Variant report

Variant	rs34742635
Chromosome Location	chr21:15755182-15755183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15738236..15741206-chr21:15753262..15755404,2	K562	blood:
2	chr21:15754870..15757296-chr21:16435942..16438083,2	K562	blood:
3	chr21:15645251..15647400-chr21:15754351..15756122,2	K562	blood:

Variant related genes	Relation type
ENSG00000243064	Chromatin interaction
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17274128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822656	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[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	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv913403	chr21:15743387-15786271	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15753000-15756800	Active TSS	A549	lung
2	chr21:15753200-15756400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:15753200-15756600	Active TSS	Right Ventricle	heart
4	chr21:15753400-15756400	Active TSS	K562	blood
5	chr21:15753600-15756400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:15753600-15756800	Active TSS	Brain Germinal Matrix	brain
7	chr21:15753800-15756200	Active TSS	Brain Anterior Caudate	brain
8	chr21:15753800-15756400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:15753800-15756400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr21:15753800-15756600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr21:15753800-15756600	Active TSS	GM12878-XiMat	blood
12	chr21:15753800-15756600	Active TSS	NHLF	lung
13	chr21:15753800-15756800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr21:15753800-15756800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr21:15754000-15756400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:15754000-15756400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:15754000-15756600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr21:15754000-15756800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr21:15754200-15756400	Active TSS	Fetal Brain Female	brain
20	chr21:15754400-15755200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr21:15754400-15755200	Flanking Active TSS	Liver	Liver
22	chr21:15754400-15755200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr21:15754400-15755200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr21:15754400-15756200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:15754400-15756200	Active TSS	Pancreas	Pancrea
26	chr21:15754400-15756200	Active TSS	HSMMtube	muscle
27	chr21:15754400-15756400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr21:15754400-15756400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:15754400-15756400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:15754400-15756400	Active TSS	Colonic Mucosa	Colon
31	chr21:15754400-15756400	Active TSS	Ovary	ovary
32	chr21:15754400-15756600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr21:15754400-15756600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr21:15754400-15756600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:15754400-15756600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:15754400-15756600	Active TSS	Psoas Muscle	Psoas
37	chr21:15754400-15756800	Active TSS	Right Atrium	heart
38	chr21:15754600-15755200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr21:15754600-15755200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr21:15754600-15755200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr21:15754600-15755200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr21:15754600-15755200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr21:15754600-15755200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:15754600-15755200	Active TSS	HepG2	liver
45	chr21:15754600-15755400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr21:15754600-15756000	Active TSS	Stomach Mucosa	stomach
47	chr21:15754600-15756200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:15754600-15756200	Active TSS	Duodenum Mucosa	Duodenum
49	chr21:15754600-15756200	Active TSS	Fetal Muscle Leg	muscle
50	chr21:15754600-15756200	Active TSS	NHEK	skin

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