Variant report

Variant	rs372549
Chromosome Location	chr21:46574573-46574574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46492313..46496810-chr21:46570892..46575986,6	K562	blood:
2	chr21:46572501..46575304-chr21:46707867..46709984,3	K562	blood:
3	chr21:46571989..46575021-chr21:46580299..46583331,3	MCF-7	breast:
4	chr21:46572711..46575083-chr21:46683577..46685513,2	K562	blood:
5	chr21:46574123..46577749-chr21:46583837..46588993,5	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10222166	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11911460	0.83[ASN][1000 genomes]
rs12482954	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs12483020	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs12483279	0.92[JPT][hapmap]
rs12483288	0.83[ASN][1000 genomes]
rs12627065	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12627151	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13433524	0.89[ASN][1000 genomes]
rs1556316	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs1556318	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1556319	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17004734	0.92[JPT][hapmap]
rs17004739	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs17004743	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17004748	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2838774	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs2838776	0.82[CHB][hapmap]
rs2838786	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs2838789	0.92[JPT][hapmap]
rs2838792	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2838801	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2838802	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2838809	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838810	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838812	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838814	0.83[ASN][1000 genomes]
rs2838816	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3178603	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs367228	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs372173	0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs3746976	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3788155	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs3788156	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs3788163	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs3788164	0.92[JPT][hapmap]
rs3788169	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3788170	0.90[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs3788171	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs3788181	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs386528	0.86[JPT][hapmap]
rs390504	0.85[JPT][hapmap]
rs398023	0.89[ASN][1000 genomes]
rs406551	0.85[JPT][hapmap]
rs412626	0.85[JPT][hapmap]
rs412666	0.85[JPT][hapmap]
rs421643	0.86[JPT][hapmap]
rs423726	0.86[JPT][hapmap]
rs428870	0.85[JPT][hapmap]
rs431529	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs431666	0.86[JPT][hapmap]
rs431775	0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs437286	0.85[JPT][hapmap]
rs439884	0.85[JPT][hapmap]
rs442380	0.85[JPT][hapmap]
rs447656	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs454052	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs6518215	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6518216	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6518217	0.82[CEU][hapmap];0.83[ASN][1000 genomes]
rs6518218	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs66664884	0.83[ASN][1000 genomes]
rs66837495	0.83[ASN][1000 genomes]
rs7277143	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7279808	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7283317	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs731248	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs8129624	0.89[ASN][1000 genomes]
rs8129934	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs8130097	0.89[ASN][1000 genomes]
rs8130862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8132646	0.83[ASN][1000 genomes]
rs8132752	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs8134382	0.83[ASN][1000 genomes]
rs8134889	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs870145	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs870351	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs9653788	0.82[CEU][hapmap];0.89[ASN][1000 genomes]
rs9978240	0.89[ASN][1000 genomes]
rs9978543	0.83[ASN][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
2	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
3	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
6	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
8	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
9	chr21:46560800-46578600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:46560800-46586400	Weak transcription	Liver	Liver
11	chr21:46561400-46576000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
13	chr21:46563200-46576600	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:46566000-46583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:46568400-46581400	Weak transcription	Gastric	stomach
16	chr21:46569000-46587000	Weak transcription	NHEK	skin
17	chr21:46570400-46582600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:46570600-46575400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:46570600-46575400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:46570800-46575400	Enhancers	Fetal Muscle Leg	muscle
21	chr21:46571000-46580000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:46571400-46574600	Weak transcription	HMEC	breast
23	chr21:46571400-46575200	Enhancers	Primary B cells from peripheral blood	blood
24	chr21:46571400-46576200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr21:46571600-46575400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr21:46571600-46575400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:46571600-46575400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr21:46571600-46575400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr21:46571600-46575600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr21:46571600-46575600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:46571800-46575400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr21:46571800-46575400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr21:46571800-46576000	Weak transcription	Fetal Kidney	kidney
34	chr21:46571800-46577400	Weak transcription	Hela-S3	cervix
35	chr21:46571800-46580800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:46572000-46574600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:46572000-46574600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:46572000-46575000	Weak transcription	Left Ventricle	heart
39	chr21:46572000-46576000	Weak transcription	Fetal Lung	lung
40	chr21:46572000-46581000	Weak transcription	Fetal Brain Male	brain
41	chr21:46572000-46581200	Weak transcription	Lung	lung
42	chr21:46572000-46584000	Weak transcription	Ovary	ovary
43	chr21:46572000-46584000	Weak transcription	Stomach Mucosa	stomach
44	chr21:46572200-46574800	Enhancers	Primary B cells from cord blood	blood
45	chr21:46572200-46575400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr21:46572200-46595600	Weak transcription	Brain Germinal Matrix	brain
47	chr21:46572400-46574600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr21:46572400-46574600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr21:46572400-46574800	Weak transcription	Aorta	Aorta
50	chr21:46572400-46579600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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