Variant report

Variant	rs17816027
Chromosome Location	chr21:40222549-40222550
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: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	chr21:40217862..40220675-chr21:40220912..40222796,2	K562	blood:
2	chr21:40177151..40178855-chr21:40221816..40223937,2	K562	blood:
3	chr21:40221988..40225135-chr21:40277085..40280385,3	MCF-7	breast:
4	chr21:40183745..40185634-chr21:40221836..40225935,3	K562	blood:
5	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
6	chr21:40184134..40185724-chr21:40220746..40223336,2	K562	blood:
7	chr21:40202074..40204721-chr21:40221926..40224763,2	MCF-7	breast:
8	chr21:40177532..40179419-chr21:40220518..40222692,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229986	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17230940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231059	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40219400-40223400	Weak transcription	Aorta	Aorta
4	chr21:40219400-40224000	Weak transcription	Esophagus	oesophagus
5	chr21:40219800-40225200	Weak transcription	Osteobl	bone
6	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
7	chr21:40220000-40224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40220000-40224400	Weak transcription	HMEC	breast
9	chr21:40220200-40223600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:40220400-40223400	Weak transcription	NHEK	skin
11	chr21:40220400-40224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr21:40220400-40225200	Weak transcription	NHDF-Ad	bronchial
13	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:40220600-40223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:40221200-40223800	Enhancers	HepG2	liver
16	chr21:40221200-40226400	Enhancers	HUVEC	blood vessel
17	chr21:40221200-40229000	Weak transcription	Left Ventricle	heart
18	chr21:40221400-40222800	Enhancers	Fetal Kidney	kidney
19	chr21:40221400-40225200	Weak transcription	Spleen	Spleen
20	chr21:40221600-40224600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:40221800-40223400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:40222200-40223000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:40222200-40223200	Weak transcription	Hela-S3	cervix
24	chr21:40222400-40222600	Enhancers	K562	blood
25	chr21:40222400-40223200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:40222400-40225200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:40222400-40225200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr21:40222400-40225600	Weak transcription	Fetal Muscle Leg	muscle
29	chr21:40222400-40228200	Weak transcription	Fetal Heart	heart

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