Variant report

Variant	rs12641693
Chromosome Location	chr4:7283729-7283730
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7212738..7214685-chr4:7282671..7285326,2	MCF-7	breast:
2	chr4:7282916..7284476-chr4:7287220..7289745,2	K562	blood:
3	chr4:7282808..7284476-chr4:7287220..7289819,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12511994	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12647543	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16839925	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv878543	chr4:7282506-7353052	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7278600-7285000	Enhancers	Fetal Brain Male	brain
2	chr4:7278800-7284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:7278800-7292800	Weak transcription	Right Atrium	heart
4	chr4:7279200-7289400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7281000-7284600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:7281200-7284000	Enhancers	HMEC	breast
7	chr4:7281200-7284400	Enhancers	NH-A	brain
8	chr4:7281400-7284200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:7281400-7284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:7281400-7293200	Weak transcription	Ovary	ovary
11	chr4:7281600-7284000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:7282000-7285200	Enhancers	Fetal Brain Female	brain
13	chr4:7282000-7289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:7282200-7283800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:7282200-7284400	Enhancers	Fetal Lung	lung
16	chr4:7282200-7285200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:7282400-7284000	Enhancers	Brain Anterior Caudate	brain
18	chr4:7282400-7284600	Enhancers	Brain Substantia Nigra	brain
19	chr4:7282600-7283800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:7282600-7283800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:7282600-7284000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:7282800-7283800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr4:7282800-7284400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:7283000-7284000	Enhancers	Brain Hippocampus Middle	brain
25	chr4:7283000-7284600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:7283000-7285000	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:7283200-7283800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr4:7283200-7284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:7283200-7284000	Enhancers	NHEK	skin
30	chr4:7283200-7284200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:7283200-7284400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:7283400-7283800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:7283400-7283800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:7283400-7284000	Enhancers	Brain Angular Gyrus	brain
35	chr4:7283400-7284800	Weak transcription	Fetal Stomach	stomach
36	chr4:7283400-7287200	Weak transcription	Brain Germinal Matrix	brain
37	chr4:7283400-7287200	Weak transcription	HSMMtube	muscle
38	chr4:7283400-7297000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:7283600-7283800	Enhancers	Lung	lung
40	chr4:7283600-7284800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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