Variant report

Variant	rs41530448
Chromosome Location	chr7:83594123-83594124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83593569..83594454-chr8:49288164..49289039,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17158354	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158408	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158435	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158437	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801590	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681101	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079403	0.82[EUR][1000 genomes]
rs57671541	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180153	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180162	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180163	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180176	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180180	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs740947	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802100	0.86[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv607707	chr7:83381032-83646816	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv888622	chr7:83526743-83631376	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83585600-83597800	Weak transcription	Gastric	stomach
2	chr7:83588200-83605200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:83588800-83599400	Weak transcription	Fetal Brain Male	brain
4	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:83589000-83605000	Weak transcription	Hela-S3	cervix
6	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
7	chr7:83589200-83616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:83589400-83605200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:83591000-83599200	Weak transcription	Fetal Brain Female	brain
10	chr7:83591000-83624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:83591200-83596000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:83591200-83599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:83591200-83599600	Weak transcription	Fetal Kidney	kidney
15	chr7:83591200-83607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:83591200-83614400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:83591200-83615800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:83591800-83604600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:83591800-83624600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:83592600-83599400	Weak transcription	Fetal Lung	lung
24	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:83592800-83602000	Weak transcription	NHDF-Ad	bronchial
26	chr7:83592800-83603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:83593000-83596600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:83593400-83596600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:83593800-83596400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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