Variant report

Variant	rs7009435
Chromosome Location	chr8:8945102-8945103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8943472..8945578-chr8:8953667..8955933,2	MCF-7	breast:
2	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
3	chr8:8944921..8946631-chr8:9007353..9010228,2	K562	blood:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10105813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11774267	0.94[ASN][1000 genomes]
rs11787026	1.00[CHB][hapmap]
rs12114954	1.00[CHB][hapmap]
rs17702602	1.00[CHB][hapmap]
rs34443356	0.89[EUR][1000 genomes]
rs4841097	1.00[JPT][hapmap]
rs6601280	1.00[CHB][hapmap]
rs6601288	1.00[ASN][1000 genomes]
rs6983877	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv518456	chr8:8939125-8948469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7009435	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
2	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
3	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:8938000-8945200	Weak transcription	Placenta	Placenta
5	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8938400-8945200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:8938400-8945200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:8938400-8945200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:8940000-8945200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:8940000-8945200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:8940000-8945200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:8940000-8945200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:8940000-8945400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:8940000-8950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:8940200-8945200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:8940400-8945200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:8940400-8945200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:8940400-8945200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:8940400-8945200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:8940400-8945200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:8940400-8945200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:8940400-8945200	Weak transcription	Adipose Nuclei	Adipose
23	chr8:8940400-8945200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:8940400-8945200	Weak transcription	GM12878-XiMat	blood
25	chr8:8940400-8945200	Weak transcription	HMEC	breast
26	chr8:8940400-8945400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:8940400-8945400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:8940400-8945400	Weak transcription	HSMM	muscle
29	chr8:8940400-8945600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:8940400-8945800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:8940400-8946000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:8940400-8951600	Weak transcription	Fetal Heart	heart
33	chr8:8940600-8945200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:8940600-8945200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:8940600-8945400	Weak transcription	NHDF-Ad	bronchial
36	chr8:8940800-8945200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:8940800-8945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:8940800-8945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:8941200-8945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:8942600-8945200	Weak transcription	NH-A	brain
41	chr8:8942600-8946200	Weak transcription	A549	lung
42	chr8:8942800-8945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:8942800-8945200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:8942800-8945200	Weak transcription	Osteobl	bone
45	chr8:8942800-8946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:8943400-8945200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:8944800-8945600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:8945000-8945200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:8945000-8945200	Enhancers	NHEK	skin
50	chr8:8945000-8945600	Enhancers	Primary hematopoietic stem cells	blood

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