Variant report

Variant	rs235359
Chromosome Location	chr21:46194843-46194844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46191774..46195064-chr21:46219611..46223418,6	MCF-7	breast:
2	chr21:45929071..45931481-chr21:46193501..46196167,2	MCF-7	breast:
3	chr21:46192705..46195103-chr21:46494291..46496307,3	K562	blood:
4	chr21:46194730..46196311-chr21:46292616..46294794,2	K562	blood:
5	chr21:46191363..46195338-chr21:46195868..46201575,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs170959	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173095	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173097	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180313	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184634	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186848	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235274	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235291	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235292	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235293	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235335	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235336	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235350	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235355	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235364	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235365	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235367	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235368	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570974	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34800103	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611462	0.87[EUR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46185800-46199600	Weak transcription	Stomach Mucosa	stomach
2	chr21:46186200-46199400	Weak transcription	Right Atrium	heart
3	chr21:46187000-46195400	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:46187200-46197800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:46187600-46196200	Strong transcription	Thymus	Thymus
7	chr21:46187800-46196600	Strong transcription	Right Ventricle	heart
8	chr21:46187800-46199000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:46187800-46206200	Strong transcription	Fetal Thymus	thymus
10	chr21:46188000-46195800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:46188000-46196800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:46188000-46198600	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:46188000-46198600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr21:46188000-46198800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:46188000-46199000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:46188000-46201600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr21:46188000-46203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr21:46188000-46203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr21:46188200-46195000	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr21:46188200-46197000	Strong transcription	Fetal Brain Female	brain
22	chr21:46188200-46197200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr21:46188200-46197200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr21:46188200-46197400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr21:46188200-46198800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:46188200-46199000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:46188200-46199800	Strong transcription	Primary T cells from cord blood	blood
28	chr21:46188200-46201600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:46188400-46196000	Strong transcription	Ovary	ovary
30	chr21:46188400-46196800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr21:46188400-46197000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr21:46188400-46198600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:46188400-46198600	Strong transcription	Adipose Nuclei	Adipose
34	chr21:46188400-46199400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:46188600-46197400	Strong transcription	Liver	Liver
36	chr21:46188600-46198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr21:46188600-46200200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr21:46188600-46201600	Strong transcription	Fetal Stomach	stomach
39	chr21:46188600-46208000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr21:46188800-46196000	Strong transcription	Pancreas	Pancrea
41	chr21:46189000-46198400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr21:46189000-46199600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:46189000-46201400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr21:46189200-46203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:46189400-46198800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:46189400-46198800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:46189600-46195000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:46189600-46195200	Strong transcription	Colonic Mucosa	Colon
50	chr21:46189600-46195200	Strong transcription	Colon Smooth Muscle	Colon

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