Variant report

Variant	rs367675
Chromosome Location	chr16:71314436-71314437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71310012..71312355-chr16:71312947..71314691,2	K562	blood:
2	chr16:71313544..71318343-chr16:71321289..71325664,12	K562	blood:
3	chr16:71314219..71316960-chr2:160471976..160473993,2	MCF-7	breast:
4	chr16:71313476..71316261-chr16:71330808..71332669,2	MCF-7	breast:
5	chr16:71019839..71022639-chr16:71314110..71316674,2	K562	blood:
6	chr16:71295134..71297255-chr16:71312109..71314891,2	K562	blood:

Variant related genes	Relation type
ENSG00000123636	Chromatin interaction
ENSG00000180917	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs108832	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs115998	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs121309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs171015	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235991	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236000	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs236001	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs236004	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs236013	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826247	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788541	0.84[JPT][hapmap]

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	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71290200-71317200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:71299000-71317200	Weak transcription	Aorta	Aorta
3	chr16:71301000-71318400	Weak transcription	Pancreas	Pancrea
4	chr16:71306600-71322600	Weak transcription	Small Intestine	intestine
5	chr16:71307000-71316200	Weak transcription	HSMM	muscle
6	chr16:71307000-71317000	Weak transcription	NHEK	skin
7	chr16:71307800-71316800	Weak transcription	Left Ventricle	heart
8	chr16:71307800-71318600	Weak transcription	Psoas Muscle	Psoas
9	chr16:71308400-71317000	Weak transcription	Dnd41	blood
10	chr16:71309200-71317200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:71310400-71318800	Weak transcription	Thymus	Thymus
12	chr16:71310800-71317000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr16:71311000-71316800	Weak transcription	Primary B cells from cord blood	blood
14	chr16:71311000-71317000	Weak transcription	Primary T cells from cord blood	blood
15	chr16:71311000-71317600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:71311200-71317000	Weak transcription	GM12878-XiMat	blood
17	chr16:71311200-71317400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:71311400-71316200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71311400-71316800	Weak transcription	K562	blood
20	chr16:71311400-71317000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:71312600-71315400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:71312600-71316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:71313400-71317200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr16:71313600-71317200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:71314000-71316800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:71314000-71317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:71314000-71317200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:71314400-71317000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:71314400-71317000	Weak transcription	Fetal Muscle Trunk	muscle

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