Variant report

Variant	rs72708238
Chromosome Location	chr1:155985857-155985858
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	chr1:155985649-155986234	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:155985786-155985939	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155983401..155986299-chr1:155988939..155990731,3	MCF-7	breast:
2	chr1:155983213..155986390-chr1:156023154..156026638,4	K562	blood:
3	chr1:155983547..155986390-chr1:156023154..156026638,3	K562	blood:

Variant related genes	Relation type
SSR2	TF binding region
ENSG00000160803	Chromatin interaction
ENSG00000163479	Chromatin interaction
ENSG00000116586	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1111102	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11486142	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3820592	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59781317	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6427297	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72708239	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs915178	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155973800-155989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155976000-155989600	Strong transcription	Fetal Stomach	stomach
3	chr1:155976200-155988800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:155976600-155988400	Strong transcription	Liver	Liver
5	chr1:155976600-155988400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:155976600-155988600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:155976600-155988800	Strong transcription	Fetal Intestine Small	intestine
8	chr1:155976600-155989200	Strong transcription	Fetal Intestine Large	intestine
9	chr1:155976600-155989400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:155976800-155989400	Strong transcription	Fetal Thymus	thymus
11	chr1:155976800-155989600	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:155977200-155987000	Weak transcription	Fetal Heart	heart
13	chr1:155977200-155989200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:155978200-155986000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:155978200-155987000	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr1:155978200-155988200	Strong transcription	Colon Smooth Muscle	Colon
17	chr1:155978200-155988200	Strong transcription	Left Ventricle	heart
18	chr1:155978200-155988600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:155978200-155989000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:155978200-155989200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:155978200-155989200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:155978200-155989200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:155978200-155989200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:155978200-155989600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:155978200-155989600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:155978200-155989600	Strong transcription	Placenta	Placenta
27	chr1:155978400-155986800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:155978400-155987400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:155978400-155988000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:155978400-155988200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:155978400-155988200	Strong transcription	Primary T cells from cord blood	blood
32	chr1:155978400-155988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:155978400-155988200	Strong transcription	Ovary	ovary
34	chr1:155978400-155988200	Strong transcription	HSMM	muscle
35	chr1:155978400-155988600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:155978400-155988600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:155978400-155988600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:155978400-155989000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:155978400-155989000	Strong transcription	Brain Germinal Matrix	brain
40	chr1:155978400-155989200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:155978400-155989200	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr1:155978400-155989400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:155978400-155989400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:155978400-155989400	Strong transcription	NHEK	skin
45	chr1:155978400-155989600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:155978400-155989600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:155978400-155989600	Strong transcription	HSMMtube	muscle
48	chr1:155978400-155989600	Strong transcription	Osteobl	bone
49	chr1:155978600-155988400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:155978600-155988600	Strong transcription	Brain Angular Gyrus	brain

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