Variant report

Variant	rs9680225
Chromosome Location	chr21:40755500-40755501
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	chr21:40755494-40755513	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
2	chr21:40754696..40757531-chr21:40758610..40760673,2	K562	blood:
3	chr21:40658563..40660447-chr21:40754339..40756006,2	MCF-7	breast:

Variant related genes	Relation type
WRB	TF binding region
ENSG00000185658	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000255568	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11088476	0.90[EUR][1000 genomes]
rs2063999	0.90[EUR][1000 genomes]
rs2277788	0.90[EUR][1000 genomes]
rs2410157	0.90[EUR][1000 genomes]
rs3787925	0.90[EUR][1000 genomes]
rs3827209	0.90[EUR][1000 genomes]
rs4358205	0.88[EUR][1000 genomes]
rs7277386	0.90[EUR][1000 genomes]
rs8127431	0.88[EUR][1000 genomes]
rs8129943	0.90[EUR][1000 genomes]
rs8130752	0.90[EUR][1000 genomes]
rs975479	0.90[EUR][1000 genomes]
rs9979083	0.88[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	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40752800-40756600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:40753000-40758000	Weak transcription	Small Intestine	intestine
3	chr21:40753200-40756800	Weak transcription	Lung	lung
4	chr21:40753200-40757000	Weak transcription	Stomach Mucosa	stomach
5	chr21:40753200-40757200	Weak transcription	Gastric	stomach
6	chr21:40753200-40757400	Weak transcription	Left Ventricle	heart
7	chr21:40753200-40759400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40753200-40759800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:40753400-40756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:40753400-40756600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:40753400-40756600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:40753400-40756600	Weak transcription	Fetal Muscle Leg	muscle
13	chr21:40753400-40756800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:40753400-40756800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:40753400-40756800	Weak transcription	Fetal Intestine Large	intestine
16	chr21:40753400-40756800	Weak transcription	Pancreas	Pancrea
17	chr21:40753400-40756800	Weak transcription	GM12878-XiMat	blood
18	chr21:40753400-40756800	Weak transcription	HSMM	muscle
19	chr21:40753400-40757000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:40753400-40757000	Weak transcription	Colonic Mucosa	Colon
21	chr21:40753400-40757000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr21:40753400-40757000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr21:40753400-40757000	Weak transcription	Right Ventricle	heart
24	chr21:40753400-40757200	Weak transcription	Brain Angular Gyrus	brain
25	chr21:40753400-40757200	Weak transcription	Placenta	Placenta
26	chr21:40753400-40757200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:40753400-40757200	Weak transcription	Spleen	Spleen
28	chr21:40753400-40757400	Weak transcription	Fetal Kidney	kidney
29	chr21:40753400-40757400	Weak transcription	Psoas Muscle	Psoas
30	chr21:40753400-40757600	Weak transcription	Primary T cells from cord blood	blood
31	chr21:40753400-40757600	Weak transcription	Esophagus	oesophagus
32	chr21:40753400-40757600	Weak transcription	Fetal Lung	lung
33	chr21:40753400-40757600	Weak transcription	Fetal Thymus	thymus
34	chr21:40753400-40757600	Weak transcription	Right Atrium	heart
35	chr21:40753400-40757600	Weak transcription	Thymus	Thymus
36	chr21:40753400-40759400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr21:40753400-40759400	Weak transcription	Aorta	Aorta
38	chr21:40753400-40760200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr21:40753600-40756000	Weak transcription	HepG2	liver
40	chr21:40753600-40756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr21:40753600-40756400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr21:40753600-40756600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr21:40753600-40756600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr21:40753600-40756600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:40753600-40756600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr21:40753600-40756600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:40753600-40756600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr21:40753600-40756600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:40753600-40756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:40753600-40756600	Weak transcription	Muscle Satellite Cultured Cells	--

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