Variant report

Variant	rs11578942
Chromosome Location	chr1:175044800-175044801
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	chr1:175037717..175040130-chr1:175044107..175046974,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11577778	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11578961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583313	0.81[EUR][1000 genomes]
rs12059398	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12065394	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12068402	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12087791	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16847779	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302688	0.80[EUR][1000 genomes]
rs17374668	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269647	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55808408	0.80[EUR][1000 genomes]
rs56226643	0.86[ASN][1000 genomes]
rs59822966	0.80[EUR][1000 genomes]
rs61541139	0.80[EUR][1000 genomes]
rs6665471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650986	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012861	chr1:175021780-175063160	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv535210	chr1:175021780-175063160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:175039800-175046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:175041800-175044800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:175041800-175045000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:175042400-175050600	Weak transcription	Spleen	Spleen
5	chr1:175043000-175045200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:175043000-175045400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:175043200-175044800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:175043200-175044800	Weak transcription	Dnd41	blood
9	chr1:175043200-175057400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:175043200-175058600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:175043400-175046200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:175043800-175046000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:175044000-175044800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:175044000-175045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:175044200-175045200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:175044200-175046400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:175044200-175049400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:175044400-175045000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:175044600-175045200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:175044800-175045000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:175044800-175045200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:175044800-175045400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:175044800-175045400	Enhancers	Dnd41	blood
24	chr1:175044800-175047000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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