Variant report

Variant	rs4838409
Chromosome Location	chr10:49693276-49693277
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49607370..49610119-chr10:49691566..49693350,2	K562	blood:
2	chr10:49692340..49695073-chr10:49708069..49710836,2	K562	blood:
3	chr10:49692019..49695584-chr10:49695676..49700242,5	K562	blood:
4	chr10:49692001..49694152-chr10:49695095..49697176,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1073498	0.93[AFR][1000 genomes]
rs10857581	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1373787	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1445156	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1445157	0.83[AMR][1000 genomes]
rs1814472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1822858	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1822859	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2120903	0.83[AMR][1000 genomes]
rs3954045	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4644607	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7081715	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7085609	0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679800-49704200	Weak transcription	NH-A	brain
2	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
3	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
6	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:49687400-49694800	Weak transcription	HSMM	muscle
8	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
9	chr10:49687800-49699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:49688600-49693800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:49688800-49699400	Weak transcription	Osteobl	bone
12	chr10:49689200-49698200	Weak transcription	NHLF	lung
13	chr10:49689200-49701400	Weak transcription	Right Atrium	heart
14	chr10:49689400-49694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:49689400-49695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:49689400-49699000	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:49689400-49701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:49689600-49695200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:49690600-49693600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:49692000-49693600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:49692200-49694800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:49692400-49693600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr10:49692600-49693400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr10:49692600-49694200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:49692600-49696200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:49692800-49693600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:49692800-49693600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:49692800-49693600	Enhancers	Liver	Liver
29	chr10:49692800-49693600	Enhancers	HepG2	liver
30	chr10:49692800-49693600	Flanking Active TSS	K562	blood
31	chr10:49693000-49693600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr10:49693000-49701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:49693200-49693400	Enhancers	Primary hematopoietic stem cells	blood

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