Variant report

Variant	rs2253763
Chromosome Location	chr21:46642764-46642765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46642556..46644415-chr21:46646338..46649203,2	MCF-7	breast:
2	chr21:46637241..46640221-chr21:46640373..46643310,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11701929	0.92[ASN][1000 genomes]
rs2150439	0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs2838807	0.83[MEX][hapmap]
rs2838820	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7281416	0.83[MEX][hapmap]
rs7281757	0.85[CHB][hapmap];0.83[AMR][1000 genomes]
rs8134789	0.83[MEX][hapmap]
rs914210	0.85[CHB][hapmap]

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	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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
7	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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	51 gene(s)	inside rSNPs	diseases
13	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv587841	chr21:46619840-46647078	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	43 gene(s)	inside rSNPs	diseases
19	nsv587842	chr21:46641017-46670752	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2253763	PDXK	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
4	chr21:46611000-46644600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr21:46611000-46645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:46625000-46645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:46628600-46644200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:46628800-46644600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:46628800-46644800	Strong transcription	HSMM	muscle
10	chr21:46629600-46645400	Weak transcription	NHLF	lung
11	chr21:46632600-46643200	Weak transcription	HUVEC	blood vessel
12	chr21:46632600-46644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr21:46632600-46647000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:46637400-46646000	Strong transcription	Hela-S3	cervix
15	chr21:46637800-46644000	Strong transcription	Primary T cells from cord blood	blood
16	chr21:46637800-46644000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr21:46637800-46644000	Weak transcription	Psoas Muscle	Psoas
18	chr21:46637800-46644800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
20	chr21:46638000-46644200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:46638200-46643600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr21:46638200-46644000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:46638400-46644000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr21:46638400-46644200	Strong transcription	Fetal Muscle Leg	muscle
25	chr21:46638400-46644400	Strong transcription	Fetal Stomach	stomach
26	chr21:46638400-46646400	Weak transcription	Fetal Intestine Large	intestine
27	chr21:46638600-46643600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:46638600-46646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:46638800-46645000	Weak transcription	NH-A	brain
30	chr21:46639200-46644600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr21:46639600-46643800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:46639600-46644000	Strong transcription	Gastric	stomach
33	chr21:46639600-46644400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr21:46639800-46643200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:46639800-46646400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr21:46639800-46648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:46640000-46644000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr21:46640200-46643800	Strong transcription	Brain Anterior Caudate	brain
39	chr21:46640200-46643800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:46640200-46644000	Strong transcription	Pancreas	Pancrea
41	chr21:46640200-46644000	Strong transcription	Right Ventricle	heart
42	chr21:46640200-46644400	Strong transcription	Lung	lung
43	chr21:46640200-46644600	Strong transcription	Aorta	Aorta
44	chr21:46640200-46645000	Weak transcription	NHEK	skin
45	chr21:46640400-46642800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr21:46640400-46642800	Strong transcription	Dnd41	blood
47	chr21:46640400-46643600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr21:46640400-46643800	Strong transcription	Esophagus	oesophagus
49	chr21:46640400-46643800	Strong transcription	Left Ventricle	heart
50	chr21:46640400-46644000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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