Variant report

Variant	rs2228507
Chromosome Location	chr21:16339570-16339571
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:16336644-16340045	K562	blood:	n/a	n/a
2	POLR2A	chr21:16336620-16340812	HepG2	liver:	n/a	n/a
3	POLR2A	chr21:16338008-16340919	MCF-7	breast:	n/a	n/a
4	POLR2A	chr21:16339201-16339890	HepG2	liver:	n/a	n/a
5	POLR2A	chr21:16339459-16339589	ProgFib	skin:	n/a	n/a
6	POLR2A	chr21:16339491-16340303	A549	lung:	n/a	n/a
7	POLR2A	chr21:16339430-16339639	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16339290..16342018-chr21:16922102..16924316,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231201	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12329892	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3787575	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs56862001	0.95[ASN][1000 genomes]
rs59988518	0.99[ASN][1000 genomes]
rs881996	0.95[ASN][1000 genomes]
rs926184	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16328800-16341600	Weak transcription	Hela-S3	cervix
2	chr21:16331400-16339600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:16331600-16341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:16331800-16340200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:16334400-16339600	Weak transcription	Right Ventricle	heart
6	chr21:16334400-16342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:16334800-16342400	Strong transcription	Primary hematopoietic stem cells	blood
8	chr21:16335000-16340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:16335400-16340000	Strong transcription	HMEC	breast
10	chr21:16335400-16340800	Strong transcription	NH-A	brain
11	chr21:16335400-16341400	Strong transcription	Fetal Thymus	thymus
12	chr21:16335600-16341200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:16335600-16341400	Strong transcription	Fetal Intestine Large	intestine
14	chr21:16335600-16342600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr21:16335800-16340800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:16335800-16341400	Strong transcription	Dnd41	blood
17	chr21:16335800-16342000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:16336400-16340800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:16336400-16351600	Weak transcription	Fetal Heart	heart
20	chr21:16336600-16341400	Strong transcription	A549	lung
21	chr21:16336800-16341400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:16337000-16339600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:16337000-16340600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:16337000-16340800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:16337000-16340800	Strong transcription	Fetal Muscle Leg	muscle
26	chr21:16337000-16341000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:16337000-16341200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr21:16337000-16341400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr21:16337200-16339600	Weak transcription	Esophagus	oesophagus
30	chr21:16337200-16339600	Strong transcription	Left Ventricle	heart
31	chr21:16337200-16340400	Strong transcription	Fetal Lung	lung
32	chr21:16337200-16340400	Strong transcription	HSMMtube	muscle
33	chr21:16337200-16340800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:16337200-16340800	Strong transcription	Primary B cells from cord blood	blood
35	chr21:16337200-16340800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr21:16337200-16341400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:16337200-16341400	Strong transcription	HepG2	liver
38	chr21:16337200-16341800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr21:16337400-16340800	Strong transcription	Thymus	Thymus
40	chr21:16337400-16340800	Strong transcription	Osteobl	bone
41	chr21:16337400-16341200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr21:16337600-16340600	Strong transcription	Fetal Stomach	stomach
43	chr21:16337600-16340800	Strong transcription	HSMM	muscle
44	chr21:16337600-16341400	Strong transcription	Liver	Liver
45	chr21:16337800-16340000	Strong transcription	NHEK	skin
46	chr21:16337800-16340800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:16337800-16342000	Strong transcription	K562	blood
48	chr21:16337800-16342200	Weak transcription	Stomach Mucosa	stomach
49	chr21:16338000-16339600	Weak transcription	Aorta	Aorta
50	chr21:16338000-16339800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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