Variant report

Variant	rs301746
Chromosome Location	chr1:216356638-216356639
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	chr1:216356578..216358271-chr1:216360791..216362498,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs301748	1.00[AFR][1000 genomes]
rs301749	1.00[AFR][1000 genomes]
rs301751	1.00[AFR][1000 genomes]
rs3106400	1.00[AFR][1000 genomes]
rs400358	1.00[AFR][1000 genomes]
rs414373	1.00[AFR][1000 genomes]
rs419767	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs440416	1.00[AFR][1000 genomes]
rs619629	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs619803	1.00[AFR][1000 genomes]
rs624102	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs669825	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[EUR][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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216355600-216356800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:216355600-216360400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:216355800-216357800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:216356000-216357200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:216356000-216357200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:216356000-216357800	Enhancers	NHDF-Ad	bronchial
7	chr1:216356000-216358600	Enhancers	Brain Germinal Matrix	brain
8	chr1:216356000-216359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:216356000-216360000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:216356200-216356800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:216356200-216357000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:216356200-216357000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:216356200-216357000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:216356200-216357000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:216356200-216357600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:216356200-216357600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:216356200-216357800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:216356200-216357800	Bivalent Enhancer	Fetal Brain Male	brain
19	chr1:216356200-216358400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:216356200-216358400	Enhancers	Fetal Lung	lung
21	chr1:216356200-216358600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:216356200-216358600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:216356200-216360000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:216356400-216356800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:216356400-216357000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:216356400-216357000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:216356400-216357800	Enhancers	Fetal Stomach	stomach
28	chr1:216356400-216358400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:216356600-216357000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:216356600-216357000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:216356600-216357000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:216356600-216357000	Enhancers	Fetal Brain Female	brain
33	chr1:216356600-216357000	Flanking Active TSS	NH-A	brain
34	chr1:216356600-216357200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:216356600-216357200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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