Variant report

Variant	rs17004571
Chromosome Location	chr21:44929177-44929178
allele	G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44926548..44929321-chr21:44932759..44934671,2	K562	blood:
2	chr21:44760744..44765599-chr21:44927861..44932973,6	MCF-7	breast:
3	chr21:44839515..44855046-chr21:44918803..44938582,70	MCF-7	breast:
4	chr21:44928875..44931756-chr21:45061674..45064639,3	MCF-7	breast:
5	chr1:228289966..228292061-chr21:44929156..44932152,2	MCF-7	breast:
6	chr21:44923096..44924889-chr21:44928271..44930094,2	K562	blood:
7	chr21:44928800..44930891-chr21:45050840..45052850,2	MCF-7	breast:
8	chr21:44928466..44930891-chr21:45052329..45054531,3	MCF-7	breast:
9	chr21:44925704..44927836-chr21:44928810..44931005,2	K562	blood:
10	chr21:44865161..44868150-chr21:44929040..44930738,2	MCF-7	breast:
11	chr21:44926667..44929719-chr21:45029857..45032741,3	MCF-7	breast:
12	chr21:44844533..44847872-chr21:44929082..44940063,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143793	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000188660	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11911243	1.00[EUR][1000 genomes]
rs17004570	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17004572	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17004605	0.84[EUR][1000 genomes]
rs2117983	0.84[EUR][1000 genomes]
rs4819297	0.84[EUR][1000 genomes]
rs56698438	1.00[EUR][1000 genomes]
rs57734276	0.96[EUR][1000 genomes]
rs58248685	1.00[EUR][1000 genomes]
rs60365395	0.80[EUR][1000 genomes]
rs60772506	1.00[EUR][1000 genomes]
rs61060243	0.84[EUR][1000 genomes]
rs61105490	1.00[EUR][1000 genomes]
rs73906592	0.96[EUR][1000 genomes]
rs73906595	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906600	1.00[EUR][1000 genomes]
rs73906601	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73908372	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
8	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
9	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
12	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
15	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
16	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
17	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
18	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
19	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 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	chr21:44918800-44930200	Weak transcription	Fetal Kidney	kidney
2	chr21:44919800-44936800	Weak transcription	Fetal Brain Female	brain
3	chr21:44922800-44936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:44923400-44934000	Weak transcription	Gastric	stomach
5	chr21:44923400-44936600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:44923400-44936600	Weak transcription	Brain Germinal Matrix	brain
7	chr21:44924000-44930200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:44924200-44929800	Weak transcription	HMEC	breast
9	chr21:44924400-44929200	Weak transcription	A549	lung
10	chr21:44925400-44930000	Weak transcription	Right Atrium	heart
11	chr21:44926200-44929400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr21:44926400-44930000	Weak transcription	Left Ventricle	heart
13	chr21:44926600-44929200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:44926800-44938200	Enhancers	Fetal Thymus	thymus
15	chr21:44927000-44929200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:44927000-44929800	Weak transcription	Esophagus	oesophagus
17	chr21:44927000-44929800	Weak transcription	Thymus	Thymus
18	chr21:44927000-44930000	Weak transcription	Placenta	Placenta
19	chr21:44927000-44930000	Weak transcription	Psoas Muscle	Psoas
20	chr21:44927000-44930400	Weak transcription	HepG2	liver
21	chr21:44927000-44930600	Weak transcription	Stomach Mucosa	stomach
22	chr21:44927200-44930800	Weak transcription	Fetal Lung	lung
23	chr21:44927800-44929800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:44927800-44930200	Weak transcription	Fetal Intestine Small	intestine
25	chr21:44927800-44930200	Weak transcription	Pancreas	Pancrea
26	chr21:44928000-44929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:44928000-44929400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:44928000-44930400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:44928200-44929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr21:44928200-44929200	Weak transcription	HSMMtube	muscle
31	chr21:44928200-44929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr21:44928200-44930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:44928400-44929200	Weak transcription	HSMM	muscle
34	chr21:44928400-44929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:44928400-44930600	Weak transcription	Ovary	ovary
36	chr21:44928800-44929800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:44928800-44941000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:44929000-44929600	Strong transcription	NHEK	skin
39	chr21:44929000-44931400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:44929000-44933600	Enhancers	Fetal Muscle Leg	muscle
41	chr21:44929000-44933600	Enhancers	Spleen	Spleen

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