Variant report

Variant	rs7164196
Chromosome Location	chr15:42869986-42869987
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42869958..42872408-chr15:42873710..42876257,4	K562	blood:
2	chr15:42840090..42842755-chr15:42865653..42870684,5	K562	blood:
3	chr15:42867986..42870891-chr15:43024060..43026740,2	K562	blood:

Variant related genes	Relation type
ENSG00000180979	Chromatin interaction
ENSG00000137814	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12102204	1.00[EUR][1000 genomes]
rs12593511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12911561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1871156	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2244773	1.00[EUR][1000 genomes]
rs2289293	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2412716	1.00[EUR][1000 genomes]
rs2595935	1.00[EUR][1000 genomes]
rs28364379	1.00[EUR][1000 genomes]
rs28364398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364400	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364462	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364472	1.00[EUR][1000 genomes]
rs28364491	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364495	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364498	1.00[EUR][1000 genomes]
rs28364500	1.00[EUR][1000 genomes]
rs28364503	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364504	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364508	1.00[TSI][hapmap]
rs28364509	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364511	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364519	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364522	1.00[EUR][1000 genomes]
rs28364523	1.00[EUR][1000 genomes]
rs28364524	1.00[EUR][1000 genomes]
rs28364526	1.00[EUR][1000 genomes]
rs28364540	1.00[EUR][1000 genomes]
rs28364541	1.00[EUR][1000 genomes]
rs28364544	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28364557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364559	1.00[TSI][hapmap]
rs28489155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28745879	1.00[EUR][1000 genomes]
rs2899058	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3743002	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3803342	1.00[EUR][1000 genomes]
rs6493047	1.00[EUR][1000 genomes]
rs6493051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178396	1.00[EUR][1000 genomes]
rs7181940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183399	1.00[EUR][1000 genomes]
rs8036149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036993	1.00[EUR][1000 genomes]
rs8042603	1.00[EUR][1000 genomes]
rs8043033	1.00[EUR][1000 genomes]

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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7164196	EEF1A2	trans	lymphoblastoid	seeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42867400-42870200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr15:42868000-42870000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr15:42868200-42870400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:42868400-42873200	Weak transcription	Pancreas	Pancrea
5	chr15:42868600-42873400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:42868600-42873400	Weak transcription	Gastric	stomach
7	chr15:42868800-42870000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:42868800-42870000	Enhancers	Brain Anterior Caudate	brain
9	chr15:42868800-42870000	Enhancers	NH-A	brain
10	chr15:42868800-42870800	Enhancers	HSMM	muscle
11	chr15:42868800-42873200	Weak transcription	Lung	lung
12	chr15:42868800-42873200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:42868800-42873200	Weak transcription	Right Ventricle	heart
14	chr15:42868800-42873400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:42868800-42873400	Weak transcription	Spleen	Spleen
16	chr15:42869000-42870000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:42869000-42870000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:42869000-42870000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:42869000-42870000	Enhancers	Dnd41	blood
20	chr15:42869000-42870200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:42869000-42870200	Enhancers	Brain Hippocampus Middle	brain
22	chr15:42869000-42870200	Enhancers	Brain Substantia Nigra	brain
23	chr15:42869000-42870400	Enhancers	Fetal Muscle Leg	muscle
24	chr15:42869000-42870400	Enhancers	Fetal Stomach	stomach
25	chr15:42869000-42871400	Enhancers	Brain Angular Gyrus	brain
26	chr15:42869000-42873000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:42869000-42873000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:42869000-42873000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:42869000-42873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr15:42869000-42873200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:42869000-42873200	Weak transcription	A549	lung
32	chr15:42869000-42873400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
34	chr15:42869200-42870000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr15:42869200-42870200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:42869200-42870200	Enhancers	Fetal Thymus	thymus
37	chr15:42869200-42870200	Enhancers	Ovary	ovary
38	chr15:42869200-42870400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:42869200-42870800	Enhancers	Brain Germinal Matrix	brain
40	chr15:42869200-42870800	Enhancers	Fetal Muscle Trunk	muscle
41	chr15:42869200-42870800	Enhancers	Rectal Smooth Muscle	rectum
42	chr15:42869200-42870800	Weak transcription	Hela-S3	cervix
43	chr15:42869200-42873200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:42869200-42873200	Weak transcription	Primary T cells from cord blood	blood
45	chr15:42869200-42873200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:42869200-42873200	Weak transcription	Colonic Mucosa	Colon
47	chr15:42869200-42873200	Weak transcription	NHEK	skin
48	chr15:42869200-42873400	Enhancers	Fetal Heart	heart
49	chr15:42869200-42873400	Weak transcription	HMEC	breast
50	chr15:42869400-42870000	Enhancers	Primary hematopoietic stem cells	blood

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