Variant report

Variant	rs60654199
Chromosome Location	chr3:141267295-141267296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141258583..141261925-chr3:141267067..141269903,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1493210	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16851483	0.91[ASN][1000 genomes]
rs2035935	0.84[ASN][1000 genomes]
rs2035936	0.84[ASN][1000 genomes]
rs2312193	0.81[ASN][1000 genomes]
rs2639997	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2640017	0.82[ASN][1000 genomes]
rs295299	0.82[ASN][1000 genomes]
rs295321	0.84[ASN][1000 genomes]
rs295324	0.84[ASN][1000 genomes]
rs34558081	0.90[ASN][1000 genomes]
rs3732869	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3806648	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3821709	0.90[ASN][1000 genomes]
rs4683610	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4683612	0.86[AMR][1000 genomes]
rs58025624	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73871847	0.82[ASN][1000 genomes]
rs7627774	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7627807	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006237	chr3:141227525-141300722	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1014365	chr3:141235379-141282615	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60654199	ZBTB38	cis	Whole Blood	GTEx
rs60654199	ZBTB38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141229400-141267400	Weak transcription	Fetal Heart	heart
2	chr3:141236200-141281600	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:141236400-141276000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:141236400-141301000	Weak transcription	Brain Substantia Nigra	brain
5	chr3:141236400-141306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:141236600-141275800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:141236600-141297000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:141236600-141299400	Weak transcription	Gastric	stomach
9	chr3:141237000-141299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:141242200-141274800	Weak transcription	Lung	lung
11	chr3:141243400-141299400	Weak transcription	Spleen	Spleen
12	chr3:141246000-141278400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:141249200-141274600	Weak transcription	Liver	Liver
14	chr3:141254600-141270800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:141254600-141294400	Weak transcription	Esophagus	oesophagus
16	chr3:141254800-141269000	Weak transcription	Brain Angular Gyrus	brain
17	chr3:141254800-141274000	Weak transcription	HepG2	liver
18	chr3:141254800-141274600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:141254800-141275000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:141254800-141291400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:141254800-141292200	Weak transcription	Left Ventricle	heart
22	chr3:141254800-141295200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:141254800-141299200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:141254800-141299400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:141254800-141299400	Weak transcription	Right Ventricle	heart
26	chr3:141254800-141319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:141255000-141274600	Weak transcription	Placenta	Placenta
28	chr3:141255200-141304800	Weak transcription	Ovary	ovary
29	chr3:141255200-141320000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:141255400-141277200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:141255400-141319200	Weak transcription	Aorta	Aorta
32	chr3:141257000-141300200	Weak transcription	Pancreas	Pancrea
33	chr3:141258600-141275000	Weak transcription	HMEC	breast
34	chr3:141260000-141276600	Weak transcription	Hela-S3	cervix
35	chr3:141260800-141276400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:141261000-141269800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:141261000-141270200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:141261400-141278600	Weak transcription	NHLF	lung
39	chr3:141262400-141270200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:141262600-141278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:141263000-141271200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:141263200-141268000	Weak transcription	HSMMtube	muscle
43	chr3:141263600-141292000	Weak transcription	Colonic Mucosa	Colon
44	chr3:141263800-141288800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:141264000-141267600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:141264000-141267800	Weak transcription	NHEK	skin
47	chr3:141264000-141268000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:141264000-141268200	Weak transcription	Fetal Brain Male	brain
49	chr3:141264000-141269000	Strong transcription	Dnd41	blood
50	chr3:141264000-141271400	Weak transcription	Adipose Nuclei	Adipose

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