Variant report

Variant	rs11911483
Chromosome Location	chr21:45028715-45028716
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45028297..45030345-chr21:45061837..45063899,2	MCF-7	breast:
2	chr21:45014001..45016149-chr21:45027963..45031277,3	MCF-7	breast:
3	chr21:45005141..45010452-chr21:45028185..45033118,8	MCF-7	breast:
4	chr21:44907751..44909575-chr21:45027972..45030123,2	MCF-7	breast:
5	chr21:44997574..45001313-chr21:45028086..45031280,4	MCF-7	breast:
6	chr21:44935195..44942837-chr21:45027341..45034401,13	MCF-7	breast:
7	chr21:44595703..44598660-chr21:45028207..45031192,2	MCF-7	breast:
8	chr21:45015645..45018360-chr21:45028060..45029988,2	MCF-7	breast:
9	chr21:44847194..44850306-chr21:45028262..45031203,4	MCF-7	breast:
10	chr21:44940137..44942720-chr21:45027959..45031843,3	MCF-7	breast:
11	chr21:44920414..44926751-chr21:45027970..45034874,9	MCF-7	breast:
12	chr21:44933239..44939119-chr21:45027942..45032046,11	MCF-7	breast:
13	chr21:44929924..44933951-chr21:45027796..45029708,3	MCF-7	breast:
14	chr21:44919342..44924591-chr21:45027154..45033706,9	MCF-7	breast:
15	chr1:204379769..204381859-chr21:45028455..45030497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158615	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10483077	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11089065	0.85[AFR][1000 genomes]
rs11908919	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11909195	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11909530	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11909813	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11909999	0.83[AFR][1000 genomes]
rs11910220	0.85[AFR][1000 genomes]
rs11910351	0.88[AFR][1000 genomes]
rs11910352	0.88[AFR][1000 genomes]
rs11911735	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11911856	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12106371	0.88[AFR][1000 genomes]
rs12106423	0.88[AFR][1000 genomes]
rs12106466	0.88[AFR][1000 genomes]
rs13339951	0.88[AFR][1000 genomes]
rs17004507	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17004580	0.88[AFR][1000 genomes]
rs17004581	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17004582	0.88[AFR][1000 genomes]
rs17004585	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17004586	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17004587	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17004589	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17004590	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7283618	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45017200-45029000	Weak transcription	Fetal Intestine Small	intestine
2	chr21:45021200-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:45021400-45029400	Weak transcription	Fetal Brain Female	brain
4	chr21:45024000-45029400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:45024200-45028800	Weak transcription	Fetal Heart	heart
6	chr21:45024200-45029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:45024400-45029400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:45024400-45030600	Enhancers	NHEK	skin
9	chr21:45025000-45029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:45025000-45029000	Weak transcription	Fetal Lung	lung
11	chr21:45025000-45029400	Weak transcription	NHLF	lung
12	chr21:45025000-45029600	Weak transcription	Fetal Brain Male	brain
13	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:45025200-45029400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:45025200-45029400	Weak transcription	Pancreas	Pancrea
17	chr21:45025200-45029400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr21:45025400-45029400	Weak transcription	Esophagus	oesophagus
19	chr21:45025600-45029400	Weak transcription	Right Ventricle	heart
20	chr21:45025600-45030400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:45025800-45029400	Weak transcription	Gastric	stomach
22	chr21:45025800-45029400	Weak transcription	Stomach Mucosa	stomach
23	chr21:45026000-45029400	Weak transcription	Brain Hippocampus Middle	brain
24	chr21:45026200-45029400	Enhancers	HepG2	liver
25	chr21:45026200-45029600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:45026200-45032200	Enhancers	HMEC	breast
27	chr21:45026400-45029400	Weak transcription	Placenta	Placenta
28	chr21:45026400-45029400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:45026600-45028800	Weak transcription	Adipose Nuclei	Adipose
30	chr21:45026600-45029000	Weak transcription	Colonic Mucosa	Colon
31	chr21:45026600-45029400	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:45026600-45029400	Weak transcription	Fetal Stomach	stomach
33	chr21:45026600-45029400	Weak transcription	Left Ventricle	heart
34	chr21:45026600-45029400	Weak transcription	Lung	lung
35	chr21:45026600-45029400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr21:45026600-45029400	Weak transcription	Right Atrium	heart
37	chr21:45026600-45029600	Weak transcription	Spleen	Spleen
38	chr21:45026600-45029800	Weak transcription	Fetal Thymus	thymus
39	chr21:45026800-45029400	Weak transcription	HUVEC	blood vessel
40	chr21:45026800-45031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:45027000-45029200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr21:45027000-45029400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr21:45027000-45029600	Weak transcription	HSMMtube	muscle
44	chr21:45027400-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr21:45027600-45028800	Enhancers	HSMM	muscle
46	chr21:45027600-45030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:45027800-45028800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr21:45027800-45030200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:45027800-45030200	Enhancers	Osteobl	bone
50	chr21:45028000-45029400	Enhancers	NH-A	brain

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