Variant report

Variant	rs11638621
Chromosome Location	chr15:42228226-42228227
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	chr15:42226413..42228949-chr15:42234016..42236792,3	K562	blood:
2	chr15:42227796..42230685-chr15:42260289..42262026,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11070354	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11631075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11634233	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12913835	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426889	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1426890	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1648856	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1648857	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17687976	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17739125	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2114477	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2665213	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28660334	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4924589	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6493013	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6493014	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493015	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
6	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42210800-42230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:42220800-42230000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr15:42221200-42228600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:42221600-42229400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:42221600-42232400	Weak transcription	Ovary	ovary
6	chr15:42221800-42230800	Enhancers	Adipose Nuclei	Adipose
7	chr15:42221800-42236400	Weak transcription	Brain Angular Gyrus	brain
8	chr15:42222200-42249800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:42222800-42235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:42222800-42237600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:42223000-42229400	Weak transcription	Psoas Muscle	Psoas
12	chr15:42223000-42236200	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:42223200-42229000	Weak transcription	Brain Anterior Caudate	brain
14	chr15:42223200-42236000	Weak transcription	HepG2	liver
15	chr15:42223200-42243800	Weak transcription	Brain Substantia Nigra	brain
16	chr15:42223400-42229000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:42223400-42229200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:42223600-42229400	Weak transcription	Liver	Liver
19	chr15:42223800-42228600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:42224200-42229400	Genic enhancers	HSMM	muscle
21	chr15:42224400-42229800	Enhancers	Left Ventricle	heart
22	chr15:42224800-42228600	Enhancers	HMEC	breast
23	chr15:42224800-42229200	Enhancers	NH-A	brain
24	chr15:42224800-42232600	Enhancers	Fetal Heart	heart
25	chr15:42225200-42229000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:42225200-42230800	Enhancers	Fetal Thymus	thymus
27	chr15:42225400-42228400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:42225400-42229200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:42225400-42229400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr15:42225400-42229800	Enhancers	Spleen	Spleen
31	chr15:42225600-42231200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr15:42225800-42230000	Enhancers	Primary B cells from peripheral blood	blood
33	chr15:42225800-42230400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:42226000-42229200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:42226000-42230200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:42226000-42230400	Enhancers	Primary B cells from cord blood	blood
37	chr15:42226000-42230600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:42226000-42230800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:42226200-42229000	Enhancers	Duodenum Mucosa	Duodenum
40	chr15:42226200-42232200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:42226200-42232400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr15:42226400-42228400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:42226400-42228400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr15:42226400-42230800	Enhancers	Primary hematopoietic stem cells	blood
45	chr15:42226400-42232200	Weak transcription	Aorta	Aorta
46	chr15:42226400-42232600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:42226400-42233000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:42226600-42228400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:42226600-42230600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:42226600-42230600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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