Variant report

Variant	rs601103
Chromosome Location	chr1:155628219-155628220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155614938..155616733-chr1:155625916..155628423,2	K562	blood:
2	chr1:155625229..155627200-chr1:155627769..155629453,2	K562	blood:
3	chr1:155627727..155629837-chr1:155664678..155666781,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2136918	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2175390	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348195	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs348198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs487216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4971094	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4971096	0.94[AFR][1000 genomes]
rs4971098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525240	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs536192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs589431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs602905	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs651905	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662116	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675983	0.97[AFR][1000 genomes]
rs7524742	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535114	1.00[MEX][hapmap]
rs9427221	0.82[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs601103	PAQR6	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155615400-155628600	Weak transcription	Right Ventricle	heart
2	chr1:155615600-155628400	Weak transcription	Left Ventricle	heart
3	chr1:155615600-155628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:155616400-155628800	Weak transcription	Small Intestine	intestine
5	chr1:155617000-155628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:155617800-155637000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:155618800-155628400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:155618800-155628400	Weak transcription	Fetal Lung	lung
9	chr1:155618800-155628800	Weak transcription	Colonic Mucosa	Colon
10	chr1:155618800-155631800	Weak transcription	K562	blood
11	chr1:155620800-155628400	Weak transcription	Psoas Muscle	Psoas
12	chr1:155621600-155628400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:155621600-155628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:155621800-155628400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:155621800-155628400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:155621800-155628800	Weak transcription	Aorta	Aorta
17	chr1:155622000-155628400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:155622000-155628400	Weak transcription	NH-A	brain
19	chr1:155622200-155628400	Weak transcription	NHLF	lung
20	chr1:155622400-155628400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:155622400-155628400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:155622400-155628800	Weak transcription	Stomach Mucosa	stomach
23	chr1:155623000-155628600	Weak transcription	NHEK	skin
24	chr1:155623200-155628400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:155623200-155630600	Weak transcription	Hela-S3	cervix
26	chr1:155625200-155628400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:155625200-155628400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:155625200-155628600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:155625400-155628400	Weak transcription	NHDF-Ad	bronchial
30	chr1:155625600-155628400	Weak transcription	Brain Anterior Caudate	brain
31	chr1:155625600-155628400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:155625600-155628600	Weak transcription	Brain Angular Gyrus	brain
33	chr1:155625600-155635400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:155626000-155628400	Weak transcription	Spleen	Spleen
35	chr1:155626000-155628800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:155626000-155628800	Weak transcription	Pancreas	Pancrea
37	chr1:155626200-155628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:155626600-155628400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:155626600-155628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:155626600-155628400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:155626600-155628400	Weak transcription	Dnd41	blood
42	chr1:155626600-155628600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:155626600-155641800	Weak transcription	Fetal Heart	heart
44	chr1:155626800-155628400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:155626800-155628600	Weak transcription	Gastric	stomach
46	chr1:155626800-155628600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:155627000-155628600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:155627000-155630400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:155627000-155630600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:155627000-155641000	Strong transcription	Fetal Stomach	stomach

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