Variant report

Variant	rs762400
Chromosome Location	chr21:45113629-45113630
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45107878..45109544-chr21:45113438..45115396,2	K562	blood:
2	chr21:45112710..45114771-chr21:45122490..45125054,2	K562	blood:
3	chr21:45094040..45098097-chr21:45110651..45114479,4	K562	blood:
4	chr21:45113016..45114535-chr21:45136348..45138090,2	MCF-7	breast:
5	chr21:45112044..45114676-chr21:45194766..45197149,2	MCF-7	breast:
6	chr21:45112710..45116467-chr21:45117620..45123990,9	K562	blood:
7	chr21:45112896..45115809-chr21:45116596..45119120,4	K562	blood:
8	chr21:45112072..45115010-chr21:45208579..45210179,2	K562	blood:
9	chr21:45108288..45110846-chr21:45111912..45115557,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160214	Chromatin interaction
ENSG00000160213	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1003280	0.87[JPT][hapmap]
rs10211901	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1073522	0.87[JPT][hapmap]
rs10854486	0.80[EUR][1000 genomes]
rs11089093	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1122873	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs11700909	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11700913	0.96[EUR][1000 genomes]
rs11702544	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11909064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627667	0.87[JPT][hapmap]
rs13051953	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1378079	0.82[CHD][hapmap]
rs1378080	0.87[JPT][hapmap]
rs141521	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs1454648	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs1454650	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap]
rs1454651	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs1584917	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs1584918	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs1598206	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs162344	0.82[CHD][hapmap]
rs162345	0.80[JPT][hapmap]
rs162366	0.82[CHD][hapmap]
rs162371	0.80[JPT][hapmap]
rs162372	0.80[JPT][hapmap]
rs162375	0.82[CHD][hapmap];0.80[JPT][hapmap];0.84[TSI][hapmap]
rs162376	0.82[CHD][hapmap];0.80[JPT][hapmap];0.84[TSI][hapmap]
rs162377	0.82[CHD][hapmap];0.80[JPT][hapmap]
rs162378	0.80[JPT][hapmap]
rs162398	0.82[CHD][hapmap]
rs162400	0.82[CHD][hapmap];0.86[TSI][hapmap]
rs2006113	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2051407	0.87[EUR][1000 genomes]
rs2070533	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2155722	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186924	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2236665	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236667	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246602	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs2250773	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251253	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282526	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229357	0.87[JPT][hapmap]
rs2298561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2298562	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230642	0.82[CHD][hapmap]
rs2329442	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap]
rs2329593	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838316	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs2838317	0.87[JPT][hapmap]
rs2838319	0.87[JPT][hapmap]
rs2838320	0.92[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap]
rs2838321	0.87[JPT][hapmap]
rs2838323	0.87[JPT][hapmap]
rs2838324	0.87[JPT][hapmap]
rs2838328	0.87[JPT][hapmap]
rs2838330	0.87[JPT][hapmap]
rs2838331	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs2838336	0.82[JPT][hapmap]
rs2838337	0.87[JPT][hapmap]
rs2838338	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs2838339	0.81[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2838341	0.87[JPT][hapmap]
rs2838343	0.81[JPT][hapmap]
rs2838344	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838345	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838350	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838351	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838353	0.89[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838354	0.86[CHB][hapmap];0.93[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788062	0.87[JPT][hapmap]
rs3819161	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389278	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs4818850	0.87[JPT][hapmap]
rs4818858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818859	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4818860	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4818861	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819270	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs4819283	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819285	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819286	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819287	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819288	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819289	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819290	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819291	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819292	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4819293	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819294	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819295	0.93[JPT][hapmap]
rs4819296	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs6518301	0.87[JPT][hapmap]
rs6518302	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap]
rs6518309	0.86[JPT][hapmap]
rs6518310	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7276215	0.87[JPT][hapmap]
rs7276633	0.82[JPT][hapmap]
rs7277539	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs7279958	0.87[JPT][hapmap]
rs7279959	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7279968	0.82[JPT][hapmap]
rs7282122	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282405	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7283428	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8129601	0.85[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8131027	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs8131111	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8133276	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8133523	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs86139	0.80[JPT][hapmap]
rs914197	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs914198	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9306159	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs9306160	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969060	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9941787	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9976441	0.87[JPT][hapmap]
rs9977076	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9978811	0.87[JPT][hapmap]
rs9978858	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9980185	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs9981291	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap]
rs9981790	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs9982727	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9983670	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9983763	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs9984002	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active 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	36 gene(s)	inside rSNPs	diseases
3	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1066728	chr21:45089877-45131723	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs762400	HSF2BP	cis	multi-tissue	Pritchard
rs762400	HSF2BP	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
3	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
4	chr21:45082800-45116600	Strong transcription	Primary T cells from cord blood	blood
5	chr21:45086000-45117200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45088400-45117200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:45088600-45116400	Strong transcription	Dnd41	blood
8	chr21:45088600-45117000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr21:45088800-45118200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:45089000-45117000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:45089200-45115000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:45089200-45116000	Strong transcription	Fetal Thymus	thymus
15	chr21:45089200-45116200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr21:45089200-45117000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr21:45089200-45117200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:45089400-45116600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:45089600-45116400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:45089600-45116400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr21:45089800-45117000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr21:45089800-45117200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr21:45093800-45117000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr21:45094000-45117600	Strong transcription	Fetal Intestine Small	intestine
25	chr21:45094200-45116200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:45094600-45114600	Strong transcription	Brain Substantia Nigra	brain
27	chr21:45094600-45116200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr21:45094600-45116600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:45094600-45117200	Strong transcription	Fetal Stomach	stomach
30	chr21:45094800-45116400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:45094800-45117200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr21:45094800-45122000	Weak transcription	Right Atrium	heart
33	chr21:45095000-45115000	Strong transcription	Fetal Brain Female	brain
34	chr21:45095200-45116400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr21:45095400-45117000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr21:45099200-45116200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr21:45099600-45115400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr21:45100000-45114800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:45100000-45116400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr21:45100000-45116800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr21:45100000-45117200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:45100200-45117000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr21:45100400-45114800	Strong transcription	Lung	lung
44	chr21:45100400-45115000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr21:45100400-45116800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:45100600-45114600	Strong transcription	Fetal Intestine Large	intestine
47	chr21:45100600-45116600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:45100800-45117600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:45101200-45117200	Strong transcription	Liver	Liver
50	chr21:45101400-45116600	Strong transcription	Left Ventricle	heart

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