8105800	Enhancers	Stomach Smooth Muscle	stomach
48	chr11:8105000-8108400	Enhancers	HSMMtube	muscle
49	chr11:8105000-8108600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:8105000-8109000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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