Variant report

Variant	rs7276055
Chromosome Location	chr21:45629619-45629620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
2	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
3	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
4	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:
5	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
6	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:

Variant related genes	Relation type
ENSG00000232124	Chromatin interaction
ENSG00000237604	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000267913	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1005164	1.00[CHB][hapmap]
rs2329709	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2838514	1.00[ASN][1000 genomes]
rs2838523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838535	1.00[CHB][hapmap]
rs378993	1.00[ASN][1000 genomes]
rs41277544	1.00[ASN][1000 genomes]
rs41277552	1.00[ASN][1000 genomes]
rs45566431	1.00[ASN][1000 genomes]
rs58940818	1.00[ASN][1000 genomes]
rs59738122	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59829171	1.00[ASN][1000 genomes]
rs62220372	1.00[ASN][1000 genomes]
rs62220373	1.00[ASN][1000 genomes]
rs62220410	1.00[ASN][1000 genomes]
rs6518349	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7277413	0.87[YRI][hapmap]
rs7277916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73381309	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73381322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73381331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8126899	1.00[ASN][1000 genomes]
rs8130302	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription 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	64 gene(s)	inside rSNPs	diseases
10	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
11	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
12	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv913901	chr21:45615741-45665330	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
14	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv518543	chr21:45627976-45630608	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv470906	chr21:45627976-45661343	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv587739	chr21:45628374-45640629	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv517401	chr21:45629368-45630608	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	esv3373197	chr21:45629524-45634222	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
21	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45622800-45629800	Enhancers	Placenta	Placenta
2	chr21:45623000-45629800	Enhancers	Fetal Muscle Leg	muscle
3	chr21:45625400-45630200	Enhancers	Primary hematopoietic stem cells	blood
4	chr21:45626600-45629800	Enhancers	HUVEC	blood vessel
5	chr21:45626800-45630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:45627000-45629800	Enhancers	Brain Hippocampus Middle	brain
7	chr21:45627200-45631000	Enhancers	Primary B cells from cord blood	blood
8	chr21:45627600-45631600	Weak transcription	Gastric	stomach
9	chr21:45627800-45636600	Enhancers	Primary B cells from peripheral blood	blood
10	chr21:45628000-45630600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:45628000-45631400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:45628400-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:45628600-45629800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:45628600-45629800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:45628600-45631400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr21:45628600-45631800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr21:45628600-45632000	Weak transcription	Primary T cells from cord blood	blood
18	chr21:45628600-45632000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr21:45628600-45632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:45628600-45632400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:45628600-45638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:45628600-45639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
24	chr21:45628800-45630000	Weak transcription	Spleen	Spleen
25	chr21:45628800-45631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr21:45628800-45633400	Weak transcription	NHLF	lung
27	chr21:45628800-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:45629000-45629800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:45629000-45631600	Enhancers	GM12878-XiMat	blood
30	chr21:45629000-45638200	Weak transcription	HMEC	breast
31	chr21:45629200-45635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:45629200-45637600	Weak transcription	Stomach Mucosa	stomach
33	chr21:45629400-45631800	Weak transcription	K562	blood
34	chr21:45629400-45633600	Weak transcription	Esophagus	oesophagus
35	chr21:45629600-45629800	Enhancers	Thymus	Thymus
36	chr21:45629600-45631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:45629600-45631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:45629600-45632000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr21:45629600-45632000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:45629600-45637800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:45629600-45638000	Weak transcription	Rectal Mucosa Donor 29	rectum

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