Variant report

Variant	rs74026007
Chromosome Location	chr16:70375979-70375980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr16:70375954-70376240	K562	blood:	n/a	chr16:70376109-70376124 chr16:70376110-70376124 chr16:70376109-70376124 chr16:70376105-70376126 chr16:70376112-70376121 chr16:70376105-70376126 chr16:70376111-70376122
2	MEF2A	chr16:70375931-70376218	K562	blood:	n/a	chr16:70376109-70376124 chr16:70376110-70376124 chr16:70376109-70376124 chr16:70376105-70376126 chr16:70376112-70376121 chr16:70376105-70376126 chr16:70376111-70376122

No.	Distal block	Cell Line	Cell type
1	chr16:70322056..70324677-chr16:70375656..70378564,3	K562	blood:
2	chr16:70374148..70377902-chr16:70377991..70380820,4	K562	blood:
3	chr16:70374149..70377957-chr16:70378674..70382168,7	MCF-7	breast:
4	chr16:70359395..70361761-chr16:70375607..70377646,2	MCF-7	breast:
5	chr16:70373606..70376066-chr16:70379269..70380802,3	K562	blood:
6	chr16:70338862..70341028-chr16:70375885..70378298,2	MCF-7	breast:
7	chr16:70375788..70377818-chr16:70381402..70383532,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS-1	chr16:70375843-70376002	ENSG00000245206
2	lnc-AARS-1	chr16:70375843-70376002	ENSG00000261777.1
3	lnc-AARS-1	chr16:70375843-70376002	ENSG00000261777.1

Variant related genes	Relation type
DDX19A	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000168872	Chromatin interaction

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

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

rs_ID	r²[population]
rs57281906	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024189	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026004	1.00[AMR][1000 genomes]
rs74026005	1.00[AMR][1000 genomes]
rs74026010	1.00[AMR][1000 genomes]
rs74026014	1.00[AMR][1000 genomes]
rs74026020	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026028	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	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	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
3	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
2	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
4	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:70367000-70376000	Weak transcription	K562	blood
6	chr16:70368200-70380200	Weak transcription	Small Intestine	intestine
7	chr16:70368400-70379600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:70368400-70379800	Weak transcription	Hela-S3	cervix
9	chr16:70368800-70379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:70368800-70379800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:70368800-70379800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr16:70369000-70376000	Weak transcription	Psoas Muscle	Psoas
13	chr16:70369000-70379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:70369000-70379600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:70369000-70379600	Weak transcription	A549	lung
16	chr16:70369000-70379800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:70369000-70379800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:70369000-70379800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:70369000-70379800	Weak transcription	Aorta	Aorta
20	chr16:70369000-70379800	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:70369000-70379800	Weak transcription	Esophagus	oesophagus
22	chr16:70369000-70379800	Weak transcription	Fetal Kidney	kidney
23	chr16:70369000-70379800	Weak transcription	Fetal Lung	lung
24	chr16:70369000-70379800	Weak transcription	Gastric	stomach
25	chr16:70369000-70379800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:70369000-70379800	Weak transcription	HSMMtube	muscle
27	chr16:70369000-70379800	Weak transcription	NH-A	brain
28	chr16:70369000-70379800	Weak transcription	NHDF-Ad	bronchial
29	chr16:70369200-70379000	Weak transcription	HepG2	liver
30	chr16:70369200-70379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:70369200-70379600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr16:70369200-70379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr16:70369200-70379600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:70369200-70379600	Weak transcription	GM12878-XiMat	blood
35	chr16:70369200-70379600	Weak transcription	HMEC	breast
36	chr16:70369200-70379800	Weak transcription	Primary T cells from cord blood	blood
37	chr16:70369200-70379800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:70369200-70379800	Weak transcription	Brain Substantia Nigra	brain
39	chr16:70369400-70379200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:70369400-70379200	Weak transcription	Pancreas	Pancrea
41	chr16:70369400-70379600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:70369400-70379600	Weak transcription	Primary B cells from cord blood	blood
43	chr16:70369400-70379600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:70369400-70379600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr16:70369400-70379600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:70369400-70379600	Weak transcription	NHEK	skin
47	chr16:70369400-70379800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr16:70369400-70379800	Weak transcription	Brain Angular Gyrus	brain
49	chr16:70369400-70379800	Weak transcription	Brain Anterior Caudate	brain
50	chr16:70369400-70379800	Weak transcription	Colonic Mucosa	Colon

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