Variant report

Variant	rs3747010
Chromosome Location	chr21:47953725-47953726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47951124..47955048-chr21:47957159..47961247,5	K562	blood:
2	chr21:47949927..47954811-chr21:47962745..47966393,6	K562	blood:

Variant related genes	Relation type
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1029262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[ASN][1000 genomes]
rs11089066	0.85[ASN][1000 genomes]
rs11089068	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11089069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11089071	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11089072	0.97[ASN][1000 genomes]
rs11089077	0.84[ASN][1000 genomes]
rs1123540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes]
rs12185864	0.85[ASN][1000 genomes]
rs12482279	0.89[ASN][1000 genomes]
rs12483081	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12483421	0.92[ASN][1000 genomes]
rs12626200	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12626961	0.97[ASN][1000 genomes]
rs12627331	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12627653	0.98[ASN][1000 genomes]
rs13047052	0.96[ASN][1000 genomes]
rs1977907	0.96[ASN][1000 genomes]
rs2012217	0.83[ASN][1000 genomes]
rs2032111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2051190	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[ASN][1000 genomes]
rs2070426	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2070434	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073374	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2073376	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[ASN][1000 genomes]
rs2073377	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[ASN][1000 genomes]
rs2073381	0.92[ASN][1000 genomes]
rs2186350	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2249970	0.92[ASN][1000 genomes]
rs2268522	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2300563	0.88[ASN][1000 genomes]
rs2330594	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2839257	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[ASN][1000 genomes]
rs2839261	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs2839265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes]
rs2839268	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2839270	0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs2839275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2839276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2839280	0.87[ASN][1000 genomes]
rs2839284	0.92[ASN][1000 genomes]
rs2839285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2839296	0.96[ASN][1000 genomes]
rs2839297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2839299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2839313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2839317	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34590323	0.96[ASN][1000 genomes]
rs34736293	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4267585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs4431027	0.98[ASN][1000 genomes]
rs4819256	0.85[ASN][1000 genomes]
rs59500178	0.81[ASN][1000 genomes]
rs59977673	0.97[ASN][1000 genomes]
rs62224256	0.82[ASN][1000 genomes]
rs62224257	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62224258	0.92[ASN][1000 genomes]
rs62225682	0.93[ASN][1000 genomes]
rs7279991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs762250	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs8132022	0.92[ASN][1000 genomes]
rs9789884	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9975345	0.84[ASN][1000 genomes]
rs9980536	0.91[YRI][hapmap]
rs9984247	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
2	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
3	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
4	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
5	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
6	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
7	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
10	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
11	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
12	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
13	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
14	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
15	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
16	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
17	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
18	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
19	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
20	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
21	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
22	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv1059466	chr21:47894705-48096945	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
25	nsv1061185	chr21:47901250-48096945	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
26	nsv1057566	chr21:47915583-48029698	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	n/a
27	nsv587999	chr21:47941916-48103851	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
28	nsv1058589	chr21:47948030-48091343	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3747010	DIP2A	Cis_1M	lymphoblastoid	RTeQTL
rs3747010	MCM3AP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47932000-47961400	Weak transcription	Fetal Brain Male	brain
2	chr21:47932200-47954000	Weak transcription	A549	lung
3	chr21:47932400-47954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:47932400-47957400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47933000-47967200	Weak transcription	Fetal Kidney	kidney
6	chr21:47938000-47953800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:47938000-47955800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr21:47939400-47953800	Weak transcription	Brain Germinal Matrix	brain
9	chr21:47939600-47955600	Weak transcription	Fetal Heart	heart
10	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
11	chr21:47944000-47956800	Weak transcription	K562	blood
12	chr21:47946600-47954600	Weak transcription	Stomach Mucosa	stomach
13	chr21:47947200-47975200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr21:47947400-47965600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:47947600-47967200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:47947600-47989000	Strong transcription	Dnd41	blood
17	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
18	chr21:47948000-47955600	Weak transcription	Right Atrium	heart
19	chr21:47948000-47960200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr21:47948000-47968400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr21:47948200-47955400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:47948400-47955600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:47948400-47971600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:47948600-47971400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
29	chr21:47948800-47955800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr21:47948800-47956200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr21:47948800-47969000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:47948800-47970400	Strong transcription	Placenta	Placenta
33	chr21:47948800-47979400	Strong transcription	Liver	Liver
34	chr21:47949000-47965000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:47949000-47965200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:47949000-47969000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr21:47949000-47979000	Strong transcription	Adipose Nuclei	Adipose
38	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:47949600-47962400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:47949600-47968600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr21:47949600-47970200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr21:47949800-47967800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:47950000-47954600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr21:47950000-47956000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:47950000-47957600	Strong transcription	HSMM	muscle
48	chr21:47950000-47965200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:47950000-47968800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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