Variant report

Variant	rs8130074
Chromosome Location	chr21:46498684-46498685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46497573-46503113	IMR90	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46498367..46500555-chr21:46536986..46539536,2	K562	blood:
2	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
3	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
4	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
5	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
6	chr21:46425775..46427394-chr21:46498678..46501508,2	MCF-7	breast:
7	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
8	chr21:46497598..46499746-chr21:46541735..46543969,2	K562	blood:
9	chr21:46497932..46499867-chr21:46537196..46539536,2	K562	blood:
10	chr1:149856845..149859148-chr21:46498325..46501015,2	MCF-7	breast:

No data

Variant related genes	Relation type
SSR4P1	TF binding region
ENSG00000273027	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2838771	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838773	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs400140	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs414743	0.96[ASN][1000 genomes]
rs4819027	0.93[ASN][1000 genomes]
rs9977825	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46495600-46500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:46495600-46501400	Weak transcription	Gastric	stomach
3	chr21:46495800-46498800	Weak transcription	NH-A	brain
4	chr21:46495800-46501400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr21:46495800-46502600	Weak transcription	Colonic Mucosa	Colon
6	chr21:46495800-46506000	Weak transcription	Pancreas	Pancrea
7	chr21:46496200-46498800	Weak transcription	Right Ventricle	heart
8	chr21:46496200-46500000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr21:46496200-46501200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:46496200-46506600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:46496200-46511600	Weak transcription	Fetal Intestine Small	intestine
12	chr21:46496400-46499800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:46496400-46501000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr21:46496400-46501000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr21:46496400-46501200	Weak transcription	Brain Anterior Caudate	brain
16	chr21:46496400-46501600	Weak transcription	Small Intestine	intestine
17	chr21:46496400-46509000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr21:46496400-46509000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr21:46496400-46511400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr21:46496400-46511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46496400-46513000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr21:46496600-46498800	Weak transcription	Adipose Nuclei	Adipose
23	chr21:46496600-46498800	Weak transcription	NHEK	skin
24	chr21:46496600-46499600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr21:46496600-46500000	Enhancers	Primary B cells from cord blood	blood
26	chr21:46496600-46500200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:46496600-46500600	Weak transcription	Fetal Stomach	stomach
28	chr21:46496600-46500800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:46496600-46501000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr21:46496600-46501600	Weak transcription	Brain Angular Gyrus	brain
31	chr21:46496600-46511600	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:46496600-46512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:46496600-46516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:46496800-46499200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr21:46497000-46498800	Weak transcription	HSMMtube	muscle
36	chr21:46497000-46498800	Weak transcription	K562	blood
37	chr21:46497000-46499200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr21:46497000-46499200	Weak transcription	Fetal Heart	heart
39	chr21:46497000-46499200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr21:46497000-46500000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:46497000-46501000	Weak transcription	HepG2	liver
42	chr21:46497000-46501200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:46497000-46501200	Weak transcription	Fetal Lung	lung
44	chr21:46497000-46502000	Genic enhancers	HSMM	muscle
45	chr21:46497000-46504600	Weak transcription	Fetal Intestine Large	intestine
46	chr21:46497600-46499200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr21:46497600-46509200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr21:46497800-46499200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr21:46497800-46501200	Enhancers	HMEC	breast
50	chr21:46498000-46500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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