Variant report

Variant	rs3045
Chromosome Location	chr5:14711275-14711276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14704921..14709594-chr5:14711258..14715329,5	K562	blood:
2	chr5:14707083..14709123-chr5:14710794..14712350,2	K562	blood:
3	chr5:14709865..14711953-chr5:14714629..14717421,2	K562	blood:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10038397	0.95[EUR][1000 genomes]
rs10052744	1.00[CHD][hapmap]
rs10065032	0.96[EUR][1000 genomes]
rs10078863	0.88[EUR][1000 genomes]
rs10080009	1.00[CHD][hapmap]
rs153921	1.00[CHD][hapmap]
rs153926	1.00[CHD][hapmap]
rs17250963	1.00[CHD][hapmap]
rs17296541	1.00[CHD][hapmap]
rs17363158	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17364066	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs187483	1.00[CHD][hapmap]
rs250438	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2921521	1.00[CHD][hapmap]
rs3845281	1.00[CHD][hapmap]
rs57067314	0.81[AFR][1000 genomes]
rs58936946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59980057	0.90[EUR][1000 genomes]
rs60501770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6884420	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6886163	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6892588	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs697565	1.00[CHD][hapmap]
rs7711870	0.89[ASW][hapmap];0.94[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs89356	0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs9885040	0.90[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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3045	RASGRP3	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
2	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:14690800-14717200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:14691000-14712800	Strong transcription	Hela-S3	cervix
5	chr5:14691000-14722200	Weak transcription	Stomach Mucosa	stomach
6	chr5:14691200-14720400	Weak transcription	Psoas Muscle	Psoas
7	chr5:14691600-14715000	Strong transcription	GM12878-XiMat	blood
8	chr5:14694000-14717800	Weak transcription	Fetal Kidney	kidney
9	chr5:14696600-14717800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:14696600-14727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:14696800-14718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:14697000-14712800	Strong transcription	Fetal Intestine Small	intestine
13	chr5:14699600-14712600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:14700000-14723800	Weak transcription	Small Intestine	intestine
15	chr5:14700200-14712000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:14701400-14716000	Strong transcription	Fetal Stomach	stomach
17	chr5:14701400-14717000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr5:14701600-14711800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:14701600-14714400	Strong transcription	Fetal Muscle Leg	muscle
20	chr5:14701600-14716000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:14701800-14714400	Weak transcription	Fetal Heart	heart
22	chr5:14702600-14713600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:14704400-14717000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:14704400-14719000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:14704800-14715400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:14705200-14713800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr5:14705400-14713800	Strong transcription	Placenta	Placenta
28	chr5:14705400-14715000	Strong transcription	Left Ventricle	heart
29	chr5:14705400-14717000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:14705400-14717400	Strong transcription	A549	lung
31	chr5:14705600-14717200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:14705600-14718400	Strong transcription	Fetal Brain Female	brain
33	chr5:14706000-14712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:14706600-14717000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:14706800-14715000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:14707000-14715000	Strong transcription	Gastric	stomach
37	chr5:14707000-14715800	Strong transcription	Lung	lung
38	chr5:14707200-14711400	Strong transcription	NHEK	skin
39	chr5:14707200-14712000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:14707200-14712800	Strong transcription	HSMM	muscle
41	chr5:14707200-14716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:14707200-14717200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:14707200-14717200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:14707200-14718000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:14707200-14718600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:14707400-14714400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:14707400-14714400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr5:14707400-14714800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:14707400-14716200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:14707400-14720200	Strong transcription	Osteobl	bone

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