Variant report

Variant	rs7764719
Chromosome Location	chr6:74018011-74018012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74017993..74019830-chr6:74023707..74026183,2	K562	blood:
2	6:74012200-74019242..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo
3	6:74012200-74019242..6:74062967-74076046	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000203908	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000235174	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10455092	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10455273	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10455274	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1066687	0.94[ASN][1000 genomes]
rs12153835	0.91[ASN][1000 genomes]
rs12203663	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12208781	0.91[ASN][1000 genomes]
rs12210531	0.90[ASN][1000 genomes]
rs12216162	0.91[ASN][1000 genomes]
rs12526643	0.89[ASN][1000 genomes]
rs12529624	0.91[ASN][1000 genomes]
rs12529658	0.91[ASN][1000 genomes]
rs12530029	0.88[ASN][1000 genomes]
rs12530079	0.91[ASN][1000 genomes]
rs13194683	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13212903	0.91[ASN][1000 genomes]
rs13213885	0.91[ASN][1000 genomes]
rs13219250	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1555443	0.91[ASN][1000 genomes]
rs1869559	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1970551	0.91[ASN][1000 genomes]
rs1974368	0.90[ASN][1000 genomes]
rs2124004	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168113	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2254630	0.91[ASN][1000 genomes]
rs2603471	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2603473	0.90[EUR][1000 genomes]
rs2603474	0.81[EUR][1000 genomes]
rs2797086	0.92[ASN][1000 genomes]
rs28530192	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2984129	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34246858	0.91[ASN][1000 genomes]
rs34531450	0.91[ASN][1000 genomes]
rs34637067	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34821383	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35664677	0.90[ASN][1000 genomes]
rs4706533	0.91[ASN][1000 genomes]
rs4706534	0.91[ASN][1000 genomes]
rs4708041	0.91[ASN][1000 genomes]
rs4708042	0.91[ASN][1000 genomes]
rs471270	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs471938	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs502107	0.90[ASN][1000 genomes]
rs502282	0.91[ASN][1000 genomes]
rs509406	0.91[ASN][1000 genomes]
rs510551	0.87[ASN][1000 genomes]
rs511219	0.95[ASN][1000 genomes]
rs512366	0.90[ASN][1000 genomes]
rs555779	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57113415	0.83[ASN][1000 genomes]
rs573535	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576229	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs579736	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61493410	0.88[ASN][1000 genomes]
rs62438232	0.91[ASN][1000 genomes]
rs62438233	0.91[ASN][1000 genomes]
rs62438235	0.91[ASN][1000 genomes]
rs62438239	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66984567	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6915004	0.89[EUR][1000 genomes]
rs6923111	0.84[ASN][1000 genomes]
rs6923734	0.91[ASN][1000 genomes]
rs7382700	0.91[ASN][1000 genomes]
rs7740081	0.91[ASN][1000 genomes]
rs7742847	0.91[ASN][1000 genomes]
rs7743609	0.91[ASN][1000 genomes]
rs7744174	0.91[ASN][1000 genomes]
rs7758047	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7759043	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7759315	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765618	0.91[ASN][1000 genomes]
rs7769905	0.93[ASN][1000 genomes]
rs7773619	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9800483	0.81[ASN][1000 genomes]
rs9800824	0.90[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv518874	chr6:74014468-74041424	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7764719	EIF3EP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7764719	C6orf148	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73973600-74018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:73973600-74018600	Weak transcription	A549	lung
3	chr6:73973600-74018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:73974000-74018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:73983800-74018600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:73984400-74018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:73994200-74018600	Weak transcription	Stomach Mucosa	stomach
8	chr6:74005200-74018600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:74008800-74018400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:74009000-74018400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:74009400-74018400	Weak transcription	Fetal Lung	lung
12	chr6:74009400-74019000	Weak transcription	Right Atrium	heart
13	chr6:74009600-74018600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:74009600-74018600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:74009600-74018600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:74009600-74018600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:74009600-74018600	Weak transcription	NHLF	lung
18	chr6:74009800-74018800	Weak transcription	Ovary	ovary
19	chr6:74009800-74018800	Weak transcription	Spleen	Spleen
20	chr6:74010000-74018400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:74010000-74018600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:74010000-74018800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:74010000-74018800	Weak transcription	Thymus	Thymus
24	chr6:74010600-74018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:74012600-74018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:74014200-74018800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:74014400-74018800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:74016200-74018600	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:74016200-74018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:74016200-74020400	Active TSS	Hela-S3	cervix
31	chr6:74016800-74018400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:74017200-74018200	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr6:74017200-74018200	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:74017200-74018600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:74017200-74018800	Enhancers	Pancreas	Pancrea
36	chr6:74017200-74019000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr6:74017200-74019200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:74017200-74019200	Flanking Active TSS	Dnd41	blood
39	chr6:74017200-74020800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:74017400-74018400	Weak transcription	Fetal Stomach	stomach
41	chr6:74017600-74018400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:74017600-74018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:74017600-74018600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:74017600-74018600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:74017600-74018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:74017600-74018600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:74017600-74018600	Weak transcription	Brain Germinal Matrix	brain
48	chr6:74017600-74018600	Weak transcription	Fetal Brain Male	brain
49	chr6:74017600-74018600	Weak transcription	Fetal Brain Female	brain
50	chr6:74017600-74018600	Weak transcription	Fetal Thymus	thymus

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