Variant report

Variant	rs4888100
Chromosome Location	chr16:80653077-80653078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80644852..80647194-chr16:80651034..80653293,2	MCF-7	breast:
2	chr16:80559928..80561785-chr16:80653051..80655923,2	MCF-7	breast:
3	chr16:80644284..80647227-chr16:80651769..80654073,2	K562	blood:
4	chr16:80649872..80653647-chr16:80673077..80676243,4	MCF-7	breast:
5	chr16:80650331..80653317-chr16:80787913..80789751,2	MCF-7	breast:
6	chr16:80653017..80657135-chr16:80751314..80754331,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166446	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1109546	0.92[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1109547	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1121651	0.94[EUR][1000 genomes]
rs12448290	0.86[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs13329877	0.93[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs13333767	0.86[CEU][hapmap]
rs13335153	0.93[EUR][1000 genomes]
rs2123279	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2123280	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2123281	0.98[ASN][1000 genomes]
rs4888101	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888102	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs4888103	1.00[ASN][1000 genomes]
rs4889166	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889167	0.94[CHB][hapmap];0.87[JPT][hapmap];0.98[ASN][1000 genomes]
rs4889168	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs4889169	0.93[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs4889170	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4889171	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4889172	0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs8057859	0.93[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes]
rs9927571	0.89[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1056083	chr16:80636184-80666779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063971	chr16:80640278-80663092	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1063761	chr16:80640278-80663665	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1055196	chr16:80647550-80672417	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1057562	chr16:80650768-80675842	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
2	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:80635400-80655600	Weak transcription	Brain Angular Gyrus	brain
4	chr16:80636800-80653600	Weak transcription	HSMMtube	muscle
5	chr16:80637000-80653400	Weak transcription	HSMM	muscle
6	chr16:80639800-80657400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:80640600-80662200	Weak transcription	Primary T cells from cord blood	blood
8	chr16:80640600-80662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:80643000-80654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
15	chr16:80645400-80657600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:80646000-80653600	Weak transcription	Fetal Intestine Large	intestine
17	chr16:80646000-80656000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:80646400-80657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr16:80646400-80662200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:80646400-80662200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:80646600-80653200	Weak transcription	Lung	lung
22	chr16:80646600-80654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:80646600-80657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
25	chr16:80647000-80665000	Weak transcription	Gastric	stomach
26	chr16:80648400-80653200	Weak transcription	Esophagus	oesophagus
27	chr16:80649200-80653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:80649400-80653400	Weak transcription	NHEK	skin
29	chr16:80649400-80654400	Strong transcription	Spleen	Spleen
30	chr16:80649600-80657800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:80649600-80658000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:80650000-80654200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:80650000-80655200	Strong transcription	Fetal Intestine Small	intestine
34	chr16:80650000-80661800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr16:80650400-80659800	Strong transcription	Hela-S3	cervix
36	chr16:80650800-80654400	Strong transcription	Liver	Liver
37	chr16:80650800-80656200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr16:80651000-80653600	Genic enhancers	Placenta	Placenta
39	chr16:80651400-80655400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:80651600-80654800	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:80652000-80653600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr16:80652200-80653200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr16:80652200-80655000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:80652400-80654600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:80652400-80654600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:80652600-80653600	Strong transcription	Fetal Stomach	stomach
47	chr16:80652600-80654000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr16:80652600-80654400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:80652600-80654800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:80652600-80654800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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