Variant report

Variant	rs13847
Chromosome Location	chr21:45402820-45402821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45391227..45394196-chr21:45402468..45407272,4	K562	blood:
2	chr21:45400381..45403322-chr21:45403855..45406530,2	K562	blood:
3	chr21:45402810..45404680-chr21:45424122..45426021,2	MCF-7	breast:
4	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
5	chr21:45390949..45395215-chr21:45399667..45403680,4	K562	blood:
6	chr21:45400066..45403685-chr21:45432405..45434021,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2838459	0.82[JPT][hapmap]
rs2838463	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13847	MCM3APAS	cis	parietal	SCAN
rs13847	PKNOX1	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378200-45403800	Strong transcription	Dnd41	blood
2	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
3	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
5	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
7	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
8	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:45392000-45406800	Weak transcription	NHEK	skin
10	chr21:45393000-45405200	Weak transcription	HepG2	liver
11	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
12	chr21:45395400-45403800	Weak transcription	Fetal Kidney	kidney
13	chr21:45395400-45406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:45395600-45404200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:45395800-45405000	Strong transcription	Fetal Intestine Small	intestine
16	chr21:45395800-45405400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:45395800-45405600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:45396200-45404200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr21:45396600-45403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr21:45396600-45403600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr21:45396600-45403800	Strong transcription	Liver	Liver
22	chr21:45396600-45404200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:45396600-45404200	Strong transcription	Esophagus	oesophagus
24	chr21:45396600-45404200	Strong transcription	Thymus	Thymus
25	chr21:45396600-45404400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:45396600-45404800	Strong transcription	Fetal Stomach	stomach
27	chr21:45396800-45403600	Strong transcription	Fetal Intestine Large	intestine
28	chr21:45396800-45405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:45397000-45404200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr21:45397200-45403000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:45397200-45403000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr21:45397200-45403000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr21:45397200-45403200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:45397200-45403600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:45397200-45404000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:45397200-45404200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr21:45397200-45404200	Strong transcription	Left Ventricle	heart
38	chr21:45397200-45404200	Strong transcription	Lung	lung
39	chr21:45397600-45403800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr21:45397800-45403000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:45397800-45403200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:45397800-45403200	Strong transcription	Adipose Nuclei	Adipose
43	chr21:45397800-45404000	Strong transcription	Fetal Muscle Leg	muscle
44	chr21:45397800-45404000	Strong transcription	Placenta	Placenta
45	chr21:45397800-45404000	Strong transcription	Gastric	stomach
46	chr21:45397800-45404200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:45397800-45404200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr21:45397800-45404600	Strong transcription	Fetal Brain Female	brain
49	chr21:45398000-45403000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr21:45398000-45403200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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