Variant report

Variant	rs11750272
Chromosome Location	chr5:61948934-61948935
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	chr5:61944121..61945939-chr5:61947041..61949118,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10514936	0.82[ASW][hapmap]
rs16890854	1.00[ASW][hapmap]
rs17382964	0.82[ASW][hapmap];0.89[LWK][hapmap]
rs17383748	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs17385157	0.93[AFR][1000 genomes]
rs2216707	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2885582	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776633	0.82[ASW][hapmap];0.89[LWK][hapmap]

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	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv948334	chr5:61891622-62197219	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv4858	chr5:61922306-61966961	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61924200-61949200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:61924200-61950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:61925800-61949200	Weak transcription	Left Ventricle	heart
4	chr5:61933200-61949400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:61944600-61949000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:61944600-61949200	Weak transcription	Right Atrium	heart
7	chr5:61944800-61949000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:61945200-61949200	Weak transcription	Spleen	Spleen
9	chr5:61945800-61949000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:61946000-61949000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:61946200-61951400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:61946400-61949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:61946400-61949400	Weak transcription	Fetal Thymus	thymus
14	chr5:61946600-61950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:61948600-61949000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:61948600-61949200	Enhancers	HepG2	liver
17	chr5:61948600-61949400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:61948800-61949200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:61948800-61949200	Enhancers	Placenta	Placenta
20	chr5:61948800-61949200	Enhancers	HUVEC	blood vessel
21	chr5:61948800-61949800	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:61948800-61950600	Enhancers	Dnd41	blood

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