Variant report

Variant	rs7177179
Chromosome Location	chr15:40287982-40287983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12899649	1.00[ASN][1000 genomes]
rs12912442	1.00[ASN][1000 genomes]
rs12916007	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17722502	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17722526	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2412456	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515996	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67654473	1.00[ASN][1000 genomes]
rs71132133	0.98[AMR][1000 genomes];0.86[EUR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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 target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7177179	SRP14	Cis_1M	lymphoblastoid	RTeQTL
rs7177179	EIF2AK4	cis	Adipose Subcutaneous	GTEx
rs7177179	EIF2AK4	cis	Esophagus Muscularis	GTEx
rs7177179	EIF2AK4	cis	lung	GTEx
rs7177179	EIF2AK4	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
3	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:40262600-40293800	Weak transcription	Stomach Mucosa	stomach
8	chr15:40269000-40293200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40269000-40293200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:40269600-40295600	Weak transcription	Fetal Heart	heart
11	chr15:40276400-40295600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:40277600-40288000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:40277600-40288000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:40277600-40288400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:40277600-40294600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:40277600-40303600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:40277600-40303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:40277600-40304400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:40277800-40288000	Strong transcription	HMEC	breast
20	chr15:40277800-40288200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:40277800-40288400	Strong transcription	NH-A	brain
22	chr15:40277800-40288600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:40277800-40288800	Strong transcription	Placenta	Placenta
24	chr15:40277800-40288800	Strong transcription	Fetal Stomach	stomach
25	chr15:40277800-40290200	Strong transcription	Ovary	ovary
26	chr15:40277800-40290200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr15:40277800-40290800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr15:40277800-40290800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:40277800-40290800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:40277800-40291000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:40277800-40291200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:40277800-40291200	Strong transcription	Adipose Nuclei	Adipose
33	chr15:40277800-40291200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:40277800-40291400	Strong transcription	Primary T cells from cord blood	blood
35	chr15:40277800-40291400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:40277800-40291400	Strong transcription	Fetal Intestine Large	intestine
37	chr15:40277800-40291400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr15:40277800-40291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:40277800-40293800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr15:40277800-40294400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:40277800-40298200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:40277800-40303800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:40277800-40304400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr15:40277800-40304800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:40277800-40305000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:40277800-40305000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr15:40277800-40305400	Strong transcription	Fetal Muscle Leg	muscle
48	chr15:40277800-40305600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr15:40278000-40288800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr15:40278000-40289800	Strong transcription	Stomach Smooth Muscle	stomach

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