Variant report

Variant	rs73906595
Chromosome Location	chr21:44923645-44923646
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44596408..44597544-chr21:44922093..44923863,11	MCF-7	breast:
2	chr21:44923096..44924889-chr21:44928271..44930094,2	K562	blood:
3	chr21:44922115..44924476-chr21:45011241..45014029,2	MCF-7	breast:
4	chr21:44920414..44926751-chr21:45027970..45034874,9	MCF-7	breast:
5	chr21:44596910..44599943-chr21:44921245..44924609,4	MCF-7	breast:
6	chr21:44919342..44924591-chr21:45027154..45033706,9	MCF-7	breast:
7	chr21:44923063..44923876-chr21:45029401..45030153,2	MCF-7	breast:
8	chr21:44839515..44855046-chr21:44918803..44938582,70	MCF-7	breast:
9	chr21:44920448..44924375-chr21:45064080..45067016,3	MCF-7	breast:
10	chr21:44896492..44901028-chr21:44922063..44925806,9	MCF-7	breast:
11	chr21:44903235..44910338-chr21:44918042..44927375,22	MCF-7	breast:
12	chr21:44897899..44899872-chr21:44921626..44924260,2	MCF-7	breast:
13	chr21:44846946..44847952-chr21:44922949..44923895,6	MCF-7	breast:
14	chr21:44920968..44924573-chr21:44951870..44954060,3	MCF-7	breast:
15	chr21:44922907..44925146-chr21:44925882..44927883,3	K562	blood:
16	chr21:44921368..44924972-chr21:45021207..45026616,5	MCF-7	breast:
17	chr21:44818100..44821352-chr21:44920857..44923649,3	MCF-7	breast:
18	chr21:44832201..44834588-chr21:44921157..44924539,3	MCF-7	breast:
19	chr21:44922604..44925012-chr21:45081747..45084022,2	MCF-7	breast:
20	chr21:44597633..44599530-chr21:44922531..44924601,2	MCF-7	breast:
21	chr21:44760916..44764900-chr21:44922061..44925479,7	MCF-7	breast:
22	chr21:44856303..44862867-chr21:44920773..44925316,7	MCF-7	breast:
23	chr21:44816577..44818523-chr21:44921676..44924469,3	MCF-7	breast:
24	chr21:44864230..44866337-chr21:44922192..44925093,2	MCF-7	breast:
25	chr21:44922573..44925185-chr21:45073787..45076386,2	MCF-7	breast:
26	chr21:44845968..44846741-chr21:44922767..44923697,3	MCF-7	breast:
27	chr21:44920665..44924347-chr21:45008352..45010476,3	MCF-7	breast:
28	chr21:44866574..44868384-chr21:44921844..44924261,3	MCF-7	breast:
29	chr21:44922977..44925347-chr21:45002345..45004091,2	MCF-7	breast:
30	chr21:44565939..44568730-chr21:44921518..44923783,2	MCF-7	breast:
31	chr21:44760657..44765448-chr21:44921066..44925837,8	MCF-7	breast:
32	chr21:44887407..44890768-chr21:44921075..44924362,4	MCF-7	breast:
33	chr21:44841823..44851058-chr21:44912330..44925700,37	MCF-7	breast:
34	chr21:44922069..44925059-chr21:45056481..45060092,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11911243	1.00[EUR][1000 genomes]
rs17004567	1.00[ASN][1000 genomes]
rs17004568	1.00[ASN][1000 genomes]
rs17004570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004571	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17004572	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17004605	0.84[EUR][1000 genomes]
rs2002482	1.00[ASN][1000 genomes]
rs2117983	0.84[EUR][1000 genomes]
rs4819297	0.84[EUR][1000 genomes]
rs56698438	1.00[EUR][1000 genomes]
rs57734276	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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]
rs7278754	1.00[ASN][1000 genomes]
rs73906591	1.00[ASN][1000 genomes]
rs73906592	0.96[EUR][1000 genomes]
rs73906600	1.00[EUR][1000 genomes]
rs73906601	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73908360	1.00[ASN][1000 genomes]
rs73908372	0.84[EUR][1000 genomes]
rs9981138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS 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	95 gene(s)	inside rSNPs	diseases
10	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	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
12	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44916800-44924200	Enhancers	HMEC	breast
2	chr21:44918800-44930200	Weak transcription	Fetal Kidney	kidney
3	chr21:44919800-44936800	Weak transcription	Fetal Brain Female	brain
4	chr21:44921200-44924200	Enhancers	Placenta	Placenta
5	chr21:44921400-44924000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:44921400-44924000	Enhancers	HepG2	liver
7	chr21:44921400-44924400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:44921600-44924000	Flanking Active TSS	Hela-S3	cervix
9	chr21:44921600-44924000	Enhancers	HSMM	muscle
10	chr21:44921600-44925200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr21:44921800-44923800	Enhancers	HSMMtube	muscle
12	chr21:44921800-44924000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:44921800-44924000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:44921800-44924000	Enhancers	Fetal Heart	heart
15	chr21:44921800-44924000	Enhancers	Fetal Intestine Small	intestine
16	chr21:44921800-44924000	Enhancers	Fetal Muscle Leg	muscle
17	chr21:44921800-44924000	Enhancers	Pancreas	Pancrea
18	chr21:44921800-44924400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:44921800-44924600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:44921800-44924800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:44921800-44925200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr21:44921800-44926400	Enhancers	Left Ventricle	heart
23	chr21:44922000-44923800	Enhancers	Liver	Liver
24	chr21:44922000-44924000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr21:44922000-44924000	Enhancers	Fetal Intestine Large	intestine
26	chr21:44922200-44924400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:44922800-44925600	Enhancers	Adipose Nuclei	Adipose
28	chr21:44922800-44926800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:44922800-44936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:44923000-44924800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr21:44923200-44924000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr21:44923200-44924000	Enhancers	Duodenum Mucosa	Duodenum
33	chr21:44923200-44924000	Enhancers	Stomach Mucosa	stomach
34	chr21:44923200-44926400	Weak transcription	Fetal Lung	lung
35	chr21:44923400-44923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr21:44923400-44924000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr21:44923400-44924400	Weak transcription	Right Atrium	heart
38	chr21:44923400-44924400	Enhancers	A549	lung
39	chr21:44923400-44924400	Weak transcription	NH-A	brain
40	chr21:44923400-44924800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr21:44923400-44926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:44923400-44926000	Weak transcription	Fetal Stomach	stomach
43	chr21:44923400-44926200	Weak transcription	Ovary	ovary
44	chr21:44923400-44926400	Weak transcription	Esophagus	oesophagus
45	chr21:44923400-44926400	Weak transcription	NHEK	skin
46	chr21:44923400-44926600	Weak transcription	Psoas Muscle	Psoas
47	chr21:44923400-44929000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr21:44923400-44934000	Weak transcription	Gastric	stomach
49	chr21:44923400-44936600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr21:44923400-44936600	Weak transcription	Brain Germinal Matrix	brain

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