Variant report

Variant	rs28691645
Chromosome Location	chr21:45193758-45193759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45175274..45178845-chr21:45192010..45195975,4	K562	blood:
2	chr21:45193105..45194812-chr21:45202001..45204627,2	MCF-7	breast:
3	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
4	chr21:45193334..45196312-chr21:45207752..45211007,4	MCF-7	breast:
5	chr21:45193472..45195191-chr21:45212602..45214337,2	K562	blood:
6	chr21:45151886..45156250-chr21:45192617..45197213,5	MCF-7	breast:
7	chr21:45176342..45178590-chr21:45192932..45195099,2	MCF-7	breast:
8	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234030	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160214	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs2070536	0.92[ASN][1000 genomes]
rs2070540	0.83[ASN][1000 genomes]
rs2073431	0.92[ASN][1000 genomes]
rs2276244	0.92[ASN][1000 genomes]
rs2838365	0.92[ASN][1000 genomes]
rs2838369	0.92[ASN][1000 genomes]
rs2838374	0.92[ASN][1000 genomes]
rs2838377	0.92[ASN][1000 genomes]
rs2838381	0.92[ASN][1000 genomes]
rs2838382	0.92[ASN][1000 genomes]
rs2838383	0.83[ASN][1000 genomes]
rs2838388	0.83[ASN][1000 genomes]
rs2838389	0.83[ASN][1000 genomes]
rs2838390	0.82[ASN][1000 genomes]
rs3819607	0.92[ASN][1000 genomes]
rs3819608	0.92[ASN][1000 genomes]
rs3819613	0.92[ASN][1000 genomes]
rs3819615	0.92[ASN][1000 genomes]
rs57450235	0.92[ASN][1000 genomes]
rs58078050	0.83[ASN][1000 genomes]
rs58464891	0.83[ASN][1000 genomes]
rs59461641	0.92[ASN][1000 genomes]
rs62229220	0.91[ASN][1000 genomes]
rs62229224	0.92[ASN][1000 genomes]
rs62229227	0.92[ASN][1000 genomes]
rs62229228	0.92[ASN][1000 genomes]
rs66472331	0.83[ASN][1000 genomes]
rs66829381	0.92[ASN][1000 genomes]
rs66850181	0.92[ASN][1000 genomes]
rs67002472	0.83[ASN][1000 genomes]
rs67083338	0.83[ASN][1000 genomes]
rs67127915	0.92[ASN][1000 genomes]
rs67443123	0.83[ASN][1000 genomes]
rs67883823	0.83[ASN][1000 genomes]
rs73224966	0.92[ASN][1000 genomes]
rs73224970	0.83[ASN][1000 genomes]
rs73224973	0.83[ASN][1000 genomes]
rs73224979	0.82[ASN][1000 genomes]
rs73367288	0.83[ASN][1000 genomes]
rs73379004	0.92[ASN][1000 genomes]
rs73379033	0.92[ASN][1000 genomes]
rs73379037	0.92[ASN][1000 genomes]
rs73379050	0.83[ASN][1000 genomes]
rs73379055	0.83[ASN][1000 genomes]
rs73379058	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	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
13	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr21:45168800-45194000	Weak transcription	Right Atrium	heart
3	chr21:45174400-45195200	Weak transcription	Psoas Muscle	Psoas
4	chr21:45174800-45194000	Weak transcription	Fetal Heart	heart
5	chr21:45177000-45193800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:45177000-45195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:45187400-45194400	Weak transcription	Fetal Lung	lung
8	chr21:45188600-45195200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:45188800-45194600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:45188800-45194600	Weak transcription	Stomach Mucosa	stomach
11	chr21:45190600-45194200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:45190600-45194600	Strong transcription	Fetal Intestine Small	intestine
13	chr21:45191000-45194000	Strong transcription	Brain Hippocampus Middle	brain
14	chr21:45191600-45194600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:45191800-45194000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:45191800-45194000	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:45191800-45194200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:45191800-45194200	Strong transcription	Fetal Stomach	stomach
19	chr21:45192000-45194200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr21:45192200-45194200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr21:45192200-45194600	Strong transcription	Placenta	Placenta
22	chr21:45192200-45194600	Weak transcription	Thymus	Thymus
23	chr21:45192400-45194000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:45192400-45194000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr21:45192400-45194000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:45192400-45194000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:45192400-45194000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:45192400-45194200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:45192400-45194200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:45192400-45194200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:45192400-45194200	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr21:45192400-45194200	Strong transcription	Spleen	Spleen
33	chr21:45192400-45194400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr21:45192400-45194400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr21:45192400-45194400	Strong transcription	NHDF-Ad	bronchial
36	chr21:45192400-45194600	Strong transcription	Colonic Mucosa	Colon
37	chr21:45192400-45194600	Strong transcription	Fetal Intestine Large	intestine
38	chr21:45192400-45194600	Strong transcription	Osteobl	bone
39	chr21:45192400-45195000	Strong transcription	NHEK	skin
40	chr21:45192600-45193800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr21:45192600-45194000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:45192600-45194200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:45192600-45194200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr21:45192600-45194200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr21:45192600-45194200	Strong transcription	Brain Germinal Matrix	brain
46	chr21:45192600-45194200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:45192600-45194200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr21:45192600-45194200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr21:45192600-45194400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:45192600-45194400	Strong transcription	Primary T cells from cord blood	blood

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