Variant report

Variant	rs7515010
Chromosome Location	chr1:221869492-221869493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221863041..221865443-chr1:221867835..221870529,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11118831	0.87[ASN][1000 genomes]
rs12037804	1.00[JPT][hapmap]
rs1338076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17010612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280340	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4537559	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61820076	0.80[ASN][1000 genomes]
rs6604664	1.00[ASN][1000 genomes]
rs6604665	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670514	0.81[CEU][hapmap]
rs7550105	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221861600-221875600	Weak transcription	Aorta	Aorta
2	chr1:221861800-221875200	Weak transcription	Left Ventricle	heart
3	chr1:221862400-221878600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:221863000-221875000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:221863200-221871800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:221864600-221871400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:221867000-221872000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:221867200-221870000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:221867400-221870800	Weak transcription	Liver	Liver
11	chr1:221867600-221874000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:221867600-221874000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:221867800-221870200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:221867800-221871400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:221868000-221871000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:221868000-221871200	Enhancers	HSMM	muscle
17	chr1:221868200-221870200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:221868200-221870200	Enhancers	Osteobl	bone
19	chr1:221868400-221870000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:221868600-221869800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:221868600-221870400	Enhancers	NHDF-Ad	bronchial
22	chr1:221868800-221870000	Enhancers	NHLF	lung
23	chr1:221868800-221872800	Weak transcription	HSMMtube	muscle
24	chr1:221869000-221870000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:221869200-221869800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:221869400-221869800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:221869400-221870000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:221869400-221870000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:221869400-221870000	Enhancers	HMEC	breast
30	chr1:221869400-221870200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:221869400-221872800	Weak transcription	NH-A	brain
32	chr1:221869400-221875800	Weak transcription	Rectal Smooth Muscle	rectum

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