Variant report

Variant	rs7525102
Chromosome Location	chr1:165644237-165644238
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	GATA2	chr1:165643901-165644256	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165636460..165640030-chr1:165641604..165644830,4	K562	blood:

Variant related genes	Relation type
ENSG00000225272	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10157944	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10800124	0.85[ASN][1000 genomes]
rs10800125	0.85[ASN][1000 genomes]
rs10918232	0.85[ASN][1000 genomes]
rs10918233	0.83[ASN][1000 genomes]
rs12065621	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12069198	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12072628	0.82[ASN][1000 genomes]
rs12072634	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12080699	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12081903	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083091	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12083232	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12084651	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122497	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12123278	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1538113	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17417191	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17450889	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2176151	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297763	0.87[ASN][1000 genomes]
rs2348727	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2348728	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2348729	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3820362	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4646895	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646896	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646897	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56279704	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61800398	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61800420	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61800421	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6662419	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6669697	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683651	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683665	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683969	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7534437	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8133	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs884121	0.84[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	nsv946481	chr1:165639060-165646269	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165606200-165659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165618200-165652400	Strong transcription	Fetal Muscle Leg	muscle
3	chr1:165619200-165648800	Strong transcription	Liver	Liver
4	chr1:165619600-165653200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:165623400-165653000	Weak transcription	Stomach Mucosa	stomach
6	chr1:165628000-165646600	Strong transcription	Primary T cells from cord blood	blood
7	chr1:165628800-165646800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:165628800-165646800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:165629000-165653600	Strong transcription	Dnd41	blood
10	chr1:165629400-165652800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:165629400-165654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:165629400-165656000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:165629600-165654800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:165629800-165654800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:165630000-165654400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:165632200-165645400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:165632400-165649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:165633600-165651200	Weak transcription	Pancreas	Pancrea
19	chr1:165633600-165651400	Weak transcription	Gastric	stomach
20	chr1:165633800-165651000	Weak transcription	Small Intestine	intestine
21	chr1:165634400-165644600	Weak transcription	Fetal Brain Male	brain
22	chr1:165634400-165651800	Weak transcription	Fetal Heart	heart
23	chr1:165634600-165644800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:165635200-165647800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:165635800-165645600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:165635800-165648600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:165636000-165652400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:165637800-165645400	Weak transcription	Right Ventricle	heart
29	chr1:165637800-165645400	Weak transcription	Spleen	Spleen
30	chr1:165637800-165645400	Weak transcription	HSMMtube	muscle
31	chr1:165637800-165648600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:165637800-165649200	Weak transcription	Aorta	Aorta
33	chr1:165637800-165651200	Weak transcription	NHEK	skin
34	chr1:165637800-165653400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:165638000-165645400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:165638000-165645400	Weak transcription	Lung	lung
37	chr1:165638000-165647800	Weak transcription	HMEC	breast
38	chr1:165638000-165666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:165638200-165644600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:165638200-165645400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:165638400-165645400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:165638400-165648000	Weak transcription	HepG2	liver
43	chr1:165638600-165644600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:165638600-165644800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:165638600-165645400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:165638600-165647800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:165638600-165647800	Weak transcription	K562	blood
48	chr1:165638600-165649000	Weak transcription	Psoas Muscle	Psoas
49	chr1:165638600-165665400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:165638800-165644600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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