Variant report

Variant	rs10456044
Chromosome Location	chr6:25367710-25367711
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25366098..25368844-chr6:25396135..25397777,2	MCF-7	breast:
2	chr6:25367288..25370021-chr6:25385958..25387793,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10807003	0.85[JPT][hapmap]
rs11757140	0.93[ASW][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs13214013	0.81[JPT][hapmap]
rs13215347	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs1328264	0.81[JPT][hapmap]
rs186207	0.89[ASN][1000 genomes]
rs215012	0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs215015	0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2182931	0.81[JPT][hapmap]
rs2328880	0.81[JPT][hapmap]
rs2744235	0.80[ASW][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs2744236	0.81[CHB][hapmap]
rs4367376	0.81[JPT][hapmap]
rs716797	0.81[JPT][hapmap]
rs9379761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830612	chr6:25342408-25509758	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv601168	chr6:25346334-25393306	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10456044	PRSS16	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25360400-25367800	Weak transcription	Brain Germinal Matrix	brain
2	chr6:25360400-25369200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:25360800-25369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:25361000-25369200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:25361000-25369400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:25361000-25369400	Weak transcription	Left Ventricle	heart
7	chr6:25361000-25369800	Weak transcription	Brain Substantia Nigra	brain
8	chr6:25365800-25369200	Weak transcription	Fetal Brain Female	brain
9	chr6:25366200-25367800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:25366200-25368200	Enhancers	HMEC	breast
11	chr6:25366400-25367800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:25366400-25367800	Enhancers	NHEK	skin
13	chr6:25366400-25368000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:25366600-25368000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr6:25366600-25368400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr6:25366600-25368600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr6:25366600-25369600	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:25366600-25371800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:25366800-25368000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:25367000-25367800	Enhancers	Liver	Liver
21	chr6:25367000-25367800	Enhancers	A549	lung
22	chr6:25367000-25367800	Enhancers	NHLF	lung
23	chr6:25367000-25368000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:25367000-25368000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:25367000-25368000	Flanking Active TSS	Fetal Thymus	thymus
26	chr6:25367000-25368200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr6:25367000-25368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:25367000-25369600	Enhancers	Adipose Nuclei	Adipose
29	chr6:25367200-25367800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:25367200-25367800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr6:25367200-25367800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:25367200-25367800	Enhancers	Fetal Intestine Large	intestine
33	chr6:25367200-25367800	Enhancers	Hela-S3	cervix
34	chr6:25367200-25368000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:25367200-25368000	Active TSS	Primary B cells from cord blood	blood
36	chr6:25367200-25368000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:25367200-25368000	Enhancers	Small Intestine	intestine
38	chr6:25367200-25368200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:25367200-25368200	Flanking Active TSS	Dnd41	blood
40	chr6:25367200-25368400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:25367200-25368400	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:25367200-25368400	Enhancers	Stomach Mucosa	stomach
43	chr6:25367200-25368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:25367200-25369200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:25367200-25369600	Enhancers	Brain Anterior Caudate	brain
46	chr6:25367200-25370000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:25367200-25370800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr6:25367200-25370800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:25367200-25370800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:25367200-25370800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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