Variant report

Variant	rs4415657
Chromosome Location	chr10:5518886-5518887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5517945..5521861-chr10:5523248..5526011,3	K562	blood:
2	chr10:5518776..5523115-chr10:5547978..5550572,4	K562	blood:
3	chr10:5500141..5502638-chr10:5517731..5519643,2	K562	blood:
4	chr10:5492963..5495931-chr10:5517607..5520678,3	K562	blood:
5	chr10:5503481..5510254-chr10:5517688..5522992,9	K562	blood:
6	chr10:5487463..5491036-chr10:5518537..5522729,6	K562	blood:
7	chr10:5500141..5507073-chr10:5517731..5521775,8	K562	blood:

Variant related genes	Relation type
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10450530	1.00[AMR][1000 genomes]
rs10450531	1.00[AMR][1000 genomes]
rs4242793	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4880730	1.00[AMR][1000 genomes]
rs56724201	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56959063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58833507	1.00[AMR][1000 genomes]
rs59584726	1.00[AMR][1000 genomes]
rs59841593	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60653996	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7904871	1.00[AMR][1000 genomes]
rs7922103	1.00[AMR][1000 genomes]
rs9423432	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894797	chr10:5499173-5558349	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894799	chr10:5511869-5558349	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5509400-5519000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:5511200-5520000	Weak transcription	Stomach Mucosa	stomach
3	chr10:5511400-5527000	Weak transcription	Spleen	Spleen
4	chr10:5512000-5519000	Weak transcription	Esophagus	oesophagus
5	chr10:5512400-5522000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:5514600-5519000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:5517200-5519000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:5517200-5519000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:5517200-5519000	Weak transcription	HSMM	muscle
10	chr10:5517200-5519000	Weak transcription	HSMMtube	muscle
11	chr10:5517200-5523800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:5517400-5519800	Weak transcription	Gastric	stomach
13	chr10:5517600-5520000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:5517600-5520000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr10:5517600-5520200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:5517800-5520000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:5518200-5519600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:5518200-5520000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:5518400-5519200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:5518400-5520400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:5518400-5520600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr10:5518400-5521000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:5518400-5522000	Enhancers	Fetal Muscle Trunk	muscle
24	chr10:5518400-5523600	Enhancers	Placenta	Placenta
25	chr10:5518600-5519000	Flanking Active TSS	K562	blood
26	chr10:5518600-5523400	Enhancers	Fetal Muscle Leg	muscle
27	chr10:5518800-5519400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr10:5518800-5520200	Enhancers	H1 Cell Line	embryonic stem cell

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