Variant report

Variant	rs4948698
Chromosome Location	chr10:43539459-43539460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43359656..43362276-chr10:43538559..43540315,2	MCF-7	breast:
2	chr10:43531524..43548583-chr10:43564333..43580527,54	MCF-7	breast:
3	chr10:43539137..43541120-chr10:43541349..43544216,2	K562	blood:
4	chr10:43538130..43541758-chr10:43570526..43575204,4	MCF-7	breast:
5	chr10:43537183..43538884-chr10:43539008..43541736,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165731	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11239867	0.90[MKK][hapmap]
rs1271547	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1547930	0.85[JPT][hapmap]
rs2282443	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2914988	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3004257	1.00[ASW][hapmap];0.81[CEU][hapmap];0.88[JPT][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3004259	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3004260	0.89[JPT][hapmap]
rs3004261	0.89[JPT][hapmap]
rs61843193	0.98[ASN][1000 genomes]
rs873300	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	nsv895080	chr10:43471575-43558757	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43535200-43540400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:43537000-43539800	Enhancers	Right Ventricle	heart
3	chr10:43538200-43540800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr10:43538400-43540200	Enhancers	Spleen	Spleen
5	chr10:43538600-43540800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr10:43538600-43542400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:43538800-43539800	Weak transcription	Lung	lung
8	chr10:43538800-43540400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:43538800-43540600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:43539000-43539800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr10:43539000-43540000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:43539000-43540000	Enhancers	Primary B cells from cord blood	blood
13	chr10:43539000-43541000	Enhancers	Fetal Intestine Large	intestine
14	chr10:43539200-43540400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:43539200-43540600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:43539200-43540600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:43539200-43540800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:43539400-43540200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:43539400-43540200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr10:43539400-43540200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:43539400-43540200	Enhancers	Placenta	Placenta
22	chr10:43539400-43540400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:43539400-43540400	Enhancers	Fetal Thymus	thymus
24	chr10:43539400-43540600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:43539400-43540600	Enhancers	Duodenum Mucosa	Duodenum
26	chr10:43539400-43540800	Enhancers	Fetal Intestine Small	intestine

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