Variant report

Variant	rs57815996
Chromosome Location	chr21:45179391-45179392
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45178045..45180449-chr21:45196494..45198346,2	MCF-7	breast:
2	chr21:45177511..45180498-chr21:45193933..45196367,2	MCF-7	breast:
3	chr21:45176919..45181577-chr21:45207690..45210859,4	MCF-7	breast:
4	chr21:45159505..45163027-chr21:45178422..45181506,3	MCF-7	breast:
5	chr21:45170373..45174526-chr21:45175102..45180278,8	K562	blood:
6	chr21:45165588..45167444-chr21:45177367..45179445,2	MCF-7	breast:
7	chr21:45176799..45180649-chr21:45186150..45189373,7	K562	blood:
8	chr21:45173766..45177589-chr21:45178136..45181222,4	MCF-7	breast:
9	chr21:45154001..45156611-chr21:45177637..45180387,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160213	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160214	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs28490099	1.00[EUR][1000 genomes]
rs28581805	1.00[EUR][1000 genomes]
rs58028593	1.00[AMR][1000 genomes]
rs59208251	1.00[AMR][1000 genomes]
rs59339575	1.00[EUR][1000 genomes]
rs61160035	1.00[AMR][1000 genomes]
rs61299327	1.00[EUR][1000 genomes]
rs6383	1.00[EUR][1000 genomes]
rs7276461	1.00[AMR][1000 genomes]
rs7276663	1.00[AMR][1000 genomes]
rs7277203	1.00[AMR][1000 genomes]
rs73906611	1.00[AMR][1000 genomes]
rs73906661	1.00[AMR][1000 genomes]
rs73908377	1.00[EUR][1000 genomes]
rs73908383	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8127335	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8129408	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8129421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8132097	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8132862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9974076	1.00[EUR][1000 genomes]
rs9978334	1.00[EUR][1000 genomes]
rs9979923	1.00[EUR][1000 genomes]
rs9984929	1.00[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	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
19	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
20	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
21	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
22	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

No data

Chromatin state (count:121 , 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	chr21:45161200-45183600	Strong transcription	Fetal Intestine Large	intestine
8	chr21:45161400-45182200	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr21:45161400-45183200	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr21:45161400-45185400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr21:45161600-45179400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr21:45161600-45183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr21:45161800-45184800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:45162000-45180000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:45162000-45185200	Weak transcription	Thymus	Thymus
16	chr21:45162200-45181600	Strong transcription	NHEK	skin
17	chr21:45163200-45183400	Strong transcription	NHLF	lung
18	chr21:45163600-45183600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:45163600-45184000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:45163600-45184200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:45163600-45185000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:45163800-45179600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr21:45166600-45186800	Weak transcription	Fetal Lung	lung
24	chr21:45167000-45184800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:45167200-45187200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:45168800-45194000	Weak transcription	Right Atrium	heart
27	chr21:45169800-45179400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr21:45169800-45184000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:45170000-45179600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:45170400-45181200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr21:45171000-45182800	Strong transcription	Gastric	stomach
32	chr21:45172000-45179400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:45172000-45179400	Strong transcription	GM12878-XiMat	blood
34	chr21:45172400-45179400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:45173200-45183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45173200-45183800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:45173600-45188000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr21:45174400-45195200	Weak transcription	Psoas Muscle	Psoas
39	chr21:45174800-45194000	Weak transcription	Fetal Heart	heart
40	chr21:45175000-45183200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr21:45175600-45182600	Strong transcription	Right Ventricle	heart
42	chr21:45176200-45179400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr21:45176200-45179800	Weak transcription	Stomach Mucosa	stomach
44	chr21:45176200-45188000	Weak transcription	HUVEC	blood vessel
45	chr21:45176600-45192800	Weak transcription	Primary B cells from cord blood	blood
46	chr21:45176800-45179400	Genic enhancers	Placenta	Placenta
47	chr21:45177000-45179400	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr21:45177000-45179800	Weak transcription	Left Ventricle	heart
49	chr21:45177000-45180000	Genic enhancers	Fetal Stomach	stomach
50	chr21:45177000-45181600	Weak transcription	NHDF-Ad	bronchial

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