Variant report

Variant	rs4639826
Chromosome Location	chr1:212812874-212812875
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	chr1:212808458..212810460-chr1:212812448..212814204,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2251502	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2456826	1.00[CHB][hapmap]
rs2501839	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2501843	1.00[CHB][hapmap]
rs3122715	0.92[ASN][1000 genomes]
rs3122717	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs3122718	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7513802	1.00[EUR][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212802600-212822800	Weak transcription	Fetal Kidney	kidney
2	chr1:212808200-212813000	Enhancers	Fetal Heart	heart
3	chr1:212808200-212813000	Enhancers	Fetal Thymus	thymus
4	chr1:212808600-212813000	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:212810600-212813200	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:212810800-212813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:212810800-212813000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:212810800-212813000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:212810800-212813600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:212810800-212813800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:212811000-212816800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:212811600-212813400	Weak transcription	GM12878-XiMat	blood
13	chr1:212811800-212813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:212811800-212813000	Enhancers	Fetal Muscle Leg	muscle
15	chr1:212811800-212813000	Enhancers	Left Ventricle	heart
16	chr1:212811800-212813000	Enhancers	Right Atrium	heart
17	chr1:212812000-212814000	Enhancers	NHLF	lung
18	chr1:212812400-212813000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:212812400-212813200	Enhancers	NHDF-Ad	bronchial
20	chr1:212812400-212821800	Weak transcription	Fetal Lung	lung
21	chr1:212812600-212813000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:212812600-212813000	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:212812800-212813600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:212812800-212817400	Weak transcription	Thymus	Thymus
25	chr1:212812800-212819200	Weak transcription	Lung	lung

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