Variant report

Variant	rs16866369
Chromosome Location	chr2:179388994-179388995
allele	A/G
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	POLR2A	chr2:179388955-179389170	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr2:179387231-179389438	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:179314051..179317404-chr2:179386204..179389847,5	K562	blood:
2	chr2:179386627..179389310-chr2:179394176..179396606,2	MCF-7	breast:
3	chr2:179343391..179346043-chr2:179387218..179389955,4	K562	blood:
4	chr2:179386919..179391089-chr2:179391647..179398872,11	K562	blood:

Variant related genes	Relation type
TTN-AS1	TF binding region
ENSG00000237298	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000116095	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1007025	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12618265	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13005601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009158	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13029629	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13034990	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866358	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16866365	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866373	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16866397	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16866406	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288325	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288569	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303539	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2857265	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731748	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3731749	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3731751	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829747	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829748	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs744426	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7597154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179387200-179389400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:179387400-179389000	Active TSS	Brain Angular Gyrus	brain
3	chr2:179387400-179389000	Active TSS	Brain Hippocampus Middle	brain
4	chr2:179387400-179389000	Active TSS	Fetal Stomach	stomach
5	chr2:179387400-179389200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:179387400-179389200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:179387400-179389200	Active TSS	Brain Anterior Caudate	brain
8	chr2:179387400-179389200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:179387400-179389200	Active TSS	Ovary	ovary
10	chr2:179387400-179389200	Active TSS	NHLF	lung
11	chr2:179387400-179389400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:179387400-179389400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:179387400-179389400	Active TSS	Brain Cingulate Gyrus	brain
14	chr2:179387400-179389400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:179387400-179389400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:179387400-179389400	Active TSS	HepG2	liver
17	chr2:179387400-179389600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:179387600-179389000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:179387600-179389000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:179387600-179389000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:179387600-179389000	Active TSS	Aorta	Aorta
22	chr2:179387600-179389000	Active TSS	Fetal Brain Female	brain
23	chr2:179387600-179389000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:179387600-179389200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:179387600-179389200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:179387600-179389200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:179387600-179389200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:179387600-179389200	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:179387600-179389200	Active TSS	NHDF-Ad	bronchial
30	chr2:179387600-179389400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:179387600-179389400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:179387600-179389400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:179387600-179389400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr2:179387600-179389400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr2:179387600-179389400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:179387600-179389400	Active TSS	Brain Germinal Matrix	brain
37	chr2:179387600-179389400	Active TSS	A549	lung
38	chr2:179387600-179389400	Active TSS	Hela-S3	cervix
39	chr2:179387600-179389400	Active TSS	HMEC	breast
40	chr2:179387800-179389000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr2:179387800-179389000	Active TSS	Psoas Muscle	Psoas
42	chr2:179387800-179389200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:179387800-179389200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:179387800-179389200	Active TSS	NHEK	skin
45	chr2:179387800-179389400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:179387800-179389400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:179387800-179389400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:179387800-179389400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:179387800-179389400	Active TSS	GM12878-XiMat	blood
50	chr2:179387800-179389400	Active TSS	HSMM	muscle

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