Variant report

Variant	rs4687568
Chromosome Location	chr3:51577372-51577373
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51571099..51575370-chr3:51575946..51579805,7	K562	blood:
2	chr3:51553731..51555381-chr3:51577069..51579615,2	K562	blood:

Variant related genes	Relation type
ENSG00000164080	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1055429	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130293	0.88[AMR][1000 genomes]
rs11721253	0.88[AMR][1000 genomes]
rs4317086	0.81[AMR][1000 genomes]
rs4611808	0.84[AMR][1000 genomes]
rs4687569	0.83[AMR][1000 genomes]
rs4687721	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687734	0.84[AMR][1000 genomes]
rs6445791	0.81[AMR][1000 genomes]
rs6771081	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6787312	0.81[AMR][1000 genomes]
rs6793900	0.84[AMR][1000 genomes]
rs6809155	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7372658	0.88[AMR][1000 genomes]
rs9311469	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4687568	TEX264	cis	Esophagus Muscularis	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51573800-51577600	Weak transcription	Ovary	ovary
2	chr3:51573800-51577800	Weak transcription	Esophagus	oesophagus
3	chr3:51573800-51583200	Weak transcription	Aorta	Aorta
4	chr3:51573800-51594000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:51574000-51577600	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:51574000-51577600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:51574000-51577800	Weak transcription	Brain Germinal Matrix	brain
8	chr3:51574000-51577800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:51574000-51577800	Weak transcription	Pancreas	Pancrea
10	chr3:51574000-51578000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:51574000-51578000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:51574000-51578200	Weak transcription	Fetal Kidney	kidney
13	chr3:51574000-51578200	Weak transcription	Thymus	Thymus
14	chr3:51574000-51578400	Weak transcription	Spleen	Spleen
15	chr3:51574000-51578600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:51574000-51578600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:51574000-51578600	Weak transcription	Psoas Muscle	Psoas
18	chr3:51574000-51580600	Weak transcription	K562	blood
19	chr3:51574000-51583800	Weak transcription	Colonic Mucosa	Colon
20	chr3:51574000-51586800	Weak transcription	Brain Substantia Nigra	brain
21	chr3:51574000-51590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:51574000-51593800	Weak transcription	Right Ventricle	heart
23	chr3:51574000-51597000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:51574000-51600600	Weak transcription	Gastric	stomach
25	chr3:51574000-51615400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:51574000-51624800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:51574200-51577600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:51574200-51577600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:51574200-51578200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:51574200-51616400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:51574400-51578200	Weak transcription	A549	lung
32	chr3:51574400-51583800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:51574400-51593200	Weak transcription	Brain Angular Gyrus	brain
34	chr3:51574400-51613800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:51574600-51577600	Enhancers	HepG2	liver
36	chr3:51574600-51577800	Weak transcription	HMEC	breast
37	chr3:51574600-51577800	Weak transcription	NHDF-Ad	bronchial
38	chr3:51574600-51578200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:51574600-51579400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:51574600-51580400	Weak transcription	Fetal Heart	heart
41	chr3:51574600-51582200	Weak transcription	HUVEC	blood vessel
42	chr3:51574600-51583000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:51574600-51583000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:51574600-51584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:51574600-51586000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:51574600-51587400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:51574600-51590800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:51574600-51593200	Weak transcription	Brain Anterior Caudate	brain
49	chr3:51574600-51593200	Weak transcription	NHLF	lung
50	chr3:51574600-51593400	Weak transcription	HSMMtube	muscle

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