Variant report

Variant	rs310132
Chromosome Location	chr1:153095367-153095368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153093442..153095730-chr14:51247802..51249662,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs310131	0.91[CEU][hapmap]
rs310133	0.84[AFR][1000 genomes]
rs381115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs382804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs432018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs441873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs485374	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs493631	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs495757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs498131	0.81[CEU][hapmap]
rs564211	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs635505	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv464017	chr1:153033406-153099345	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv547920	chr1:153033406-153099345	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1004168	chr1:153088209-153226033	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs310132	SPRR2C	cis	Esophagus Mucosa	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153092400-153095400	Weak transcription	Pancreas	Pancrea
2	chr1:153094200-153096000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:153094800-153095600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:153095000-153095400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:153095000-153095600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:153095000-153096000	Enhancers	HMEC	breast
7	chr1:153095200-153095400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:153095200-153095400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:153095200-153095400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:153095200-153095400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:153095200-153095400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:153095200-153095400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:153095200-153095400	Flanking Active TSS	Stomach Mucosa	stomach
14	chr1:153095200-153095600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:153095200-153095600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:153095200-153095800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:153095200-153095800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:153095200-153095800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:153095200-153095800	Enhancers	Ovary	ovary
20	chr1:153095200-153095800	Enhancers	K562	blood
21	chr1:153095200-153095800	Flanking Active TSS	NHEK	skin
22	chr1:153095200-153096000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:153095200-153096000	Enhancers	Fetal Kidney	kidney
24	chr1:153095200-153096000	Enhancers	Placenta	Placenta
25	chr1:153095200-153096000	Flanking Active TSS	Hela-S3	cervix
26	chr1:153095200-153097400	Enhancers	H1 Cell Line	embryonic stem cell

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