Variant report

Variant	rs4728100
Chromosome Location	chr7:127914342-127914343
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127904719..127907054-chr7:127912432..127915096,2	K562	blood:
2	chr7:127907822..127910033-chr7:127912137..127914514,2	K562	blood:
3	chr7:127910354..127914440-chr7:127916901..127919443,4	K562	blood:
4	chr7:127913502..127915007-chr7:127983264..127985106,2	K562	blood:
5	chr7:127913044..127915335-chr7:127992240..127993797,2	K562	blood:

Variant related genes	Relation type
ENSG00000238750	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000272915	Chromatin interaction

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

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

rs_ID	r²[population]
rs17152005	1.00[MEX][hapmap]
rs2278814	1.00[EUR][1000 genomes]
rs28954114	1.00[EUR][1000 genomes]
rs28954373	1.00[EUR][1000 genomes]
rs359662	1.00[MEX][hapmap]
rs6948206	1.00[EUR][1000 genomes]
rs72550733	1.00[EUR][1000 genomes]
rs72550734	1.00[EUR][1000 genomes]
rs72563752	1.00[EUR][1000 genomes]
rs72563765	1.00[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	esv3443374	chr7:127913957-127914359	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127908400-127921800	Weak transcription	HSMM	muscle
2	chr7:127911800-127915600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:127912000-127915200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:127912200-127914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:127912200-127914600	Weak transcription	Liver	Liver
6	chr7:127912200-127915800	Weak transcription	Spleen	Spleen
7	chr7:127912200-127921600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:127912200-127925200	Weak transcription	Ovary	ovary
9	chr7:127912400-127914400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:127912400-127921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:127912400-127921600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:127912600-127914600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:127912600-127914800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:127912600-127914800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:127912600-127915600	Weak transcription	Right Atrium	heart
16	chr7:127912800-127914400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:127913800-127914600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:127914200-127914400	Enhancers	HepG2	liver
19	chr7:127914200-127914800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:127914200-127914800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr7:127914200-127914800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:127914200-127915000	Bivalent Enhancer	Fetal Intestine Large	intestine

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