Variant report

Variant	rs8127274
Chromosome Location	chr21:40280081-40280082
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40270467..40272211-chr21:40279287..40280872,2	MCF-7	breast:
2	chr21:40271835..40274806-chr21:40278210..40280286,3	K562	blood:
3	chr21:40221988..40225135-chr21:40277085..40280385,3	MCF-7	breast:
4	chr21:40191292..40193852-chr21:40279000..40281951,2	MCF-7	breast:
5	chr21:40276535..40278972-chr21:40279958..40281891,2	K562	blood:
6	chr21:40277912..40280277-chr21:40283584..40287294,3	K562	blood:
7	chr21:40173449..40180758-chr21:40275825..40282486,14	MCF-7	breast:
8	chr21:40277750..40280235-chr21:40298828..40301612,2	MCF-7	breast:
9	chr21:40223431..40225086-chr21:40277290..40280274,2	MCF-7	breast:
10	chr21:40249695..40251882-chr21:40278200..40280440,2	MCF-7	breast:
11	chr21:40274625..40276194-chr21:40279774..40282336,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234035	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17230954	1.00[CHB][hapmap]
rs17230961	1.00[CHB][hapmap]
rs2410062	1.00[CHB][hapmap]
rs2836715	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs2836717	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2836720	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2836724	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2836743	1.00[JPT][hapmap]
rs28508188	0.89[EUR][1000 genomes]
rs28817686	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28836833	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs467698	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs467806	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7279299	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40273800-40284800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:40276400-40280400	Weak transcription	Gastric	stomach
3	chr21:40277800-40280400	Enhancers	Fetal Stomach	stomach
4	chr21:40277800-40280400	Enhancers	Stomach Mucosa	stomach
5	chr21:40277800-40281200	Enhancers	Hela-S3	cervix
6	chr21:40277800-40287000	Enhancers	Left Ventricle	heart
7	chr21:40278000-40283400	Enhancers	Placenta	Placenta
8	chr21:40278400-40284800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:40278600-40280200	Enhancers	Fetal Intestine Large	intestine
10	chr21:40278600-40280200	Enhancers	HepG2	liver
11	chr21:40278600-40280600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:40278600-40281200	Enhancers	HMEC	breast
13	chr21:40278600-40282600	Enhancers	Spleen	Spleen
14	chr21:40278600-40283000	Enhancers	Fetal Intestine Small	intestine
15	chr21:40278600-40283600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr21:40278600-40284600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr21:40278600-40284800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:40278600-40285000	Enhancers	NHEK	skin
19	chr21:40278600-40285200	Enhancers	Right Ventricle	heart
20	chr21:40278800-40284400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:40279000-40280200	Enhancers	Colon Smooth Muscle	Colon
22	chr21:40279000-40280400	Weak transcription	Esophagus	oesophagus
23	chr21:40279000-40280800	Weak transcription	Ovary	ovary
24	chr21:40279000-40280800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr21:40279000-40281800	Weak transcription	Colonic Mucosa	Colon
26	chr21:40279400-40280600	Weak transcription	Lung	lung
27	chr21:40279400-40280800	Enhancers	Aorta	Aorta
28	chr21:40279400-40281600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:40279400-40282200	Weak transcription	HSMMtube	muscle
30	chr21:40279400-40284800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:40279600-40280200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:40279600-40280200	Enhancers	Stomach Smooth Muscle	stomach
33	chr21:40279600-40280600	Enhancers	Fetal Heart	heart
34	chr21:40279600-40280600	Weak transcription	Fetal Thymus	thymus
35	chr21:40279600-40280600	Weak transcription	Right Atrium	heart
36	chr21:40279600-40280800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:40279600-40280800	Enhancers	Duodenum Mucosa	Duodenum
38	chr21:40279600-40280800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr21:40279600-40280800	Weak transcription	Pancreas	Pancrea
40	chr21:40279600-40281200	Weak transcription	Fetal Muscle Leg	muscle
41	chr21:40279600-40281600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:40279600-40282400	Weak transcription	HSMM	muscle
43	chr21:40279600-40282600	Weak transcription	Psoas Muscle	Psoas
44	chr21:40279600-40282800	Enhancers	Small Intestine	intestine
45	chr21:40279600-40283400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr21:40279600-40285600	Weak transcription	Fetal Kidney	kidney
47	chr21:40279800-40280200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:40279800-40282200	Weak transcription	A549	lung
49	chr21:40279800-40282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr21:40279800-40282600	Weak transcription	Liver	Liver

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