Variant report

Variant	rs2125202
Chromosome Location	chr16:81521294-81521295
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81520681..81522605-chr16:81522755..81525287,2	MCF-7	breast:
2	chr16:81516881..81521971-chr16:81523389..81527475,7	MCF-7	breast:
3	chr16:81520528..81523163-chr16:81525818..81527534,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1471152	0.91[CHD][hapmap]
rs1471379	0.94[CHD][hapmap]
rs1966957	0.83[JPT][hapmap]
rs2927320	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2927324	0.94[CHD][hapmap];0.84[GIH][hapmap]
rs2966079	0.94[CHD][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2125202	PKD1L2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
4	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
5	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:81510400-81522400	Weak transcription	Fetal Brain Female	brain
8	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:81511400-81527000	Enhancers	Fetal Muscle Leg	muscle
10	chr16:81512400-81525000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:81514800-81522200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:81515000-81521400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:81515800-81523800	Enhancers	Brain Hippocampus Middle	brain
16	chr16:81516200-81525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:81516400-81521400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:81516400-81525800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:81516400-81525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr16:81516600-81521800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:81516600-81525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:81516800-81525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:81517000-81522800	Weak transcription	Brain Germinal Matrix	brain
24	chr16:81517000-81523000	Weak transcription	GM12878-XiMat	blood
25	chr16:81517200-81525600	Weak transcription	Small Intestine	intestine
26	chr16:81517400-81526400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:81517400-81526600	Weak transcription	Hela-S3	cervix
28	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr16:81517600-81523800	Enhancers	Brain Anterior Caudate	brain
30	chr16:81517600-81526800	Genic enhancers	A549	lung
31	chr16:81517800-81523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:81518000-81522400	Weak transcription	Primary B cells from cord blood	blood
33	chr16:81518000-81522400	Strong transcription	NHEK	skin
34	chr16:81518200-81525400	Weak transcription	HMEC	breast
35	chr16:81518200-81527000	Weak transcription	Thymus	Thymus
36	chr16:81518400-81522200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr16:81518400-81522200	Weak transcription	Placenta	Placenta
38	chr16:81518400-81525400	Enhancers	NHDF-Ad	bronchial
39	chr16:81518600-81522600	Weak transcription	Esophagus	oesophagus
40	chr16:81518800-81521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:81518800-81521600	Enhancers	Osteobl	bone
42	chr16:81519000-81522000	Enhancers	NH-A	brain
43	chr16:81519400-81521400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:81519400-81521400	Genic enhancers	Fetal Stomach	stomach
45	chr16:81519400-81522600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr16:81519400-81523200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:81519400-81523600	Enhancers	Brain Angular Gyrus	brain
48	chr16:81519400-81523800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr16:81519400-81523800	Enhancers	Ovary	ovary
50	chr16:81519400-81525400	Enhancers	Adipose Nuclei	Adipose

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