Variant report

Variant	rs7276316
Chromosome Location	chr21:45029333-45029334
allele	A/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45028297..45030345-chr21:45061837..45063899,2	MCF-7	breast:
2	chr21:45014001..45016149-chr21:45027963..45031277,3	MCF-7	breast:
3	chr21:45005141..45010452-chr21:45028185..45033118,8	MCF-7	breast:
4	chr21:44907751..44909575-chr21:45027972..45030123,2	MCF-7	breast:
5	chr21:44997574..45001313-chr21:45028086..45031280,4	MCF-7	breast:
6	chr21:44935195..44942837-chr21:45027341..45034401,13	MCF-7	breast:
7	chr21:44595703..44598660-chr21:45028207..45031192,2	MCF-7	breast:
8	chr21:45015645..45018360-chr21:45028060..45029988,2	MCF-7	breast:
9	chr21:44847194..44850306-chr21:45028262..45031203,4	MCF-7	breast:
10	chr21:44940137..44942720-chr21:45027959..45031843,3	MCF-7	breast:
11	chr21:44920414..44926751-chr21:45027970..45034874,9	MCF-7	breast:
12	chr21:45019163..45020714-chr21:45029148..45031854,2	K562	blood:
13	chr21:44933239..44939119-chr21:45027942..45032046,11	MCF-7	breast:
14	chr21:44929924..44933951-chr21:45027796..45029708,3	MCF-7	breast:
15	chr21:44919342..44924591-chr21:45027154..45033706,9	MCF-7	breast:
16	chr1:204379769..204381859-chr21:45028455..45030497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158615	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1003280	0.92[ASN][1000 genomes]
rs1073522	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1122873	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12626757	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1378079	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1378080	0.93[ASN][1000 genomes]
rs141521	0.91[ASN][1000 genomes]
rs1454650	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1454651	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1584917	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1584918	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162343	0.82[ASN][1000 genomes]
rs162344	0.90[ASN][1000 genomes]
rs162345	0.90[ASN][1000 genomes]
rs162366	0.87[ASN][1000 genomes]
rs162367	0.83[ASN][1000 genomes]
rs162368	0.87[ASN][1000 genomes]
rs162369	0.88[ASN][1000 genomes]
rs162371	0.86[ASN][1000 genomes]
rs162372	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162373	0.84[ASN][1000 genomes]
rs162374	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162375	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162376	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162377	0.86[ASN][1000 genomes]
rs162378	0.85[ASN][1000 genomes]
rs162380	0.82[ASN][1000 genomes]
rs162381	0.82[ASN][1000 genomes]
rs162388	0.84[ASN][1000 genomes]
rs162389	0.87[ASN][1000 genomes]
rs162390	0.81[ASN][1000 genomes]
rs162391	0.85[ASN][1000 genomes]
rs162393	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162394	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs162395	0.87[ASN][1000 genomes]
rs162396	0.87[ASN][1000 genomes]
rs162398	0.87[ASN][1000 genomes]
rs162399	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162400	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162402	0.91[ASN][1000 genomes]
rs162403	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162404	0.89[ASN][1000 genomes]
rs167930	0.90[ASN][1000 genomes]
rs189094	0.88[ASN][1000 genomes]
rs2051407	0.82[EUR][1000 genomes]
rs229357	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230640	0.83[ASN][1000 genomes]
rs230642	0.83[ASN][1000 genomes]
rs230643	0.83[ASN][1000 genomes]
rs230646	0.83[ASN][1000 genomes]
rs230647	0.83[ASN][1000 genomes]
rs2329442	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838316	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838317	0.92[ASN][1000 genomes]
rs2838319	0.92[ASN][1000 genomes]
rs2838320	0.90[EUR][1000 genomes]
rs2838321	0.92[ASN][1000 genomes]
rs2838322	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838323	0.92[ASN][1000 genomes]
rs2838324	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838328	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838329	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838330	0.93[ASN][1000 genomes]
rs2838331	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28840140	0.87[ASN][1000 genomes]
rs3788062	0.92[ASN][1000 genomes]
rs463738	0.83[ASN][1000 genomes]
rs4818833	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4818843	0.92[ASN][1000 genomes]
