Variant report

Variant	rs74026021
Chromosome Location	chr16:70433592-70433593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70426372..70429310-chr16:70432406..70434780,2	K562	blood:
2	chr16:70425922..70428415-chr16:70432855..70435474,3	K562	blood:
3	chr16:70428201..70430288-chr16:70431851..70434209,2	MCF-7	breast:
4	chr16:70429611..70435094-chr16:70556538..70559513,5	K562	blood:
5	chr16:70411913..70419512-chr16:70432088..70435360,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157350	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11860625	0.83[AMR][1000 genomes]
rs17879102	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17879684	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17879964	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17882414	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17885495	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17886996	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55683684	0.84[AFR][1000 genomes]
rs55693362	0.87[AFR][1000 genomes]
rs56331609	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57326693	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58575154	0.84[AFR][1000 genomes]
rs58592676	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58684580	0.84[AFR][1000 genomes]
rs60165217	0.85[AFR][1000 genomes]
rs61466321	0.83[AFR][1000 genomes]
rs61610761	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026023	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026024	0.85[AFR][1000 genomes]
rs74026025	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026029	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026046	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026048	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8049316	0.83[AMR][1000 genomes]
rs8063675	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70415800-70442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70416000-70435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:70416000-70435600	Strong transcription	Fetal Stomach	stomach
4	chr16:70416000-70437600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:70416000-70438000	Weak transcription	Small Intestine	intestine
6	chr16:70416000-70438000	Weak transcription	HUVEC	blood vessel
7	chr16:70416200-70437000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:70416200-70437000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:70416400-70434600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:70422800-70441400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:70422800-70441600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:70424200-70434600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:70424400-70435400	Strong transcription	HepG2	liver
14	chr16:70424800-70434600	Strong transcription	Fetal Thymus	thymus
15	chr16:70426000-70437800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:70426400-70434800	Strong transcription	Thymus	Thymus
17	chr16:70426400-70437800	Weak transcription	NH-A	brain
18	chr16:70426600-70435400	Strong transcription	Fetal Muscle Leg	muscle
19	chr16:70426600-70435600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:70426600-70437000	Weak transcription	Osteobl	bone
21	chr16:70426600-70437800	Weak transcription	HSMM	muscle
22	chr16:70426600-70438000	Weak transcription	Right Atrium	heart
23	chr16:70427000-70435200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:70427400-70435000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:70428000-70437800	Weak transcription	HSMMtube	muscle
26	chr16:70428200-70435000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:70428400-70436800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr16:70428400-70442200	Weak transcription	Fetal Brain Male	brain
29	chr16:70428800-70450400	Weak transcription	Fetal Kidney	kidney
30	chr16:70429000-70434800	Genic enhancers	Placenta	Placenta
31	chr16:70429800-70434000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr16:70429800-70435800	Weak transcription	Colonic Mucosa	Colon
33	chr16:70429800-70436400	Weak transcription	A549	lung
34	chr16:70429800-70437000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:70429800-70437000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr16:70430200-70434800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr16:70430200-70434800	Strong transcription	Spleen	Spleen
38	chr16:70430400-70434800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:70430400-70435200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:70430600-70434800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr16:70430600-70435200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:70430600-70436400	Weak transcription	Hela-S3	cervix
43	chr16:70430600-70438000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:70430800-70435200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:70430800-70438000	Weak transcription	NHDF-Ad	bronchial
46	chr16:70431000-70434800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:70431200-70433600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:70431200-70434800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:70431200-70434800	Strong transcription	Adipose Nuclei	Adipose
50	chr16:70431200-70435000	Strong transcription	Primary monocytes fromperipheralblood	blood

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