Variant report

Variant	rs1625751
Chromosome Location	chr3:138212007-138212008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1082034	0.92[ASN][1000 genomes]
rs10935282	0.80[ASN][1000 genomes]
rs10935284	0.86[EUR][1000 genomes]
rs10935287	0.87[ASN][1000 genomes]
rs11709290	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11717771	0.88[ASN][1000 genomes]
rs12487652	0.86[ASN][1000 genomes]
rs12487694	0.92[ASN][1000 genomes]
rs12490633	0.86[ASN][1000 genomes]
rs12497070	0.86[ASN][1000 genomes]
rs12636910	0.87[ASN][1000 genomes]
rs13098789	0.92[ASN][1000 genomes]
rs1630766	0.82[EUR][1000 genomes]
rs1672927	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1672932	0.90[ASN][1000 genomes]
rs1672963	0.92[ASN][1000 genomes]
rs1673594	0.90[ASN][1000 genomes]
rs1673608	0.89[ASN][1000 genomes]
rs1673622	0.86[ASN][1000 genomes]
rs1679165	0.88[ASN][1000 genomes]
rs1679169	0.88[ASN][1000 genomes]
rs1720833	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086351	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280596	0.80[ASN][1000 genomes]
rs2607790	0.92[ASN][1000 genomes]
rs28719641	0.91[ASN][1000 genomes]
rs34416776	0.80[ASN][1000 genomes]
rs34607531	0.80[ASN][1000 genomes]
rs34878008	0.80[ASN][1000 genomes]
rs35471402	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35500947	0.89[ASN][1000 genomes]
rs35932955	0.84[ASN][1000 genomes]
rs3813264	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3884240	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4678265	0.86[EUR][1000 genomes]
rs4678266	0.99[ASN][1000 genomes]
rs4894389	0.92[ASN][1000 genomes]
rs497334	0.90[ASN][1000 genomes]
rs503922	0.85[ASN][1000 genomes]
rs529615	0.85[ASN][1000 genomes]
rs537210	0.91[ASN][1000 genomes]
rs542010	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs56394118	0.88[ASN][1000 genomes]
rs564800	0.92[ASN][1000 genomes]
rs582386	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs60371967	0.80[ASN][1000 genomes]
rs609797	0.90[ASN][1000 genomes]
rs612471	0.91[ASN][1000 genomes]
rs620035	0.92[ASN][1000 genomes]
rs6439809	0.96[ASN][1000 genomes]
rs6439810	0.93[ASN][1000 genomes]
rs656107	0.84[ASN][1000 genomes]
rs6762114	0.92[ASN][1000 genomes]
rs6763380	0.85[ASN][1000 genomes]
rs6771237	0.93[ASN][1000 genomes]
rs73229526	0.93[ASN][1000 genomes]
rs7626226	0.96[ASN][1000 genomes]
rs7645920	0.96[ASN][1000 genomes]
rs773443	0.86[ASN][1000 genomes]
rs773450	0.87[ASN][1000 genomes]
rs774011	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774012	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814022	0.92[ASN][1000 genomes]
rs9049	0.80[ASN][1000 genomes]
rs936316	0.89[ASN][1000 genomes]
rs9822037	0.96[ASN][1000 genomes]
rs9823182	0.93[ASN][1000 genomes]
rs9848938	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9855306	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879213	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv522517	chr3:138174523-138297982	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1625751	CEP70	cis	Muscle Skeletal	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:138207000-138223800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:138208400-138212200	Weak transcription	HSMM	muscle
4	chr3:138208400-138227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:138208600-138215000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:138208800-138213400	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:138209200-138218400	Weak transcription	Gastric	stomach
8	chr3:138209400-138212600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:138209400-138236800	Weak transcription	Aorta	Aorta
10	chr3:138209600-138212800	Weak transcription	HSMMtube	muscle
11	chr3:138209800-138212200	Weak transcription	NHLF	lung
12	chr3:138209800-138258600	Weak transcription	Primary T cells from cord blood	blood
13	chr3:138210000-138218400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:138210000-138230200	Weak transcription	Fetal Brain Male	brain
15	chr3:138210200-138215000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:138210200-138222000	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:138210400-138215200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:138210400-138218400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:138210400-138236800	Weak transcription	Brain Substantia Nigra	brain
20	chr3:138210400-138242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:138210800-138212400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:138210800-138212400	ZNF genes & repeats	Pancreas	Pancrea
23	chr3:138210800-138212400	ZNF genes & repeats	Thymus	Thymus
24	chr3:138210800-138212600	ZNF genes & repeats	Lung	lung
25	chr3:138210800-138212600	Enhancers	Psoas Muscle	Psoas
26	chr3:138210800-138213200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:138210800-138213200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr3:138210800-138214400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr3:138210800-138260600	Weak transcription	Colonic Mucosa	Colon
30	chr3:138211000-138212400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:138211000-138212600	Strong transcription	Fetal Stomach	stomach
32	chr3:138211000-138213000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr3:138211000-138213400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:138211000-138229400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:138211000-138231000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:138211000-138236600	Weak transcription	Spleen	Spleen
37	chr3:138211200-138212400	Strong transcription	Fetal Intestine Small	intestine
38	chr3:138211200-138212400	Strong transcription	Fetal Lung	lung
39	chr3:138211200-138212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:138211200-138212800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:138211200-138213200	Strong transcription	Dnd41	blood
42	chr3:138211200-138213600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:138211200-138213600	Strong transcription	Liver	Liver
44	chr3:138211200-138213600	Strong transcription	Fetal Thymus	thymus
45	chr3:138211200-138215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:138211200-138215000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr3:138211200-138215000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr3:138211200-138227200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:138211200-138260600	Weak transcription	Brain Angular Gyrus	brain
50	chr3:138211400-138212800	Strong transcription	Brain Inferior Temporal Lobe	brain

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