Variant report

Variant	rs62570971
Chromosome Location	chr9:15427188-15427189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15420915..15423147-chr9:15426389..15428949,2	K562	blood:
2	chr9:15420595..15424773-chr9:15424796..15433036,11	MCF-7	breast:
3	chr9:15420090..15425077-chr9:15425243..15430966,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164975	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10962016	0.81[EUR][1000 genomes]
rs16933296	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16933350	0.85[EUR][1000 genomes]
rs3087653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41268961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41306098	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59355275	0.80[EUR][1000 genomes]
rs59520337	0.85[EUR][1000 genomes]
rs62570966	0.88[EUR][1000 genomes]
rs62570967	0.88[EUR][1000 genomes]
rs62570969	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62570970	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62570972	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62570973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62570974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62570975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62570976	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62570980	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62570991	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62570992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62570993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62571001	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62571002	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62571003	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62571007	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62571008	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62571009	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62571011	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62571015	0.80[EUR][1000 genomes]
rs62571016	0.80[EUR][1000 genomes]
rs62571017	0.80[EUR][1000 genomes]
rs62571018	0.85[EUR][1000 genomes]
rs62571029	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62571033	0.80[EUR][1000 genomes]
rs62573013	0.88[EUR][1000 genomes]
rs62573015	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1030287	chr9:15332709-15458001	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv831520	chr9:15404866-15444447	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62570971	PSIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15423600-15434400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:15423600-15439000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:15424000-15427600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr9:15424000-15430200	Weak transcription	Small Intestine	intestine
5	chr9:15424000-15431000	Weak transcription	Psoas Muscle	Psoas
6	chr9:15424000-15443400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:15424000-15443600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:15424600-15427800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr9:15424600-15428400	Strong transcription	Fetal Thymus	thymus
10	chr9:15424600-15430400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:15424800-15427400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:15424800-15427400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr9:15424800-15427800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr9:15424800-15427800	Strong transcription	Placenta	Placenta
15	chr9:15424800-15428000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:15424800-15428400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr9:15424800-15428800	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:15424800-15430600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:15425000-15427200	Strong transcription	NH-A	brain
20	chr9:15425000-15427400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:15425000-15428600	Strong transcription	Fetal Stomach	stomach
22	chr9:15425000-15428600	Strong transcription	HSMM	muscle
23	chr9:15425000-15430000	Strong transcription	A549	lung
24	chr9:15425000-15430200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:15425000-15431800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr9:15425000-15437000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:15425200-15427400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:15425400-15427400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:15425400-15428800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:15425400-15433600	Weak transcription	Fetal Kidney	kidney
31	chr9:15425400-15439000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:15425600-15430200	Weak transcription	Stomach Mucosa	stomach
33	chr9:15425800-15431400	Strong transcription	HUVEC	blood vessel
34	chr9:15425800-15433800	Weak transcription	HSMMtube	muscle
35	chr9:15425800-15434000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr9:15426000-15430200	Weak transcription	Right Ventricle	heart
37	chr9:15426000-15430600	Weak transcription	Colonic Mucosa	Colon
38	chr9:15426200-15441800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:15426400-15427200	Strong transcription	Hela-S3	cervix
40	chr9:15426400-15427400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:15426400-15427400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr9:15426400-15427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:15426400-15427400	Weak transcription	Esophagus	oesophagus
44	chr9:15426400-15428000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:15426400-15428200	Enhancers	Primary B cells from cord blood	blood
46	chr9:15426400-15428400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:15426400-15430000	Weak transcription	Ovary	ovary
48	chr9:15426400-15430200	Weak transcription	Aorta	Aorta
49	chr9:15426400-15430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:15426400-15430800	Weak transcription	Liver	Liver

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