Variant report

Variant	rs72707282
Chromosome Location	chr1:178991455-178991456
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	chr1:178990585-178991490	PBDE	blood:	n/a	n/a
2	MXI1	chr1:178990903-178991529	SK-N-SH	brain:	n/a	n/a
3	MAX	chr1:178991066-178991457	MCF-7	breast:	n/a	chr1:178991192-178991205 chr1:178991194-178991203 chr1:178991193-178991204

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:178989917..178991482-chr1:179028410..179031384,2	K562	blood:
2	chr1:178989810..178992639-chr1:179050262..179052543,2	MCF-7	breast:

Variant related genes	Relation type
FAM20B	TF binding region
ENSG00000186283	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16853590	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16853612	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2018786	0.88[EUR][1000 genomes]
rs2147769	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766623	0.88[EUR][1000 genomes]
rs3766625	0.88[EUR][1000 genomes]
rs3766629	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3766630	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3766635	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55669440	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55699757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55854504	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55974004	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56006430	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56032836	0.88[EUR][1000 genomes]
rs56173043	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56209812	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56999658	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57601259	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58939863	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72707280	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72707281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72707287	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72707288	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72707292	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72707293	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72707294	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72707296	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72709419	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72709423	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72709424	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72709441	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72709445	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7527432	0.81[EUR][1000 genomes]
rs9249	0.88[EUR][1000 genomes]

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178986400-178994200	Weak transcription	Right Atrium	heart
2	chr1:178986400-178994200	Weak transcription	Spleen	Spleen
3	chr1:178986400-178994400	Weak transcription	Lung	lung
4	chr1:178986600-178994000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:178986800-178994200	Weak transcription	Liver	Liver
6	chr1:178987200-178994200	Weak transcription	Fetal Lung	lung
7	chr1:178987400-178994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:178987400-178994200	Weak transcription	Left Ventricle	heart
9	chr1:178987400-178994400	Weak transcription	Fetal Stomach	stomach
10	chr1:178989200-178994600	Weak transcription	Esophagus	oesophagus
11	chr1:178989600-178992600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:178989600-178992600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:178989600-178993000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:178989600-178993000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:178989600-178994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:178989600-178994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:178989800-178994200	Weak transcription	Stomach Mucosa	stomach
18	chr1:178990400-178991800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:178990400-178993400	Enhancers	K562	blood
20	chr1:178990600-178991600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:178990600-178991800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:178990600-178991800	Enhancers	Fetal Heart	heart
23	chr1:178990800-178991600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:178991000-178991600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:178991000-178991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:178991000-178991600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:178991000-178991600	Enhancers	Brain Germinal Matrix	brain
28	chr1:178991000-178991600	Active TSS	Brain Hippocampus Middle	brain
29	chr1:178991000-178991600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:178991000-178991600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:178991000-178991600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:178991000-178991600	Active TSS	Rectal Smooth Muscle	rectum
33	chr1:178991000-178991600	Active TSS	Stomach Smooth Muscle	stomach
34	chr1:178991000-178991600	Flanking Active TSS	A549	lung
35	chr1:178991000-178991600	Flanking Active TSS	NHDF-Ad	bronchial
36	chr1:178991000-178991800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:178991000-178991800	Active TSS	Brain Anterior Caudate	brain
38	chr1:178991000-178992000	Flanking Active TSS	Osteobl	bone
39	chr1:178991200-178991600	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:178991200-178991600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:178991200-178991600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:178991200-178991600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:178991200-178991600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:178991200-178991600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr1:178991200-178991600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:178991200-178991600	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr1:178991200-178991600	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr1:178991200-178991600	Enhancers	Placenta	Placenta
49	chr1:178991200-178991600	Enhancers	Psoas Muscle	Psoas
50	chr1:178991200-178991600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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