Variant report

Variant	rs9999545
Chromosome Location	chr4:7279209-7279210
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7277788..7279515-chr4:7289410..7291563,2	MCF-7	breast:
2	chr4:7213111..7215832-chr4:7278141..7280454,2	MCF-7	breast:
3	chr4:7273206..7276167-chr4:7278106..7279736,2	K562	blood:
4	chr4:7278740..7281042-chr4:7284986..7286499,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3846421	0.82[ASN][1000 genomes]
rs3913447	0.82[ASN][1000 genomes]
rs6814319	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6831675	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv878541	chr4:7211197-7341243	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv461200	chr4:7256620-7297506	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv593567	chr4:7256620-7297506	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv461201	chr4:7256620-7311399	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv593568	chr4:7256620-7311399	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7259200-7281000	Weak transcription	Ovary	ovary
2	chr4:7274800-7281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:7277600-7282200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7277600-7282600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:7278000-7280000	Weak transcription	Fetal Thymus	thymus
6	chr4:7278000-7282400	Weak transcription	Brain Anterior Caudate	brain
7	chr4:7278200-7279400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7278200-7282400	Weak transcription	Brain Substantia Nigra	brain
9	chr4:7278400-7280200	Weak transcription	Fetal Brain Female	brain
10	chr4:7278400-7283000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:7278600-7280800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:7278600-7281200	Weak transcription	NH-A	brain
13	chr4:7278600-7283600	Weak transcription	Lung	lung
14	chr4:7278600-7285000	Enhancers	Fetal Brain Male	brain
15	chr4:7278800-7281600	Weak transcription	HSMM	muscle
16	chr4:7278800-7283000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:7278800-7284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7278800-7292800	Weak transcription	Right Atrium	heart
19	chr4:7279000-7280200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr4:7279000-7280800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr4:7279200-7280000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr4:7279200-7289400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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