Variant report

Variant	rs12188697
Chromosome Location	chr5:58274348-58274349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1400224	0.84[EUR][1000 genomes]
rs17291089	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17719258	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58265600-58276600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:58265800-58276200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:58266000-58287600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:58266800-58281200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:58267600-58280000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:58267600-58282600	Strong transcription	Primary T cells from cord blood	blood
7	chr5:58267800-58276000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:58268000-58278000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:58268000-58281800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:58268000-58288400	Weak transcription	Stomach Mucosa	stomach
11	chr5:58268200-58280400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:58268200-58287200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:58268400-58275400	Strong transcription	Fetal Thymus	thymus
14	chr5:58268400-58287400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:58268400-58294400	Weak transcription	NH-A	brain
16	chr5:58268600-58275600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:58268600-58279400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:58268600-58279600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:58268800-58275800	Strong transcription	HSMM	muscle
20	chr5:58268800-58280000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr5:58268800-58280200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr5:58268800-58286000	Weak transcription	HepG2	liver
23	chr5:58268800-58286600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:58268800-58286800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:58268800-58287200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:58268800-58287800	Weak transcription	Placenta	Placenta
27	chr5:58268800-58288800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:58268800-58294600	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:58269000-58279400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr5:58269200-58274400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:58269200-58279400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:58270000-58274400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:58270000-58274400	Strong transcription	Fetal Muscle Leg	muscle
34	chr5:58270000-58274400	Strong transcription	Psoas Muscle	Psoas
35	chr5:58270200-58297400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:58270400-58279200	Weak transcription	Fetal Kidney	kidney
37	chr5:58270800-58292600	Weak transcription	Fetal Brain Male	brain
38	chr5:58270800-58295800	Weak transcription	Small Intestine	intestine
39	chr5:58270800-58297000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:58271000-58277600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:58271000-58278000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:58271000-58282000	Genic enhancers	A549	lung
43	chr5:58271000-58283000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:58271000-58283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:58271000-58285800	Weak transcription	Aorta	Aorta
46	chr5:58271000-58285800	Weak transcription	Pancreas	Pancrea
47	chr5:58271000-58287600	Weak transcription	Esophagus	oesophagus
48	chr5:58271000-58293600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:58271000-58294600	Weak transcription	Brain Angular Gyrus	brain
50	chr5:58271600-58275000	Weak transcription	Adipose Nuclei	Adipose

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