Variant report

Variant	rs41280784
Chromosome Location	chr1:10075912-10075913
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	chr1:10071470..10073118-chr1:10073579..10076268,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41280804	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10061600-10077000	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:10061800-10077200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:10071200-10076400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr1:10072800-10080200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:10073200-10076400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:10073600-10076400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:10074000-10076400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:10074400-10078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:10074600-10092400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:10075000-10076800	Enhancers	Fetal Heart	heart
11	chr1:10075600-10076000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:10075600-10076000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:10075600-10076000	Enhancers	Adipose Nuclei	Adipose
14	chr1:10075600-10076000	Enhancers	Fetal Kidney	kidney
15	chr1:10075600-10076200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:10075600-10076200	Enhancers	Ovary	ovary
17	chr1:10075600-10076200	Enhancers	HSMMtube	muscle
18	chr1:10075600-10076400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:10075600-10076400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:10075600-10076400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:10075600-10076400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:10075600-10076400	Enhancers	Left Ventricle	heart
23	chr1:10075600-10076400	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:10075800-10076000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:10075800-10076000	Enhancers	Osteobl	bone
26	chr1:10075800-10076200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:10075800-10076200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:10075800-10076200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:10075800-10076200	Enhancers	K562	blood
30	chr1:10075800-10076400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:10075800-10076400	Enhancers	Fetal Muscle Leg	muscle

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