Variant report

Variant	rs2075674
Chromosome Location	chr7:100225031-100225032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100222720..100225673-chr7:100269427..100271412,2	K562	blood:
2	chr7:100181244..100182815-chr7:100224206..100225875,2	MCF-7	breast:
3	chr7:100209659..100211246-chr7:100224414..100227276,2	MCF-7	breast:
4	chr7:100223053..100226003-chr7:100238727..100241235,2	MCF-7	breast:
5	chr7:100223306..100225539-chr7:100484655..100487462,2	K562	blood:
6	chr7:100224003..100228660-chr7:100236463..100240188,8	K562	blood:
7	chr7:100222704..100226086-chr7:100226785..100232803,8	K562	blood:
8	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
9	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:
10	chr7:100200117..100203442-chr7:100221626..100226597,4	MCF-7	breast:
11	chr7:100224387..100228494-chr7:100301872..100304625,4	MCF-7	breast:
12	chr7:100080986..100083044-chr7:100224263..100226367,2	MCF-7	breast:
13	chr7:100222759..100227059-chr7:100284156..100289115,6	K562	blood:
14	chr7:100222858..100232262-chr7:100269297..100275934,19	MCF-7	breast:
15	chr7:100223129..100225922-chr7:100280230..100283135,2	MCF-7	breast:
16	chr7:100222479..100225299-chr7:100269623..100272327,3	MCF-7	breast:
17	chr7:100223071..100228603-chr7:100236890..100242224,6	K562	blood:
18	chr7:100222996..100226349-chr7:100227974..100233612,12	MCF-7	breast:
19	chr7:100203603..100205607-chr7:100224234..100225939,2	MCF-7	breast:
20	chr7:100208130..100210288-chr7:100223518..100226835,3	MCF-7	breast:
21	chr7:100221959..100226920-chr7:100226941..100232803,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166924	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000146828	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10487157	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953298	0.85[ASN][1000 genomes]
rs10953301	0.81[CHB][hapmap]
rs11520986	0.81[CHB][hapmap];0.90[MEX][hapmap]
rs11764045	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766643	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11767547	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770389	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770534	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11772667	0.83[AMR][1000 genomes]
rs11974395	0.81[CHB][hapmap];0.90[MEX][hapmap]
rs11979818	0.90[MEX][hapmap]
rs11983334	0.90[MEX][hapmap]
rs11983745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532878	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13227444	0.91[EUR][1000 genomes]
rs2075671	0.94[MEX][hapmap]
rs2075672	0.84[JPT][hapmap]
rs2231170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2231172	0.82[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes]
rs2272572	0.81[CHB][hapmap]
rs28584500	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41303510	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727459	0.81[CHB][hapmap];0.90[MEX][hapmap]
rs4729597	0.84[JPT][hapmap]
rs4729601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs4729602	0.81[CHB][hapmap];0.95[MEX][hapmap]
rs4729606	0.85[MEX][hapmap]
rs62482237	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62482238	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62482239	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62482242	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6958696	0.94[AMR][1000 genomes]
rs6969584	0.82[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6969697	0.82[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73156234	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73407376	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7385804	0.84[JPT][hapmap]
rs7457024	0.85[ASN][1000 genomes]
rs7786877	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7812123	0.82[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7812235	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
3	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
4	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
9	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2075674	PERQ1	cis	multi-tissue	Pritchard
rs2075674	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100211400-100230400	Weak transcription	Pancreas	Pancrea
2	chr7:100221600-100227200	Genic enhancers	Liver	Liver
3	chr7:100222200-100229600	Weak transcription	Hela-S3	cervix
4	chr7:100223000-100226000	Strong transcription	HepG2	liver
5	chr7:100223800-100225200	Flanking Active TSS	Dnd41	blood
6	chr7:100223800-100225400	Enhancers	Fetal Brain Male	brain
7	chr7:100224000-100225200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:100224000-100225200	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr7:100224200-100225200	Enhancers	Fetal Thymus	thymus
10	chr7:100224400-100225200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:100224400-100225200	Enhancers	Esophagus	oesophagus
12	chr7:100224400-100225200	Flanking Active TSS	GM12878-XiMat	blood
13	chr7:100224400-100225200	Transcr. at gene 5' and 3'	K562	blood
14	chr7:100224600-100225200	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:100224800-100225200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:100224800-100225200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr7:100224800-100225200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:100224800-100225200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:100224800-100225200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:100224800-100225400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr7:100224800-100225400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:100224800-100225400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:100224800-100225400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:100224800-100225400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:100224800-100225600	Enhancers	Primary T cells from cord blood	blood
26	chr7:100224800-100225600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:100224800-100226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:100224800-100229600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:100224800-100230400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:100224800-100230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:100224800-100230400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:100224800-100230600	Weak transcription	Brain Angular Gyrus	brain
33	chr7:100224800-100230600	Weak transcription	Gastric	stomach
34	chr7:100224800-100230600	Weak transcription	Right Atrium	heart
35	chr7:100224800-100230600	Weak transcription	Small Intestine	intestine
36	chr7:100225000-100225200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr7:100225000-100225200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr7:100225000-100225200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:100225000-100225200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:100225000-100225200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr7:100225000-100225200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:100225000-100225200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:100225000-100225200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:100225000-100225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:100225000-100225400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:100225000-100225400	Enhancers	Thymus	Thymus
47	chr7:100225000-100225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:100225000-100225600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:100225000-100225600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr7:100225000-100225800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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