Variant report

Variant	rs8179925
Chromosome Location	chr3:141619087-141619088
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	KAP1	chr3:141618919-141619468	HEK293	kidney:	n/a	n/a
2	POLR2A	chr3:141619039-141619592	K562	blood:	n/a	n/a
3	POLR2A	chr3:141618887-141619685	A549	lung:	n/a	n/a
4	ZNF143	chr3:141619005-141619384	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:141618648-141619622	K562	blood:	n/a	n/a
6	SETDB1	chr3:141618999-141619484	U2OS	brain:	n/a	n/a
7	POLR2A	chr3:141618957-141619318	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141612451..141614593-chr3:141618463..141620406,2	K562	blood:

Variant related genes	Relation type
ATP1B3	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1073464	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386355	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067998	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069329	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082115	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13086153	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1897139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35681935	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260404	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5013124	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8179994	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810380	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822066	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827902	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9836116	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9850595	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855878	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873028	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9878540	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141596400-141626400	Weak transcription	Pancreas	Pancrea
2	chr3:141597000-141625200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:141597000-141646400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:141597200-141625800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:141597800-141627000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:141598000-141619200	Weak transcription	Psoas Muscle	Psoas
7	chr3:141598000-141625400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:141598000-141626000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:141598000-141627000	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:141598000-141627200	Weak transcription	Colonic Mucosa	Colon
11	chr3:141598000-141642000	Weak transcription	Right Ventricle	heart
12	chr3:141598200-141626000	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:141598200-141627200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:141598200-141640200	Weak transcription	Fetal Brain Male	brain
15	chr3:141598200-141640200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:141598400-141622200	Weak transcription	Left Ventricle	heart
17	chr3:141598400-141623800	Weak transcription	NH-A	brain
18	chr3:141600600-141619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:141605200-141627200	Weak transcription	Primary T cells from cord blood	blood
20	chr3:141606200-141623600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:141606800-141625200	Weak transcription	HSMMtube	muscle
22	chr3:141607200-141623800	Weak transcription	HUVEC	blood vessel
23	chr3:141614000-141626000	Weak transcription	Fetal Lung	lung
24	chr3:141614200-141624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:141614800-141625200	Weak transcription	NHDF-Ad	bronchial
26	chr3:141615000-141619600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr3:141615000-141622200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:141615600-141619600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr3:141615800-141619200	ZNF genes & repeats	Dnd41	blood
30	chr3:141615800-141619600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:141615800-141619600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:141615800-141619600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr3:141615800-141619800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr3:141616200-141623600	Weak transcription	Aorta	Aorta
35	chr3:141616200-141623800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:141616200-141625800	Weak transcription	NHLF	lung
37	chr3:141616200-141627000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:141616200-141646600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:141616200-141648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:141616400-141622800	Weak transcription	HepG2	liver
41	chr3:141616400-141623800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:141616400-141626000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:141616800-141619600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:141616800-141627200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:141617200-141619600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr3:141617400-141619200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr3:141617400-141619600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr3:141617400-141619600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:141617400-141619600	ZNF genes & repeats	A549	lung
50	chr3:141617600-141619600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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