Variant report

Variant	rs11848070
Chromosome Location	chr14:71507601-71507602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71496994..71499814-chr14:71507368..71509896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258930	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12435675	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS 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	11 gene(s)	inside rSNPs	diseases
9	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Alzheimer's disease (late onset)	22881374	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11848070	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs11848070	PCNX	cis	parietal	SCAN
rs11848070	PCNX	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71426000-71508800	Weak transcription	Psoas Muscle	Psoas
2	chr14:71445200-71510800	Weak transcription	Colonic Mucosa	Colon
3	chr14:71495800-71546200	Weak transcription	Stomach Mucosa	stomach
4	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:71498600-71510800	Weak transcription	Esophagus	oesophagus
6	chr14:71498800-71510800	Weak transcription	NHLF	lung
7	chr14:71499600-71540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:71502000-71513600	Weak transcription	HepG2	liver
9	chr14:71502200-71511000	Weak transcription	HMEC	breast
10	chr14:71503000-71526400	Weak transcription	Gastric	stomach
11	chr14:71503400-71510800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:71503400-71510800	Weak transcription	Pancreas	Pancrea
13	chr14:71503400-71511000	Weak transcription	Small Intestine	intestine
14	chr14:71503400-71524400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:71503400-71526600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:71503400-71527200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:71503600-71508800	Weak transcription	Brain Angular Gyrus	brain
18	chr14:71503600-71509000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:71503600-71510600	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:71503600-71510600	Weak transcription	Thymus	Thymus
21	chr14:71503600-71510600	Weak transcription	Hela-S3	cervix
22	chr14:71503600-71510800	Weak transcription	NHEK	skin
23	chr14:71503600-71519400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:71505800-71509000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:71505800-71511400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr14:71506000-71507800	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr14:71506000-71507800	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr14:71506000-71507800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:71506000-71508000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:71506000-71508000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr14:71506000-71508000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr14:71506000-71508600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:71506000-71508800	Strong transcription	HUVEC	blood vessel
34	chr14:71506000-71509200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:71506000-71509200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:71506000-71509400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:71506000-71509600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr14:71506000-71510000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:71506000-71510000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:71506000-71510000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr14:71506000-71510000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr14:71506000-71510000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr14:71506000-71510800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:71506000-71510800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr14:71506000-71511000	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr14:71506000-71511000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:71506000-71511000	ZNF genes & repeats	Fetal Lung	lung
48	chr14:71506000-71511200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr14:71506000-71511400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:71506000-71511600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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