Variant report

Variant	rs8128206
Chromosome Location	chr21:45146283-45146284
allele	A/G
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	chr21:45146212-45150537	HepG2	liver:	n/a	n/a
2	EP300	chr21:45145509-45146285	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr21:45145476-45146331	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr21:45145485-45146353	ECC-1	luminal epithelium:	n/a	chr21:45145864-45145871 chr21:45145860-45145870
5	NFIC	chr21:45145503-45146345	ECC-1	luminal epithelium:	n/a	n/a
6	TCF7L2	chr21:45145583-45146622	Hela-S3	cervix:	n/a	chr21:45145998-45146012

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45145345..45148604-chr21:45164623..45167520,3	MCF-7	breast:
2	chr21:45104884..45107292-chr21:45145308..45147186,2	K562	blood:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000160208	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11909215	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1963214	0.88[EUR][1000 genomes]
rs2002482	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2838356	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7277065	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7280268	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73369494	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs743464	0.82[EUR][1000 genomes]
rs8127229	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	23 gene(s)	inside rSNPs	diseases
6	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
12	nsv913877	chr21:45133868-45163689	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
16	esv3355588	chr21:45144624-45148822	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
19	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45140600-45147400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:45140600-45147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:45140600-45147800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:45140800-45146600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:45140800-45147800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr21:45140800-45148000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr21:45141000-45146600	Weak transcription	Fetal Heart	heart
8	chr21:45141000-45146600	Weak transcription	Fetal Kidney	kidney
9	chr21:45141000-45148000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:45141200-45148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:45141600-45146600	Weak transcription	Fetal Brain Male	brain
12	chr21:45141600-45147600	Weak transcription	Fetal Brain Female	brain
13	chr21:45141800-45146800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:45142200-45146600	Weak transcription	Right Atrium	heart
15	chr21:45143600-45147600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:45143600-45148000	Enhancers	Primary B cells from cord blood	blood
17	chr21:45143800-45146600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr21:45143800-45146800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:45144000-45147800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:45144000-45148800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:45144200-45146600	Weak transcription	Gastric	stomach
22	chr21:45144200-45146800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr21:45144200-45147400	Genic enhancers	NHEK	skin
24	chr21:45144200-45147800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:45144200-45148000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:45144200-45148000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr21:45144200-45148400	Enhancers	Pancreas	Pancrea
28	chr21:45144400-45146600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:45144400-45146600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:45144400-45146600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:45144400-45146600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr21:45144400-45146600	Strong transcription	Fetal Intestine Small	intestine
33	chr21:45144400-45146800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:45144400-45147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:45144400-45148000	Enhancers	Placenta	Placenta
36	chr21:45144400-45148200	Enhancers	Primary B cells from peripheral blood	blood
37	chr21:45144600-45146600	Enhancers	Adipose Nuclei	Adipose
38	chr21:45144600-45147000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:45144600-45147400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:45144600-45147400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:45144800-45146600	Enhancers	Brain Hippocampus Middle	brain
42	chr21:45144800-45146600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr21:45144800-45146800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr21:45144800-45147000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr21:45144800-45147400	Enhancers	HMEC	breast
46	chr21:45144800-45147800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr21:45144800-45148000	Enhancers	Fetal Muscle Trunk	muscle
48	chr21:45144800-45148200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:45145000-45146600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr21:45145000-45146800	Enhancers	Brain Cingulate Gyrus	brain

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