Variant report

Variant	rs62027227
Chromosome Location	chr15:75947141-75947142
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	chr15:75814655..75817634-chr15:75945344..75947513,2	K562	blood:

Variant related genes	Relation type
ENSG00000169410	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11632887	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11637785	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11638663	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11856001	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62027229	0.80[EUR][1000 genomes]
rs62027230	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62027233	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers 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 miRNA target site	161 gene(s)	inside rSNPs	diseases
6	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
7	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
10	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
12	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv984485	chr15:75932760-75965433	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75941800-75947200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:75941800-75953200	Weak transcription	Fetal Brain Female	brain
3	chr15:75942000-75947800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:75943600-75948800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:75943800-75948200	Enhancers	Stomach Mucosa	stomach
6	chr15:75943800-75952800	Weak transcription	Fetal Kidney	kidney
7	chr15:75944000-75948800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:75944000-75949000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:75944000-75949400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:75944000-75951800	Weak transcription	Brain Angular Gyrus	brain
11	chr15:75944200-75947200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:75944200-75948000	Enhancers	Spleen	Spleen
13	chr15:75944200-75948400	Genic enhancers	Fetal Muscle Leg	muscle
14	chr15:75944200-75949200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:75944200-75952000	Weak transcription	HSMMtube	muscle
16	chr15:75944400-75949400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:75944400-75952400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:75944600-75947600	Enhancers	Liver	Liver
19	chr15:75944600-75948000	Enhancers	Right Atrium	heart
20	chr15:75944600-75948000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:75944600-75948800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr15:75944600-75954400	Genic enhancers	Lung	lung
23	chr15:75944800-75947200	Genic enhancers	Rectal Mucosa Donor 29	rectum
24	chr15:75944800-75947800	Genic enhancers	Gastric	stomach
25	chr15:75944800-75949000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:75944800-75949200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr15:75944800-75953800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:75945000-75947800	Enhancers	Brain Hippocampus Middle	brain
29	chr15:75945000-75948000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr15:75945000-75948200	Enhancers	HMEC	breast
31	chr15:75945000-75948400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:75945000-75949800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:75945000-75952200	Weak transcription	Thymus	Thymus
34	chr15:75945000-75953000	Weak transcription	HUVEC	blood vessel
35	chr15:75945000-75954000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:75945000-75954400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:75945200-75947200	Genic enhancers	NHLF	lung
38	chr15:75945200-75947600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:75945200-75947800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:75945200-75948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:75945200-75949200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:75945200-75949400	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr15:75945200-75953000	Weak transcription	Fetal Brain Male	brain
44	chr15:75945200-75955000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:75945400-75947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:75945400-75948200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:75945400-75953000	Weak transcription	Fetal Thymus	thymus
48	chr15:75945600-75947800	Genic enhancers	Colonic Mucosa	Colon
49	chr15:75945600-75951800	Weak transcription	A549	lung
50	chr15:75945600-75953000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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