Variant report

Variant	rs7622417
Chromosome Location	chr3:141625999-141626000
allele	C/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	MAFK	chr3:141625797-141626073	HepG2	liver:	n/a	chr3:141625922-141625933 chr3:141625921-141625936 chr3:141625921-141625932 chr3:141625921-141625932 chr3:141625924-141625941
2	MAFK	chr3:141625840-141626008	HepG2	liver:	n/a	chr3:141625922-141625933 chr3:141625921-141625936 chr3:141625921-141625932 chr3:141625921-141625932 chr3:141625924-141625941
3	MAFF	chr3:141625864-141626005	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141625787..141627994-chr3:141631487..141633848,2	K562	blood:

Variant related genes	Relation type
RNU6-509P	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1072982	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13076111	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1560412	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1560413	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2068229	0.82[CHB][hapmap]
rs2068230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2115937	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4441632	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4683645	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6440043	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6440044	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6440047	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6440049	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440050	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6767095	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6767302	0.83[EUR][1000 genomes]
rs6773700	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6790923	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7613107	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7639052	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9829502	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9859932	0.89[AMR][1000 genomes];0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7622417	ATP1B3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141596400-141626400	Weak transcription	Pancreas	Pancrea
2	chr3:141597000-141646400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:141597800-141627000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:141598000-141626000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:141598000-141627000	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:141598000-141627200	Weak transcription	Colonic Mucosa	Colon
7	chr3:141598000-141642000	Weak transcription	Right Ventricle	heart
8	chr3:141598200-141626000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:141598200-141627200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:141598200-141640200	Weak transcription	Fetal Brain Male	brain
11	chr3:141598200-141640200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:141605200-141627200	Weak transcription	Primary T cells from cord blood	blood
13	chr3:141614000-141626000	Weak transcription	Fetal Lung	lung
14	chr3:141616200-141627000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:141616200-141646600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr3:141616200-141648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:141616400-141626000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:141616800-141627200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:141618000-141633600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:141619400-141626400	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:141619400-141627200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:141619400-141641600	Weak transcription	Ovary	ovary
23	chr3:141619600-141626000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:141619600-141626000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:141619600-141626000	Weak transcription	Thymus	Thymus
26	chr3:141619600-141627000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:141619600-141628400	Weak transcription	Psoas Muscle	Psoas
28	chr3:141619600-141640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:141619600-141644000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:141619800-141626200	Weak transcription	Fetal Stomach	stomach
31	chr3:141619800-141633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:141620400-141641200	Weak transcription	Spleen	Spleen
33	chr3:141620600-141631600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:141620800-141626200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:141620800-141646800	Weak transcription	Gastric	stomach
36	chr3:141621000-141627200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:141621000-141646600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:141621000-141670800	Weak transcription	Small Intestine	intestine
39	chr3:141621200-141626000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:141621800-141627200	Weak transcription	Brain Anterior Caudate	brain
41	chr3:141622000-141645000	Strong transcription	Dnd41	blood
42	chr3:141622000-141647600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:141622200-141628600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr3:141622200-141628800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:141622200-141628800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:141622200-141630800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:141622200-141631400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:141622200-141631600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:141622400-141629400	Strong transcription	Hela-S3	cervix
50	chr3:141622400-141631600	Strong transcription	Fetal Intestine Small	intestine

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