Variant report

Variant	rs13051119
Chromosome Location	chr21:46203288-46203289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46202272..46204330-chr21:46240316..46243061,2	K562	blood:
2	chr21:46198042..46200426-chr21:46201214..46204112,4	K562	blood:
3	chr21:46182055..46185052-chr21:46201680..46204266,2	MCF-7	breast:
4	chr21:46192937..46195501-chr21:46201890..46203698,2	MCF-7	breast:
5	chr21:46177180..46179450-chr21:46200338..46203449,3	MCF-7	breast:
6	chr21:46202815..46206353-chr21:46211210..46215151,6	K562	blood:

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13047692	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13047718	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13433413	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2294158	0.81[ASN][1000 genomes]
rs2838677	0.80[ASN][1000 genomes]
rs2838679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838693	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2838697	0.92[EUR][1000 genomes]
rs34875321	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4818976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4818977	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72613649	0.87[EUR][1000 genomes]
rs8131444	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8132011	0.99[ASN][1000 genomes]
rs9306115	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9637189	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9977465	0.92[EUR][1000 genomes]
rs9978131	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:46187800-46206200	Strong transcription	Fetal Thymus	thymus
3	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr21:46188600-46208000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:46189600-46203600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:46189600-46207800	Strong transcription	Dnd41	blood
8	chr21:46190800-46209600	Weak transcription	Fetal Brain Male	brain
9	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr21:46193800-46206000	Weak transcription	Brain Hippocampus Middle	brain
11	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
12	chr21:46195000-46211200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:46195000-46212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
15	chr21:46195200-46204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:46195600-46211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:46196000-46205600	Weak transcription	Brain Anterior Caudate	brain
19	chr21:46196000-46211800	Weak transcription	NHLF	lung
20	chr21:46196800-46203400	Weak transcription	Brain Germinal Matrix	brain
21	chr21:46197200-46213000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr21:46197400-46204800	Weak transcription	Brain Substantia Nigra	brain
24	chr21:46197400-46212800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr21:46198000-46207200	Weak transcription	NH-A	brain
26	chr21:46198200-46204800	Weak transcription	Placenta	Placenta
27	chr21:46198400-46207200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr21:46198600-46204600	Weak transcription	Fetal Intestine Large	intestine
29	chr21:46198600-46212000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr21:46198800-46204200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr21:46198800-46208000	Strong transcription	K562	blood
32	chr21:46198800-46211400	Weak transcription	HUVEC	blood vessel
33	chr21:46198800-46213000	Weak transcription	Brain Angular Gyrus	brain
34	chr21:46198800-46219600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr21:46198800-46220000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr21:46198800-46220000	Weak transcription	Fetal Kidney	kidney
37	chr21:46199200-46207000	Weak transcription	Osteobl	bone
38	chr21:46199600-46203600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr21:46199800-46204600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:46199800-46209400	Weak transcription	NHDF-Ad	bronchial
41	chr21:46200000-46204800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr21:46200400-46203800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr21:46200400-46204400	Weak transcription	HepG2	liver
45	chr21:46200400-46204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:46200400-46204600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr21:46200400-46205200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:46200400-46212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr21:46200400-46218200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:46200600-46205200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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