Variant report

Variant	rs12019957
Chromosome Location	chr13:97968001-97968002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:97905642..97908480-chr13:97965969..97968245,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1463791	0.83[CEU][hapmap]
rs9584552	0.87[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12019957	GPC5	cis	parietal	SCAN
rs12019957	GPR18	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97925800-97987200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr13:97933200-97970400	Weak transcription	Placenta	Placenta
3	chr13:97942800-97995200	Weak transcription	Thymus	Thymus
4	chr13:97948600-97971600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:97950000-97971200	Weak transcription	Stomach Mucosa	stomach
6	chr13:97954400-97986200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:97955000-97987000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:97955200-97968200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:97955200-97970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:97955200-97986800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:97955400-97971400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:97959000-97970400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:97959000-97971200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr13:97959200-97970400	Weak transcription	Small Intestine	intestine
15	chr13:97959400-97988800	Weak transcription	Fetal Intestine Large	intestine
16	chr13:97961000-97973800	Weak transcription	NHEK	skin
17	chr13:97961400-97975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:97961400-97987200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:97961600-97971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:97961600-97971200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:97961600-97975400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:97961800-97970400	Weak transcription	Fetal Kidney	kidney
23	chr13:97961800-97970400	Weak transcription	HSMM	muscle
24	chr13:97961800-97971000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:97961800-97975200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:97961800-97977600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:97961800-97978000	Weak transcription	HMEC	breast
28	chr13:97962000-97971000	Weak transcription	Gastric	stomach
29	chr13:97962000-97979200	Weak transcription	HUVEC	blood vessel
30	chr13:97962000-97991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:97962400-97971000	Weak transcription	NH-A	brain
32	chr13:97962400-97978200	Weak transcription	K562	blood
33	chr13:97962600-97971200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:97963000-97972600	Enhancers	Brain Substantia Nigra	brain
35	chr13:97963000-97984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:97963600-97977000	Weak transcription	Hela-S3	cervix
37	chr13:97964200-97970400	Weak transcription	A549	lung
38	chr13:97965000-97972600	Enhancers	Brain Hippocampus Middle	brain
39	chr13:97965200-97969600	Enhancers	Right Atrium	heart
40	chr13:97965200-97969800	Enhancers	Psoas Muscle	Psoas
41	chr13:97965200-97985800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:97965400-97968800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:97965600-97968600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr13:97965600-97969000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr13:97965600-97988800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr13:97965800-97969400	Enhancers	Ovary	ovary
47	chr13:97965800-97971600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:97965800-97987200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr13:97966000-97969200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:97966600-97968200	Weak transcription	Fetal Muscle Leg	muscle

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