Variant report

Variant	rs2838505
Chromosome Location	chr21:45583903-45583904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45581288..45584070-chr21:45586807..45588482,3	MCF-7	breast:
2	chr21:45573655..45575237-chr21:45583026..45585364,2	MCF-7	breast:
3	chr21:45553046..45554600-chr21:45582651..45585521,2	K562	blood:
4	chr21:45582972..45588290-chr21:45588610..45593083,12	MCF-7	breast:
5	chr21:45575692..45578304-chr21:45583075..45585227,2	K562	blood:
6	chr21:45579145..45582773-chr21:45583367..45588421,9	K562	blood:
7	chr21:45576170..45578304-chr21:45582737..45584575,2	K562	blood:

Variant related genes	Relation type
ENSG00000160221	Chromatin interaction
ENSG00000225331	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005045	0.83[EUR][1000 genomes]
rs11089116	0.81[EUR][1000 genomes]
rs12627273	0.83[EUR][1000 genomes]
rs13050554	0.85[EUR][1000 genomes]
rs2838506	0.88[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5025936	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7280236	0.88[CEU][hapmap]
rs8131733	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats 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
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
3	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
4	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
6	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
8	chr21:45580800-45584800	Weak transcription	Gastric	stomach
9	chr21:45580800-45585800	Weak transcription	HUVEC	blood vessel
10	chr21:45580800-45586600	Weak transcription	Right Ventricle	heart
11	chr21:45580800-45589200	Weak transcription	Colonic Mucosa	Colon
12	chr21:45581000-45584600	Weak transcription	Brain Germinal Matrix	brain
13	chr21:45581000-45586200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:45581000-45586400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr21:45581000-45590400	Weak transcription	Pancreas	Pancrea
16	chr21:45581000-45591600	Weak transcription	Right Atrium	heart
17	chr21:45581200-45584600	Weak transcription	Primary T cells from cord blood	blood
18	chr21:45581200-45585000	Weak transcription	Brain Angular Gyrus	brain
19	chr21:45581200-45585000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:45581200-45585800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45581200-45585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:45581200-45585800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr21:45581200-45586000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr21:45581200-45586600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr21:45581200-45589000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:45581400-45584400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr21:45581400-45584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr21:45581400-45584600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:45581400-45584600	Weak transcription	Brain Substantia Nigra	brain
30	chr21:45581400-45584600	Weak transcription	Fetal Thymus	thymus
31	chr21:45581400-45585000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr21:45581400-45585200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr21:45581400-45585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr21:45581400-45586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr21:45581400-45586000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr21:45581400-45586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr21:45581400-45586800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:45581600-45586200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr21:45582000-45584600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:45582000-45584800	Weak transcription	Brain Anterior Caudate	brain
41	chr21:45582000-45586400	Weak transcription	Adipose Nuclei	Adipose
42	chr21:45582000-45587400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr21:45582200-45585200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr21:45582400-45584600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr21:45582400-45586800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr21:45582600-45584200	Strong transcription	Ovary	ovary
47	chr21:45582600-45584600	Strong transcription	Spleen	Spleen
48	chr21:45582600-45584800	Weak transcription	Primary B cells from cord blood	blood
49	chr21:45582800-45584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:45582800-45584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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