Variant report

Variant	rs74026005
Chromosome Location	chr16:70368260-70368261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70365572..70369615-chr16:70370399..70374531,4	K562	blood:
2	chr16:70367181..70369957-chr16:70373031..70374921,2	K562	blood:
3	chr16:70356920..70359897-chr16:70366133..70369094,2	K562	blood:
4	chr16:70365124..70367009-chr16:70367397..70369284,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57281906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026003	1.00[AMR][1000 genomes]
rs74026004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026007	1.00[AMR][1000 genomes]
rs74026010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026014	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026020	1.00[AMR][1000 genomes]
rs74026028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
2	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
3	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:70348800-70370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:70348800-70371000	Strong transcription	Liver	Liver
11	chr16:70349400-70369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:70349400-70370600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:70349400-70371200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:70349400-70372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
16	chr16:70349800-70370400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:70349800-70372600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr16:70349800-70373200	Strong transcription	Fetal Stomach	stomach
19	chr16:70349800-70374600	Strong transcription	Fetal Muscle Leg	muscle
20	chr16:70350600-70369800	Strong transcription	Fetal Brain Female	brain
21	chr16:70352800-70373000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:70356600-70370600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr16:70356800-70370200	Strong transcription	Placenta	Placenta
24	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:70357800-70370200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:70359000-70370000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr16:70359000-70370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:70360000-70371000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:70360000-70373000	Strong transcription	Fetal Intestine Small	intestine
30	chr16:70361000-70369600	Strong transcription	Fetal Intestine Large	intestine
31	chr16:70361200-70369200	Strong transcription	HepG2	liver
32	chr16:70361200-70369400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:70361400-70369800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:70361400-70369800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:70362600-70369400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:70362800-70370600	Strong transcription	Spleen	Spleen
37	chr16:70363000-70369600	Strong transcription	Adipose Nuclei	Adipose
38	chr16:70363200-70369200	Strong transcription	Primary T cells from cord blood	blood
39	chr16:70363200-70369200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:70363200-70369200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr16:70363200-70369400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr16:70363200-70369400	Strong transcription	Brain Anterior Caudate	brain
43	chr16:70363200-70369400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr16:70363200-70369400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr16:70363200-70369600	Strong transcription	Lung	lung
46	chr16:70363200-70369800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr16:70363200-70370000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:70363200-70370600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:70363200-70370600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:70363200-70370600	Strong transcription	Brain Germinal Matrix	brain

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