rs4818850	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818856	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4819264	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819270	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4997353	0.86[ASN][1000 genomes]
rs6518301	0.92[ASN][1000 genomes]
rs6518302	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518309	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7275705	0.80[EUR][1000 genomes]
rs7276215	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7277539	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7279958	0.93[ASN][1000 genomes]
rs7282933	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8133523	0.81[EUR][1000 genomes]
rs86138	0.88[ASN][1000 genomes]
rs86139	0.88[ASN][1000 genomes]
rs91424	0.82[ASN][1000 genomes]
rs9306159	0.81[EUR][1000 genomes]
rs9976441	0.87[ASN][1000 genomes]
rs9978811	0.92[ASN][1000 genomes]
rs9980185	0.80[EUR][1000 genomes]
rs9981291	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9981790	0.87[ASN][1000 genomes]
rs9983763	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9984002	0.80[EUR][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	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	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45021200-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:45021400-45029400	Weak transcription	Fetal Brain Female	brain
3	chr21:45024000-45029400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:45024200-45029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:45024400-45029400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:45024400-45030600	Enhancers	NHEK	skin
7	chr21:45025000-45029400	Weak transcription	NHLF	lung
8	chr21:45025000-45029600	Weak transcription	Fetal Brain Male	brain
9	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:45025200-45029400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr21:45025200-45029400	Weak transcription	Pancreas	Pancrea
13	chr21:45025200-45029400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr21:45025400-45029400	Weak transcription	Esophagus	oesophagus
15	chr21:45025600-45029400	Weak transcription	Right Ventricle	heart
16	chr21:45025600-45030400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr21:45025800-45029400	Weak transcription	Gastric	stomach
18	chr21:45025800-45029400	Weak transcription	Stomach Mucosa	stomach
19	chr21:45026000-45029400	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:45026200-45029400	Enhancers	HepG2	liver
21	chr21:45026200-45029600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:45026200-45032200	Enhancers	HMEC	breast
23	chr21:45026400-45029400	Weak transcription	Placenta	Placenta
24	chr21:45026400-45029400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr21:45026600-45029400	Weak transcription	Fetal Muscle Leg	muscle
26	chr21:45026600-45029400	Weak transcription	Fetal Stomach	stomach
27	chr21:45026600-45029400	Weak transcription	Left Ventricle	heart
28	chr21:45026600-45029400	Weak transcription	Lung	lung
29	chr21:45026600-45029400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:45026600-45029400	Weak transcription	Right Atrium	heart
31	chr21:45026600-45029600	Weak transcription	Spleen	Spleen
32	chr21:45026600-45029800	Weak transcription	Fetal Thymus	thymus
33	chr21:45026800-45029400	Weak transcription	HUVEC	blood vessel
34	chr21:45026800-45031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:45027000-45029400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:45027000-45029600	Weak transcription	HSMMtube	muscle
37	chr21:45027400-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:45027600-45030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr21:45027800-45030200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:45027800-45030200	Enhancers	Osteobl	bone
41	chr21:45028000-45029400	Enhancers	NH-A	brain
42	chr21:45028000-45030200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:45028400-45029400	Enhancers	A549	lung
44	chr21:45028400-45029400	Weak transcription	NHDF-Ad	bronchial
45	chr21:45028600-45031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:45028600-45032800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:45028800-45030200	Enhancers	Adipose Nuclei	Adipose
48	chr21:45028800-45030800	Enhancers	Fetal Heart	heart
49	chr21:45028800-45032000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr21:45029000-45030200	Enhancers	Fetal Lung	lung

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