Variant report

Variant	rs74026046
Chromosome Location	chr16:70485298-70485299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70485245..70488072-chr16:70494392..70496535,2	K562	blood:
2	chr16:70411633..70414241-chr16:70483135..70485732,2	MCF-7	breast:
3	chr16:70470699..70474802-chr16:70480614..70486154,9	K562	blood:
4	chr16:70478789..70482346-chr16:70485019..70486977,3	K562	blood:
5	chr16:70413028..70417887-chr16:70485225..70490092,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240043	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000200153	Chromatin interaction
ENSG00000157350	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11860625	1.00[AMR][1000 genomes]
rs17879102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56331609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57326693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57525508	0.85[AMR][1000 genomes]
rs58592676	1.00[AMR][1000 genomes]
rs60939494	0.85[AMR][1000 genomes]
rs61610761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024201	0.83[AMR][1000 genomes]
rs74026021	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049316	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70478400-70487400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr16:70478800-70487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:70479400-70487400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr16:70481200-70487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:70481200-70487400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:70481200-70487400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:70481400-70487200	Weak transcription	K562	blood
8	chr16:70481400-70487400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:70481400-70487400	Weak transcription	Primary B cells from cord blood	blood
10	chr16:70482000-70487400	Weak transcription	GM12878-XiMat	blood
11	chr16:70484200-70487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr16:70484400-70485400	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr16:70484400-70486800	Weak transcription	HepG2	liver
14	chr16:70484600-70485400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:70484800-70485400	Enhancers	HUVEC	blood vessel
16	chr16:70485000-70485400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:70485000-70485400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:70485000-70485400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:70485000-70485400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:70485000-70485400	Enhancers	Stomach Smooth Muscle	stomach
21	chr16:70485000-70487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:70485000-70487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:70485200-70485400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr16:70485200-70485400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:70485200-70485400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr16:70485200-70485400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:70485200-70485400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:70485200-70485400	Enhancers	Adipose Nuclei	Adipose
29	chr16:70485200-70485400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr16:70485200-70485400	Flanking Active TSS	Ovary	ovary
31	chr16:70485200-70485400	Enhancers	Right Ventricle	heart
32	chr16:70485200-70487400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:70485200-70487400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:70485200-70487400	Weak transcription	Fetal Intestine Small	intestine
35	chr16:70485200-70487400	Weak transcription	HMEC	breast
36	chr16:70485200-70487600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:70485200-70487600	Weak transcription	Osteobl	bone
38	chr16:70485200-70487800	Weak transcription	Esophagus	oesophagus
39	chr16:70485200-70487800	Weak transcription	Right Atrium	heart

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