Variant report

Variant	rs7543315
Chromosome Location	chr1:44949350-44949351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44942111..44945407-chr1:44946739..44951751,4	K562	blood:
2	chr1:44911243..44913020-chr1:44948878..44951824,2	K562	blood:
3	chr1:44941606..44943611-chr1:44949002..44951401,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10890301	1.00[EUR][1000 genomes]
rs12072574	1.00[EUR][1000 genomes]
rs57689520	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72895533	1.00[EUR][1000 genomes]
rs7515016	1.00[EUR][1000 genomes]
rs7545656	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7549585	1.00[EUR][1000 genomes]
rs7550326	1.00[EUR][1000 genomes]
rs9943206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
5	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers 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 miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44938800-44949400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:44938800-44949600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:44943400-44949600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:44943400-44949600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:44943400-44949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:44946400-44951600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:44946600-44949600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:44946800-44951600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:44947400-44949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:44947400-44951600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:44947800-44949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:44947800-44949800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:44948000-44951200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:44948600-44952800	Enhancers	Brain Angular Gyrus	brain
15	chr1:44948800-44952000	Enhancers	Brain Anterior Caudate	brain
16	chr1:44948800-44952600	Enhancers	HSMMtube	muscle
17	chr1:44949000-44949400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:44949000-44950600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:44949000-44953000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:44949200-44952000	Enhancers	Fetal Heart	heart
21	chr1:44949200-44952400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:44949200-44952600	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:44949200-44952600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:44949200-44952600	Enhancers	Brain Substantia Nigra	brain

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