Variant report

Variant	rs10916034
Chromosome Location	chr1:226952315-226952316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226925787..226928290-chr1:226950796..226952332,2	MCF-7	breast:
2	chr1:226928679..226930371-chr1:226951340..226954074,2	K562	blood:
3	chr1:226951528..226954320-chr1:226955883..226958265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143772	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10916036	0.94[ASN][1000 genomes]
rs11577480	0.80[ASN][1000 genomes]
rs11581975	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10916034	PSEN2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226947800-226954000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:226949000-226952600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:226949200-226957400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226949600-226952800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:226950200-226952600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr1:226950200-226952600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:226950200-226955400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:226950400-226952400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:226950400-226957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:226950800-226953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:226950800-226953800	Enhancers	Thymus	Thymus
12	chr1:226950800-226954200	Enhancers	Fetal Thymus	thymus
13	chr1:226951200-226952400	Enhancers	A549	lung
14	chr1:226951200-226952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:226951200-226952800	Enhancers	Hela-S3	cervix
16	chr1:226951200-226953000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:226951200-226953200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:226951200-226953200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:226951200-226954400	Enhancers	Osteobl	bone
20	chr1:226951400-226952600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:226951400-226952600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:226951400-226952600	Enhancers	HMEC	breast
23	chr1:226951400-226952800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:226951400-226952800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:226951400-226952800	Flanking Active TSS	GM12878-XiMat	blood
26	chr1:226951400-226953000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:226951400-226953000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:226951400-226953000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:226951400-226953000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:226951400-226953000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:226951400-226953200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:226951400-226953400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:226951400-226953400	Enhancers	NH-A	brain
34	chr1:226951400-226953600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:226951400-226954000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:226951400-226954000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:226951400-226954000	Enhancers	NHLF	lung
38	chr1:226951600-226952400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:226951600-226952400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:226951600-226953000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:226951600-226953200	Enhancers	Primary T cells from cord blood	blood
42	chr1:226951600-226953600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:226951600-226954000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:226951800-226953200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:226952000-226952400	Weak transcription	NHDF-Ad	bronchial
46	chr1:226952000-226952800	Enhancers	Duodenum Mucosa	Duodenum
47	chr1:226952000-226952800	Enhancers	NHEK	skin
48	chr1:226952000-226953200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:226952200-226952800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:226952200-226954400	Enhancers	HUES48 Cell Line	embryonic stem cell

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