Variant report

Variant	rs2949324
Chromosome Location	chr7:101428464-101428465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101409801..101412739-chr7:101427565..101429421,3	MCF-7	breast:
2	chr7:101426789..101430300-chr7:101456743..101460658,3	MCF-7	breast:
3	chr7:101427247..101429572-chr7:101431090..101433945,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10228981	0.89[ASN][1000 genomes]
rs10247290	0.89[ASN][1000 genomes]
rs10258318	0.89[ASN][1000 genomes]
rs11975225	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11977362	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs11977381	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs11984246	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs17135758	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28416662	0.89[ASN][1000 genomes]
rs28419515	0.93[ASN][1000 genomes]
rs2906725	0.93[ASN][1000 genomes]
rs2906726	0.93[ASN][1000 genomes]
rs2906727	0.93[ASN][1000 genomes]
rs2906728	0.93[ASN][1000 genomes]
rs2906729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2906730	0.93[ASN][1000 genomes]
rs2906731	0.93[ASN][1000 genomes]
rs2906736	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906737	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2906738	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906739	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949326	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949327	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949329	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949332	0.93[ASN][1000 genomes]
rs2949333	0.93[ASN][1000 genomes]
rs2949334	0.93[ASN][1000 genomes]
rs2949335	0.93[ASN][1000 genomes]
rs2949336	0.93[ASN][1000 genomes]
rs2949337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2970475	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970476	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970481	0.93[ASN][1000 genomes]
rs2970484	0.93[ASN][1000 genomes]
rs2970485	0.93[ASN][1000 genomes]
rs2970486	0.93[ASN][1000 genomes]
rs2970487	0.93[ASN][1000 genomes]
rs2970488	0.93[ASN][1000 genomes]
rs2970490	0.93[ASN][1000 genomes]
rs2970491	0.93[ASN][1000 genomes]
rs2970492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4354243	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs56024574	0.80[ASN][1000 genomes]
rs56257366	0.80[ASN][1000 genomes]
rs57249325	0.97[EUR][1000 genomes]
rs57730474	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975182	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73400071	0.93[ASN][1000 genomes]
rs9691113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9691915	0.81[ASN][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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2949324	SERPINE1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101420000-101436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:101426000-101429000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:101426400-101428600	Enhancers	Fetal Brain Female	brain
4	chr7:101427000-101428600	Enhancers	Fetal Heart	heart
5	chr7:101427400-101428600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:101427600-101428600	Enhancers	HSMM	muscle
7	chr7:101428000-101428600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr7:101428200-101428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:101428200-101428600	Enhancers	Duodenum Mucosa	Duodenum
10	chr7:101428200-101428600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr7:101428400-101429000	Weak transcription	Right Atrium	heart
12	chr7:101428400-101429400	Enhancers	Fetal Brain Male	brain

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