Variant report

Variant	rs13433413
Chromosome Location	chr21:46215503-46215504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46212986..46216283-chr21:46290808..46295304,6	MCF-7	breast:
2	chr21:46193806..46196106-chr21:46213755..46216749,2	MCF-7	breast:
3	chr21:46212672..46215534-chr21:46357420..46360250,2	K562	blood:
4	chr21:45929334..45931198-chr21:46213398..46215556,2	MCF-7	breast:
5	chr21:46213848..46216381-chr21:46247947..46249719,2	K562	blood:
6	chr21:45929172..45931870-chr21:46214156..46216375,3	MCF-7	breast:
7	chr21:46204645..46207342-chr21:46215204..46218349,3	K562	blood:

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13047692	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13047718	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13051119	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2294158	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2838676	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2838677	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2838679	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838681	0.81[AFR][1000 genomes]
rs2838683	0.80[AFR][1000 genomes]
rs2838693	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838697	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838698	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838700	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34875321	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788138	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4818731	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4818976	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818977	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613649	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73372511	0.84[AFR][1000 genomes]
rs8131444	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8132011	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9306115	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9306116	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637189	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977465	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977676	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9978131	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9984290	0.89[AFR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
3	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:46198800-46219600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:46198800-46220000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:46198800-46220000	Weak transcription	Fetal Kidney	kidney
8	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:46200400-46218200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:46201200-46220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46202400-46219200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:46203400-46220000	Weak transcription	Fetal Brain Female	brain
13	chr21:46205200-46220400	Weak transcription	Aorta	Aorta
14	chr21:46205200-46220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:46206200-46216200	Weak transcription	Placenta	Placenta
16	chr21:46206200-46218400	Weak transcription	Brain Anterior Caudate	brain
17	chr21:46206200-46219800	Weak transcription	Right Ventricle	heart
18	chr21:46206200-46220000	Weak transcription	Brain Germinal Matrix	brain
19	chr21:46206400-46220000	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:46206800-46220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:46209800-46217800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr21:46210000-46220000	Weak transcription	Fetal Brain Male	brain
23	chr21:46210200-46220000	Weak transcription	NH-A	brain
24	chr21:46211600-46220400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:46211800-46220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:46212000-46220000	Weak transcription	Lung	lung
27	chr21:46212000-46220400	Weak transcription	Colonic Mucosa	Colon
28	chr21:46212200-46216000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:46212400-46216000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr21:46212400-46217600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:46212400-46220400	Weak transcription	Spleen	Spleen
32	chr21:46212600-46217800	Weak transcription	NHLF	lung
33	chr21:46212600-46219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:46212800-46216400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:46212800-46216600	Weak transcription	Thymus	Thymus
36	chr21:46212800-46218000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr21:46213000-46218200	Weak transcription	Ovary	ovary
38	chr21:46213200-46215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:46213200-46215800	Weak transcription	Primary B cells from cord blood	blood
40	chr21:46213200-46217800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr21:46213400-46215600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:46213400-46215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr21:46213400-46215600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:46213400-46215600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:46213400-46215600	Weak transcription	Adipose Nuclei	Adipose
46	chr21:46213400-46215800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr21:46213400-46215800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr21:46213400-46215800	Weak transcription	Fetal Muscle Leg	muscle
49	chr21:46213400-46215800	Weak transcription	HSMM	muscle
50	chr21:46213400-46216000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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