Variant report

Variant	rs7804281
Chromosome Location	chr7:127805155-127805156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127804591..127807479-chr7:127875712..127877601,2	K562	blood:
2	chr7:127803231..127805511-chr7:127810379..127811917,2	MCF-7	breast:
3	chr7:127795407..127797844-chr7:127804124..127806542,3	MCF-7	breast:
4	chr7:127799897..127802659-chr7:127804825..127806354,2	K562	blood:
5	chr7:127799537..127801607-chr7:127803464..127805695,2	K562	blood:
6	chr7:127805090..127809170-chr7:127810830..127813761,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10215103	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537834	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12706827	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs322723	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322725	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs322728	0.90[EUR][1000 genomes]
rs4728089	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731406	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467164	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs896182	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	esv989073	chr7:127800713-127812327	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127803000-127806600	Enhancers	HMEC	breast
2	chr7:127803200-127806000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127803600-127805200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
4	chr7:127803600-127805400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:127803600-127805400	Enhancers	NH-A	brain
6	chr7:127803600-127805800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr7:127803600-127805800	Enhancers	Hela-S3	cervix
8	chr7:127803600-127806000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:127803600-127806400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:127803800-127805200	Enhancers	Osteobl	bone
11	chr7:127803800-127805400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:127803800-127805400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:127803800-127805600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:127803800-127805600	Enhancers	HSMM	muscle
15	chr7:127803800-127806200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr7:127803800-127806200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr7:127803800-127806400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr7:127804000-127805200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr7:127804000-127805200	Enhancers	NHDF-Ad	bronchial
20	chr7:127804000-127805400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:127804000-127805400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:127804000-127805800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:127804200-127805400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:127804200-127805400	Enhancers	A549	lung
25	chr7:127804200-127805800	Enhancers	HSMMtube	muscle
26	chr7:127804400-127805200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:127804400-127805200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:127804600-127806200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:127804600-127806400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:127804800-127806200	Weak transcription	Pancreas	Pancrea
31	chr7:127805000-127805200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:127805000-127805800	Enhancers	NHEK	skin
33	chr7:127805000-127806400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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