Variant report

Variant	rs9917493
Chromosome Location	chr21:45063854-45063855
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44928875..44931756-chr21:45061674..45064639,3	MCF-7	breast:
2	chr21:45061338..45063866-chr21:45074912..45076827,2	MCF-7	breast:
3	chr21:44936296..44939345-chr21:45062332..45065604,3	MCF-7	breast:
4	chr21:44595798..44598770-chr21:45063265..45067849,4	MCF-7	breast:
5	chr21:44845342..44848297-chr21:45062369..45064122,4	MCF-7	breast:
6	chr21:44934396..44939488-chr21:45063795..45068503,7	MCF-7	breast:
7	chr21:45028297..45030345-chr21:45061837..45063899,2	MCF-7	breast:
8	chr21:44557566..44559145-chr21:45061285..45063925,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10427514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10483077	0.83[AMR][1000 genomes]
rs10483078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11089090	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11908919	0.83[AMR][1000 genomes]
rs11909195	0.83[AMR][1000 genomes]
rs11909530	0.83[AMR][1000 genomes]
rs11909813	0.83[AMR][1000 genomes]
rs11909916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911293	0.91[AMR][1000 genomes]
rs11911735	0.83[AMR][1000 genomes]
rs11911856	0.83[AMR][1000 genomes]
rs17004507	0.83[AMR][1000 genomes]
rs17004581	0.83[AMR][1000 genomes]
rs17004585	0.83[AMR][1000 genomes]
rs17004586	0.83[AMR][1000 genomes]
rs17004587	0.83[AMR][1000 genomes]
rs17004589	0.83[AMR][1000 genomes]
rs17004590	0.83[AMR][1000 genomes]
rs17004592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004593	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28431406	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28782771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28852206	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7510543	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45049400-45064000	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:45052200-45065200	Weak transcription	Primary T cells from cord blood	blood
3	chr21:45053200-45065200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:45058800-45065600	Weak transcription	Right Atrium	heart
5	chr21:45059400-45064200	Weak transcription	Fetal Stomach	stomach
6	chr21:45060200-45064400	Weak transcription	NHDF-Ad	bronchial
7	chr21:45060200-45064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:45060200-45064600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:45060400-45064000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:45060400-45064000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:45060400-45064000	Weak transcription	Fetal Lung	lung
12	chr21:45060400-45064000	Weak transcription	Osteobl	bone
13	chr21:45060400-45064200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:45060400-45064200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:45060400-45064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:45060400-45064600	Weak transcription	Placenta	Placenta
17	chr21:45060400-45064600	Weak transcription	Small Intestine	intestine
18	chr21:45060400-45064600	Weak transcription	HMEC	breast
19	chr21:45060400-45065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr21:45060400-45065000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr21:45060400-45065200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr21:45060400-45065200	Weak transcription	Colonic Mucosa	Colon
23	chr21:45060400-45065200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr21:45060400-45065200	Weak transcription	Fetal Intestine Large	intestine
25	chr21:45060400-45065200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr21:45060400-45065200	Weak transcription	NHLF	lung
27	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
28	chr21:45060600-45064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:45060600-45064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:45060600-45064400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:45060800-45064000	Weak transcription	A549	lung
32	chr21:45060800-45064400	Weak transcription	HepG2	liver
33	chr21:45061000-45064400	Weak transcription	Hela-S3	cervix
34	chr21:45061400-45065600	Weak transcription	Stomach Mucosa	stomach
35	chr21:45062600-45064400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr21:45063200-45065600	Enhancers	Fetal Brain Female	brain
37	chr21:45063400-45065200	Weak transcription	Fetal Intestine Small	intestine
38	chr21:45063400-45066200	Enhancers	Fetal Brain Male	brain
39	chr21:45063400-45066400	Weak transcription	Fetal Kidney	kidney
40	chr21:45063400-45066600	Enhancers	HSMM	muscle
41	chr21:45063800-45064200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr21:45063800-45064200	Enhancers	HSMMtube	muscle
43	chr21:45063800-45066600	Enhancers	NHEK	skin

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