Variant report

Variant	rs8126928
Chromosome Location	chr21:45176268-45176269
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45162810..45165204-chr21:45175505..45178426,2	K562	blood:
2	chr21:45138491..45140784-chr21:45174555..45177027,2	MCF-7	breast:
3	chr21:45173766..45177589-chr21:45178136..45181222,4	MCF-7	breast:
4	chr21:45172846..45174492-chr21:45176032..45177914,2	MCF-7	breast:
5	chr21:45167914..45170036-chr21:45175029..45177838,2	K562	blood:
6	chr21:45154933..45157513-chr21:45174243..45177077,2	MCF-7	breast:
7	chr21:45175274..45178845-chr21:45192010..45195975,4	K562	blood:
8	chr21:45170373..45174526-chr21:45175102..45180278,8	K562	blood:
9	chr21:45174354..45177532-chr21:45180309..45182041,3	MCF-7	breast:
10	chr21:45156965..45158670-chr21:45174699..45176799,2	K562	blood:
11	chr21:45175067..45176952-chr21:45182703..45184647,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1079268	0.85[EUR][1000 genomes]
rs3211246	0.80[EUR][1000 genomes]
rs7276848	0.83[EUR][1000 genomes]
rs8128639	0.84[EUR][1000 genomes]
rs8134507	0.80[EUR][1000 genomes]
rs8377	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	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
6	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription 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	30 gene(s)	inside rSNPs	diseases
8	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
9	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
10	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv587716	chr21:45160087-45176621	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	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
20	nsv459291	chr21:45175958-45191139	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv587717	chr21:45175958-45191139	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8126928	CSTB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:45152200-45183400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr21:45154400-45184200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:45160600-45185600	Strong transcription	Fetal Intestine Small	intestine
6	chr21:45160800-45187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:45161200-45177200	Strong transcription	HepG2	liver
8	chr21:45161200-45183600	Strong transcription	Fetal Intestine Large	intestine
9	chr21:45161400-45176400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:45161400-45182200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr21:45161400-45183200	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr21:45161400-45185400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr21:45161600-45176800	Strong transcription	Placenta	Placenta
14	chr21:45161600-45177000	Strong transcription	Osteobl	bone
15	chr21:45161600-45178000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:45161600-45179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr21:45161600-45179400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr21:45161600-45183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr21:45161800-45184800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr21:45162000-45177200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr21:45162000-45178000	Strong transcription	Lung	lung
22	chr21:45162000-45180000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45162000-45185200	Weak transcription	Thymus	Thymus
24	chr21:45162200-45181600	Strong transcription	NHEK	skin
25	chr21:45162400-45176600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:45162400-45177000	Strong transcription	Fetal Stomach	stomach
27	chr21:45162400-45177600	Strong transcription	Colonic Mucosa	Colon
28	chr21:45163200-45176800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:45163200-45183400	Strong transcription	NHLF	lung
30	chr21:45163400-45176600	Strong transcription	Liver	Liver
31	chr21:45163400-45177000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:45163400-45177200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr21:45163600-45176800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr21:45163600-45176800	Strong transcription	Fetal Brain Female	brain
35	chr21:45163600-45177000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr21:45163600-45177200	Strong transcription	Brain Cingulate Gyrus	brain
37	chr21:45163600-45177400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr21:45163600-45179200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45163600-45183600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr21:45163600-45184000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:45163600-45184200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr21:45163600-45185000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:45163800-45177000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:45163800-45177400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr21:45163800-45179600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr21:45164200-45177000	Strong transcription	Brain Substantia Nigra	brain
47	chr21:45164400-45177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:45165000-45176400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:45166600-45186800	Weak transcription	Fetal Lung	lung
50	chr21:45167000-45184800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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