Variant report

Variant	rs1013575
Chromosome Location	chr7:40868865-40868866
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1013576	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486815	1.00[EUR][1000 genomes]
rs11981180	1.00[EUR][1000 genomes]
rs12531154	1.00[EUR][1000 genomes]
rs12531482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12532716	1.00[EUR][1000 genomes]
rs12532916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12534713	1.00[EUR][1000 genomes]
rs12534734	1.00[EUR][1000 genomes]
rs12538260	1.00[EUR][1000 genomes]
rs12538963	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12539159	1.00[EUR][1000 genomes]
rs12540647	1.00[EUR][1000 genomes]
rs12540736	1.00[EUR][1000 genomes]
rs12540807	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	1.00[EUR][1000 genomes]
rs17171781	1.00[EUR][1000 genomes]
rs17171782	1.00[EUR][1000 genomes]
rs17714132	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17714215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17714523	1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17770820	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1921751	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1990190	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2079507	0.83[AMR][1000 genomes]
rs2302027	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35105954	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4720372	1.00[EUR][1000 genomes]
rs4720374	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4720375	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4720376	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4720382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4720383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4723975	1.00[EUR][1000 genomes]
rs4723981	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs723837	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7781779	1.00[EUR][1000 genomes]
rs7794957	1.00[EUR][1000 genomes]

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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1827128	chr7:40862370-40886576	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	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	chr7:40864000-40869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:40864000-40869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:40864000-40871000	Enhancers	NHDF-Ad	bronchial
4	chr7:40867000-40872400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:40867200-40869200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:40867200-40870000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:40867400-40871400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:40867400-40872200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:40867400-40872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:40867600-40869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:40867600-40869600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:40867600-40869800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:40867600-40869800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:40867600-40872600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:40867600-40872600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:40867600-40873000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:40867600-40882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:40867800-40873000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:40867800-40875800	Weak transcription	NHEK	skin
20	chr7:40867800-40877200	Weak transcription	HSMM	muscle
21	chr7:40868000-40869600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:40868000-40870800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:40868000-40871000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:40868000-40871600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:40868000-40873400	Weak transcription	Aorta	Aorta
26	chr7:40868400-40872600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:40868600-40871200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:40868600-40872400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:40868600-40872600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:40868800-40869000	Enhancers	Fetal Heart	heart
31	chr7:40868800-40869000	Enhancers	Fetal Stomach	stomach
32	chr7:40868800-40869200	Strong transcription	HMEC	breast
33	chr7:40868800-40879400	Weak transcription	HSMMtube	muscle

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