Variant report

Variant	rs57656984
Chromosome Location	chr7:100762578-100762579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100754972..100758673-chr7:100760651..100765191,4	K562	blood:
2	chr7:100761869..100763568-chr7:100766279..100768842,3	K562	blood:
3	chr7:100755889..100757654-chr7:100761288..100763415,3	K562	blood:
4	chr7:100748557..100751885-chr7:100761807..100763776,3	MCF-7	breast:
5	chr7:100733241..100735630-chr7:100761919..100764639,2	K562	blood:
6	chr7:100752460..100757093-chr7:100759104..100763544,6	MCF-7	breast:
7	chr7:100751228..100753347-chr7:100760665..100763411,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11770414	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11772356	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12667943	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13232139	0.81[ASN][1000 genomes]
rs28651567	0.82[ASN][1000 genomes]
rs4422700	0.81[ASN][1000 genomes]
rs55996000	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73178512	0.85[ASN][1000 genomes]
rs73178519	0.84[ASN][1000 genomes]
rs7786422	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100752400-100764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:100752600-100765400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:100755000-100764800	Weak transcription	Psoas Muscle	Psoas
4	chr7:100755600-100763200	Weak transcription	Lung	lung
5	chr7:100756000-100763200	Weak transcription	Spleen	Spleen
6	chr7:100757000-100765400	Enhancers	HUVEC	blood vessel
7	chr7:100757600-100770400	Enhancers	Placenta	Placenta
8	chr7:100759600-100765400	Enhancers	NHDF-Ad	bronchial
9	chr7:100759800-100764000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:100759800-100765400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:100759800-100765400	Enhancers	Osteobl	bone
12	chr7:100760200-100762600	Enhancers	Hela-S3	cervix
13	chr7:100760200-100763400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:100760200-100763800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:100760200-100765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:100760200-100765400	Enhancers	NH-A	brain
17	chr7:100760400-100763000	Enhancers	NHEK	skin
18	chr7:100760400-100763600	Enhancers	Fetal Stomach	stomach
19	chr7:100760400-100763600	Enhancers	Stomach Smooth Muscle	stomach
20	chr7:100760400-100765200	Enhancers	Ovary	ovary
21	chr7:100760400-100765400	Enhancers	Fetal Muscle Leg	muscle
22	chr7:100760400-100765400	Enhancers	NHLF	lung
23	chr7:100760800-100763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:100760800-100763000	Weak transcription	HSMM	muscle
25	chr7:100760800-100765200	Enhancers	A549	lung
26	chr7:100760800-100765400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:100761000-100763000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:100761000-100763000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:100761000-100763000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:100761000-100763200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:100761000-100763200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:100761000-100764600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:100761000-100764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:100761000-100764800	Weak transcription	Stomach Mucosa	stomach
35	chr7:100761000-100765200	Weak transcription	K562	blood
36	chr7:100761200-100763000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:100761200-100763000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:100761200-100764600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:100761400-100765400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:100761800-100763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:100761800-100763000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:100761800-100763400	Weak transcription	Fetal Heart	heart
43	chr7:100761800-100765400	Weak transcription	Fetal Lung	lung
44	chr7:100761800-100770400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:100762000-100763000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:100762000-100763000	Weak transcription	HMEC	breast
47	chr7:100762000-100763000	Weak transcription	HSMMtube	muscle
48	chr7:100762000-100765200	Weak transcription	Right Atrium	heart
49	chr7:100762000-100765600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:100762200-100763200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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