Variant report

Variant	rs9974615
Chromosome Location	chr21:46577557-46577558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46494831..46496533-chr21:46576092..46578670,2	K562	blood:
2	chr21:46575522..46578364-chr21:46595077..46597721,2	K562	blood:
3	chr21:46574123..46577749-chr21:46583837..46588993,5	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9980873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9981906	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
4	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
6	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
7	chr21:46560800-46578600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr21:46560800-46586400	Weak transcription	Liver	Liver
9	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
10	chr21:46566000-46583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:46568400-46581400	Weak transcription	Gastric	stomach
12	chr21:46569000-46587000	Weak transcription	NHEK	skin
13	chr21:46570400-46582600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:46571000-46580000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:46571800-46580800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:46572000-46581000	Weak transcription	Fetal Brain Male	brain
17	chr21:46572000-46581200	Weak transcription	Lung	lung
18	chr21:46572000-46584000	Weak transcription	Ovary	ovary
19	chr21:46572000-46584000	Weak transcription	Stomach Mucosa	stomach
20	chr21:46572200-46595600	Weak transcription	Brain Germinal Matrix	brain
21	chr21:46572400-46579600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:46572400-46581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr21:46572400-46601000	Weak transcription	Fetal Brain Female	brain
24	chr21:46572800-46604800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr21:46573000-46582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr21:46573000-46588400	Weak transcription	Thymus	Thymus
27	chr21:46573600-46591800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:46573800-46586800	Weak transcription	Adipose Nuclei	Adipose
29	chr21:46574000-46579600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr21:46574200-46589200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr21:46574800-46580000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr21:46574800-46580600	Weak transcription	Fetal Heart	heart
33	chr21:46574800-46583600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:46575000-46577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:46575000-46581000	Weak transcription	Esophagus	oesophagus
36	chr21:46575000-46586400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:46575000-46587000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:46575000-46595600	Weak transcription	Dnd41	blood
39	chr21:46575000-46601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:46575200-46577600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:46575200-46578200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr21:46575200-46579600	Weak transcription	Aorta	Aorta
43	chr21:46575200-46581400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr21:46575200-46583600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:46575200-46586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:46575200-46587000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:46575400-46577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:46575400-46578000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:46575400-46580000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr21:46575400-46580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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