Variant report

Variant	rs8134178
Chromosome Location	chr21:45032152-45032153
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: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	chr21:44936376..44937297-chr21:45031478..45032290,2	MCF-7	breast:
2	chr21:45005141..45010452-chr21:45028185..45033118,8	MCF-7	breast:
3	chr21:44935195..44942837-chr21:45027341..45034401,13	MCF-7	breast:
4	chr21:45031815..45032449-chr21:45065002..45065650,2	MCF-7	breast:
5	chr21:45031420..45032369-chr21:45066264..45067165,6	K562	blood:
6	chr21:44920414..44926751-chr21:45027970..45034874,9	MCF-7	breast:
7	chr21:45031837..45032459-chr21:45044113..45044930,2	K562	blood:
8	chr21:45031421..45032366-chr21:45064813..45066113,4	K562	blood:
9	chr21:45029752..45032331-chr21:45036634..45039497,2	MCF-7	breast:
10	chr21:45009238..45012189-chr21:45029511..45032580,3	MCF-7	breast:
11	chr21:45031287..45033756-chr21:45044729..45047089,2	MCF-7	breast:
12	chr21:44919342..44924591-chr21:45027154..45033706,9	MCF-7	breast:
13	chr21:45005604..45007811-chr21:45030159..45032407,3	MCF-7	breast:
14	chr21:44961687..44963545-chr21:45030403..45032227,2	MCF-7	breast:
15	chr21:44926667..44929719-chr21:45029857..45032741,3	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17004573	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17004576	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17004583	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17004591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17004598	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2838332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788068	0.93[AMR][1000 genomes]
rs7277976	1.00[JPT][hapmap]
rs8128469	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs8128769	1.00[CHB][hapmap]
rs8132745	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45026200-45032200	Enhancers	HMEC	breast
2	chr21:45028600-45032800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:45029000-45033000	Enhancers	Fetal Intestine Small	intestine
4	chr21:45029200-45032200	Enhancers	Fetal Intestine Large	intestine
5	chr21:45029400-45032200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr21:45029400-45032200	Enhancers	Stomach Mucosa	stomach
7	chr21:45030200-45032400	Enhancers	HepG2	liver
8	chr21:45030200-45039400	Weak transcription	Right Atrium	heart
9	chr21:45030600-45032600	Weak transcription	Small Intestine	intestine
10	chr21:45030600-45042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:45030800-45032200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr21:45030800-45032200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr21:45030800-45035200	Enhancers	HSMMtube	muscle
14	chr21:45031000-45035200	Enhancers	Fetal Muscle Leg	muscle
15	chr21:45031200-45032200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:45031200-45032200	Enhancers	Colon Smooth Muscle	Colon
17	chr21:45031200-45032200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr21:45031200-45032200	Enhancers	Hela-S3	cervix
19	chr21:45031200-45033000	Enhancers	NH-A	brain
20	chr21:45031200-45033200	Enhancers	Fetal Muscle Trunk	muscle
21	chr21:45031200-45033400	Enhancers	Placenta	Placenta
22	chr21:45031200-45034400	Enhancers	Fetal Stomach	stomach
23	chr21:45031200-45035000	Enhancers	Fetal Lung	lung
24	chr21:45031200-45035600	Enhancers	HSMM	muscle
25	chr21:45031400-45032200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:45031400-45032200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr21:45031400-45032200	Enhancers	Adipose Nuclei	Adipose
28	chr21:45031400-45032200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:45031400-45032200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr21:45031400-45032200	Enhancers	Left Ventricle	heart
31	chr21:45031400-45032200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr21:45031400-45032200	Enhancers	Rectal Smooth Muscle	rectum
33	chr21:45031400-45032200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr21:45031400-45032200	Enhancers	Stomach Smooth Muscle	stomach
35	chr21:45031400-45032200	Flanking Active TSS	A549	lung
36	chr21:45031400-45032200	Enhancers	NHLF	lung
37	chr21:45031400-45032200	Enhancers	Osteobl	bone
38	chr21:45031400-45033200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr21:45031400-45033600	Enhancers	Duodenum Mucosa	Duodenum
40	chr21:45031400-45035000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:45031600-45032200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:45031600-45032200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:45031600-45032200	Enhancers	Brain Germinal Matrix	brain
44	chr21:45031600-45032200	Enhancers	Brain Hippocampus Middle	brain
45	chr21:45031600-45032200	Enhancers	Brain Substantia Nigra	brain
46	chr21:45031600-45032200	Enhancers	Fetal Heart	heart
47	chr21:45031600-45032200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr21:45031600-45032800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:45031600-45033200	Enhancers	K562	blood
50	chr21:45031800-45032400	Enhancers	GM12878-XiMat	blood

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