Variant report

Variant	rs7805601
Chromosome Location	chr7:47711988-47711989
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	chr7:47698031..47700145-chr7:47710791..47713137,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12112624	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12532470	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12702364	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34214382	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34515001	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34760316	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34794350	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34910778	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67747550	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975137	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73105211	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73105213	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73105228	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1024027	chr7:47709936-47743485	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47706000-47721600	Enhancers	Placenta	Placenta
2	chr7:47707400-47713000	Weak transcription	Fetal Intestine Large	intestine
3	chr7:47707600-47714400	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:47709400-47712000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:47709600-47717000	Weak transcription	HMEC	breast
6	chr7:47709800-47712000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:47709800-47712000	Weak transcription	NHEK	skin
8	chr7:47709800-47713200	Enhancers	Primary B cells from cord blood	blood
9	chr7:47710000-47712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:47710200-47712000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:47710200-47712000	Weak transcription	NH-A	brain
12	chr7:47710400-47713000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:47710400-47713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:47710400-47713400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:47710600-47712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:47710600-47713000	Weak transcription	Fetal Intestine Small	intestine
17	chr7:47710600-47716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:47710800-47712400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:47711000-47712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:47711000-47712000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:47711000-47712000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:47711000-47712200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:47711000-47712400	Enhancers	GM12878-XiMat	blood
24	chr7:47711000-47717800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:47711000-47718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:47711200-47714200	Weak transcription	Spleen	Spleen
27	chr7:47711600-47712200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:47711600-47712600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:47711600-47713000	Enhancers	Hela-S3	cervix
30	chr7:47711800-47712400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:47711800-47712800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr7:47711800-47712800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:47711800-47713000	Enhancers	A549	lung
34	chr7:47711800-47713200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:47711800-47713200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:47711800-47713200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:47711800-47713200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:47711800-47715400	Enhancers	HepG2	liver
39	chr7:47711800-47716800	Weak transcription	Monocytes-CD14+_RO01746	blood

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