Variant report

Variant	rs889870
Chromosome Location	chr7:137652152-137652153
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137650809..137652670-chr7:137683631..137686274,2	K562	blood:
2	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
3	chr7:137650405..137652234-chr7:137652303..137653977,2	K562	blood:
4	chr7:137650568..137655149-chr7:137681332..137686254,5	K562	blood:
5	chr7:137635084..137637925-chr7:137650642..137652343,2	MCF-7	breast:
6	chr7:137650743..137652751-chr7:137656187..137658700,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10271679	0.83[AMR][1000 genomes]
rs274013	0.86[CHB][hapmap]
rs28538593	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35010113	1.00[ASN][1000 genomes]
rs35163763	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4728424	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4732276	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.92[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	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs889870	PTN	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137635200-137663400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:137639000-137654800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:137639400-137655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:137640000-137654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:137640600-137652400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:137642800-137652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:137643000-137652400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:137643600-137652200	Weak transcription	Liver	Liver
9	chr7:137643800-137654800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:137644000-137655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:137644200-137652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:137644200-137652200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:137644200-137652200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:137644200-137652200	Weak transcription	Stomach Mucosa	stomach
15	chr7:137644200-137653400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:137646600-137652200	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:137646600-137657600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:137647600-137653600	Enhancers	Placenta	Placenta
19	chr7:137647800-137652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:137648000-137652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:137648600-137652400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:137648600-137652600	Weak transcription	NHEK	skin
23	chr7:137648800-137653400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:137649200-137652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:137649800-137653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:137649800-137658000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:137650200-137652400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:137650200-137652800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:137650200-137654800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:137650200-137660200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:137650400-137652600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:137650400-137653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:137650400-137653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:137650400-137653000	Enhancers	Right Atrium	heart
35	chr7:137650400-137653600	Enhancers	Ovary	ovary
36	chr7:137650600-137652200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:137650600-137652800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:137650600-137652800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:137650600-137653200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:137650600-137653400	Enhancers	Pancreas	Pancrea
41	chr7:137650600-137656400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:137650800-137652200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr7:137650800-137652600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:137650800-137652600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:137650800-137652800	Enhancers	Brain Anterior Caudate	brain
46	chr7:137650800-137653000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:137650800-137653600	Enhancers	Osteobl	bone
48	chr7:137651000-137652200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:137651000-137653000	Enhancers	A549	lung
50	chr7:137651200-137652200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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