Variant report

Variant	rs7279968
Chromosome Location	chr21:45077398-45077399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr21:45077228-45077571	SK-N-MC	brain:	n/a	n/a
2	JUN	chr21:45077202-45077592	HUVEC	blood vessel:	n/a	n/a
3	GATA2	chr21:45077129-45077883	HUVEC	blood vessel:	n/a	n/a
4	MYC	chr21:45077312-45077590	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr21:45077125-45077597	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr21:45077183-45077637	HUVEC	blood vessel:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:
2	chr21:45077301..45079668-chr21:45138843..45140832,3	K562	blood:
3	chr21:45073951..45077594-chr21:45129226..45132110,3	MCF-7	breast:
4	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
5	chr21:45066747..45068464-chr21:45075146..45077942,2	MCF-7	breast:
6	chr21:45077212..45079990-chr21:45193841..45196934,5	MCF-7	breast:
7	chr21:44526256..44528655-chr21:45076981..45079726,2	MCF-7	breast:

No data

Variant related genes	Relation type
RRP1B	TF binding region
ENSG00000160201	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160214	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1003280	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1073522	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1122873	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs11701518	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs11909064	0.82[JPT][hapmap]
rs12627667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1378080	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs141521	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1454648	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1454650	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1454651	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs1584917	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1584918	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1598206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162343	0.93[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap]
rs162344	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs162345	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs162366	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs162367	0.81[CEU][hapmap];0.86[CHB][hapmap];0.89[YRI][hapmap]
rs162368	0.80[ASN][1000 genomes]
rs162371	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs162372	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs162375	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs162376	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs162377	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs162378	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs162379	0.85[CEU][hapmap]
rs162380	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs162381	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs162388	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap]
rs162389	0.80[ASN][1000 genomes]
rs162390	0.86[CHB][hapmap]
rs162394	0.81[ASN][1000 genomes]
rs162398	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap]
rs162399	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs162400	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs162402	0.82[ASN][1000 genomes]
rs162403	0.82[ASN][1000 genomes]
rs162404	0.80[ASN][1000 genomes]
rs167930	0.81[ASN][1000 genomes]
rs1836856	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs2051407	0.99[ASN][1000 genomes]
rs2155722	0.82[JPT][hapmap]
rs2236666	0.82[JPT][hapmap]
rs2246602	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250773	0.82[JPT][hapmap]
rs2251253	0.82[JPT][hapmap]
rs2282526	0.87[EUR][1000 genomes]
rs229357	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2298561	0.82[JPT][hapmap]
rs2298563	0.83[EUR][1000 genomes]
rs230640	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs230642	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs230645	0.93[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs230646	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2329442	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2329443	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838316	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2838317	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs2838318	0.96[CEU][hapmap]
rs2838319	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs2838320	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs2838321	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs2838323	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2838324	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2838325	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2838326	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2838328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838329	0.80[ASN][1000 genomes]
rs2838330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838331	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2838336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838337	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838338	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838339	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838340	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2838341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838342	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838344	0.82[JPT][hapmap]
rs2838348	0.82[JPT][hapmap]
rs2838350	0.82[JPT][hapmap]
rs2838351	0.82[JPT][hapmap]
rs2838353	0.85[CEU][hapmap]
rs28840140	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35110281	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788062	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs3819161	0.82[JPT][hapmap]
rs389278	0.86[CHB][hapmap]
rs4818843	0.83[EUR][1000 genomes]
rs4818850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4818855	0.80[EUR][1000 genomes]
rs4818856	0.86[ASN][1000 genomes]
rs4818858	0.82[JPT][hapmap]
rs4819212	0.87[CHB][hapmap]
rs4819219	0.87[CHB][hapmap]
rs4819270	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs4819284	0.84[EUR][1000 genomes]
rs58451308	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6518301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap]
rs6518302	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs6518309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6518310	0.89[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs7275705	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7276215	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7276633	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7277539	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7279958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7279959	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7282122	0.82[JPT][hapmap];0.84[YRI][hapmap]
rs7282933	0.86[ASN][1000 genomes]
rs7283362	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs762400	0.82[JPT][hapmap]
rs8129601	0.88[CEU][hapmap]
rs8131005	1.00[CEU][hapmap]
rs8131020	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs8131027	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs8133523	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs86139	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs91424	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9306159	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs969060	0.87[EUR][1000 genomes]
rs9974710	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9976441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9976443	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9978811	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap]
rs9980185	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9981291	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs9981790	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9983763	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9984002	0.80[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7279968	HSF2BP	cis	Lymphoblastoid	GTEx
rs7279968	HSF2BP	cis	multi-tissue	Pritchard

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
2	chr21:45065800-45078600	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:45066200-45077600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:45066600-45077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr21:45066600-45078200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr21:45066600-45078800	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:45066600-45078800	Weak transcription	Right Atrium	heart
8	chr21:45066600-45079000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:45066600-45079000	Weak transcription	Brain Substantia Nigra	brain
10	chr21:45066800-45078800	Weak transcription	Fetal Intestine Small	intestine
11	chr21:45067000-45077800	Weak transcription	Dnd41	blood
12	chr21:45067000-45078600	Weak transcription	HepG2	liver
13	chr21:45068400-45077600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:45072800-45077400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr21:45073600-45077600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:45074000-45078800	Weak transcription	K562	blood
17	chr21:45074800-45077800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:45074800-45079400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:45075200-45079000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:45075200-45079000	Weak transcription	A549	lung
21	chr21:45075400-45078800	Weak transcription	Osteobl	bone
22	chr21:45075600-45078600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:45075600-45078800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:45075600-45078800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:45075600-45078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:45075600-45078800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr21:45075600-45078800	Weak transcription	Liver	Liver
28	chr21:45075600-45078800	Weak transcription	Hela-S3	cervix
29	chr21:45075800-45077800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:45075800-45078600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:45075800-45079000	Weak transcription	NH-A	brain
32	chr21:45075800-45079000	Weak transcription	NHDF-Ad	bronchial
33	chr21:45076000-45078800	Weak transcription	HMEC	breast
34	chr21:45076000-45078800	Weak transcription	NHEK	skin
35	chr21:45076400-45077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr21:45076600-45079000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:45076800-45077400	Enhancers	HUVEC	blood vessel
38	chr21:45076800-45078600	Enhancers	Placenta	Placenta
39	chr21:45076800-45079000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr21:45076800-45079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:45077000-45077800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:45077000-45078800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr21:45077200-45077400	Enhancers	Brain Germinal Matrix	brain
44	chr21:45077200-45078200	Enhancers	Adipose Nuclei	Adipose
45	chr21:45077200-45078200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr21:45077200-45078400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr21:45077200-45079000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr21:45077200-45079000	Enhancers	Primary T helper cells fromperipheralblood	blood

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