Variant report

Variant	rs4457269
Chromosome Location	chr7:102559226-102559227
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102556325..102558865-chr7:102559053..102562636,3	K562	blood:
2	chr7:102558852..102560445-chr7:102565710..102568123,2	K562	blood:
3	chr7:102556611..102558865-chr7:102559053..102561670,2	K562	blood:
4	chr7:102552431..102554156-chr7:102558067..102560238,3	K562	blood:

Variant related genes	Relation type
ENSG00000128606	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12668311	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12670723	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12673840	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17136122	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28817087	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3800939	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59099783	0.80[AMR][1000 genomes]
rs6465884	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6942688	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6963884	0.90[EUR][1000 genomes]
rs6969209	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7798381	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:102554800-102566200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:102555600-102566400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:102555600-102566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:102555800-102559600	Enhancers	Fetal Stomach	stomach
6	chr7:102556800-102559400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:102556800-102559600	Strong transcription	K562	blood
8	chr7:102556800-102559800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:102556800-102559800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:102558000-102559800	Genic enhancers	NH-A	brain
11	chr7:102558000-102566400	Weak transcription	HUVEC	blood vessel
12	chr7:102558000-102567200	Weak transcription	Fetal Kidney	kidney
13	chr7:102558200-102559400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:102558200-102560600	Enhancers	HSMMtube	muscle
15	chr7:102558200-102566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:102558200-102567600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:102558400-102559400	Weak transcription	Aorta	Aorta
18	chr7:102558400-102559400	Weak transcription	Osteobl	bone
19	chr7:102558400-102559800	Enhancers	Ovary	ovary
20	chr7:102558400-102560000	Genic enhancers	HSMM	muscle
21	chr7:102558400-102566400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:102558600-102566400	Weak transcription	Fetal Heart	heart
23	chr7:102559000-102559400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:102559000-102559400	Genic enhancers	Fetal Lung	lung
25	chr7:102559000-102559600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:102559000-102559600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:102559000-102559600	Enhancers	Fetal Muscle Leg	muscle
28	chr7:102559000-102559800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:102559000-102559800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:102559200-102559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:102559200-102559400	Weak transcription	Psoas Muscle	Psoas

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