Variant report

Variant	rs7413419
Chromosome Location	chr1:62760960-62760961
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62759279..62761889-chr1:62763662..62766108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201153	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12037499	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12724349	0.81[AFR][1000 genomes]
rs2765265	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2765267	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850631	0.82[EUR][1000 genomes]
rs6663943	0.80[EUR][1000 genomes]
rs7413420	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs882334	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	nsv431712	chr1:62759369-62766001	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62753200-62761600	Weak transcription	Pancreas	Pancrea
2	chr1:62753200-62761600	Weak transcription	Right Atrium	heart
3	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:62754800-62765200	Weak transcription	Fetal Heart	heart
5	chr1:62755600-62761000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:62756200-62765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:62756400-62764800	Weak transcription	HepG2	liver
8	chr1:62759800-62761800	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:62759800-62765400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:62759800-62770800	Enhancers	Fetal Muscle Leg	muscle
11	chr1:62760000-62761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:62760000-62761200	Weak transcription	HSMMtube	muscle
13	chr1:62760000-62761600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:62760000-62762400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:62760200-62761000	Weak transcription	Fetal Stomach	stomach
16	chr1:62760200-62761200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:62760200-62761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:62760200-62761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:62760200-62761600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:62760200-62761600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:62760400-62761200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:62760400-62761200	Weak transcription	Placenta	Placenta
23	chr1:62760400-62762000	Enhancers	Brain Angular Gyrus	brain
24	chr1:62760400-62762400	Enhancers	Primary T cells from cord blood	blood
25	chr1:62760400-62762400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:62760600-62761000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:62760600-62761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:62760600-62761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:62760600-62761400	Weak transcription	Fetal Thymus	thymus
30	chr1:62760600-62761600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:62760800-62761200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:62760800-62761200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:62760800-62761600	Enhancers	HMEC	breast
34	chr1:62760800-62761800	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:62760800-62762400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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