Variant report

Variant	rs6729768
Chromosome Location	chr2:33755997-33755998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr2:33754903-33756949	GM12878	blood:	n/a	chr2:33756092-33756101 chr2:33756092-33756101
2	STAT3	chr2:33755779-33756566	GM12878	blood:	n/a	n/a
3	MEF2C	chr2:33755768-33756355	GM12878	blood:	n/a	chr2:33756037-33756052 chr2:33756104-33756125 chr2:33756036-33756050 chr2:33756036-33756051
4	POLR2A	chr2:33755654-33756113	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:33754749-33757259	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:33755853-33756003	GM12878	blood:	n/a	n/a
7	RELA	chr2:33755054-33756943	GM19099	blood:	n/a	chr2:33756092-33756101 chr2:33756092-33756101
8	TBP	chr2:33755912-33756264	GM12878	blood:	n/a	n/a
9	NFIC	chr2:33755314-33756614	GM12878	blood:	n/a	n/a
10	NFIC	chr2:33754935-33756897	GM12878	blood:	n/a	n/a
11	YY1	chr2:33755807-33756086	K562	blood:	n/a	n/a
12	POLR2A	chr2:33754839-33757394	GM12892	blood:	n/a	n/a
13	POLR2A	chr2:33755836-33756036	GM12878	blood:	n/a	n/a
14	RELA	chr2:33755693-33757188	GM18951	blood:	n/a	chr2:33756092-33756101 chr2:33756092-33756101
15	PML	chr2:33754667-33756870	GM12878	blood:	n/a	chr2:33754990-33754999
16	TBL1XR1	chr2:33754869-33756259	GM12878	blood:	n/a	n/a
17	ATF2	chr2:33754699-33757003	GM12878	blood:	n/a	n/a
18	PML	chr2:33755847-33756363	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:33755185-33757013	GM12892	blood:	n/a	n/a
20	POU2F2	chr2:33755900-33756122	GM12878	blood:	n/a	chr2:33756079-33756088 chr2:33756078-33756090 chr2:33756080-33756087 chr2:33756079-33756089 chr2:33756076-33756090 chr2:33756078-33756088 chr2:33756072-33756094 chr2:33756079-33756089
21	MTA3	chr2:33754602-33757187	GM12878	blood:	n/a	n/a
22	SMC3	chr2:33755650-33756335	GM12878	blood:	n/a	n/a
23	RELA	chr2:33754725-33757187	GM10847	blood:	n/a	chr2:33756092-33756101 chr2:33756092-33756101
24	EP300	chr2:33755619-33756465	GM12878	blood:	n/a	chr2:33755745-33755759 chr2:33756132-33756146
25	FOXM1	chr2:33754756-33756580	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:33755520-33756124	GM12891	blood:	n/a	n/a
27	RCOR1	chr2:33755659-33756891	GM12878	blood:	n/a	n/a
28	EP300	chr2:33754788-33756655	GM12878	blood:	n/a	chr2:33755595-33755609 chr2:33756471-33756485 chr2:33755745-33755759 chr2:33754988-33754997 chr2:33756132-33756146
29	POLR2A	chr2:33755507-33756305	GM12892	blood:	n/a	n/a
30	NFATC1	chr2:33755065-33756068	GM12878	blood:	n/a	n/a
31	MXI1	chr2:33755964-33756255	GM12878	blood:	n/a	n/a
32	FOXM1	chr2:33755672-33756851	GM12878	blood:	n/a	n/a
33	MAZ	chr2:33755323-33756244	GM12878	blood:	n/a	chr2:33755801-33755811
34	RELA	chr2:33755637-33756875	GM19193	blood:	n/a	chr2:33756092-33756101 chr2:33756092-33756101
35	MEF2A	chr2:33755623-33756494	GM12878	blood:	n/a	chr2:33756037-33756052 chr2:33756104-33756125 chr2:33756036-33756050
36	STAT5A	chr2:33754755-33756621	GM12878	blood:	n/a	chr2:33754989-33754998
37	BATF	chr2:33755757-33756160	GM12878	blood:	n/a	n/a
38	BHLHE40	chr2:33755930-33756682	GM12878	blood:	n/a	n/a
39	POU2F2	chr2:33755719-33756081	GM12891	blood:	n/a	chr2:33755728-33755743
40	MEF2A	chr2:33755660-33756338	GM12878	blood:	n/a	chr2:33756037-33756052 chr2:33756104-33756125 chr2:33756036-33756050
41	POLR2A	chr2:33754627-33756925	GM19099	blood:	n/a	n/a
42	POLR2A	chr2:33754583-33757284	GM12878	blood:	n/a	n/a
43	CUX1	chr2:33755789-33756322	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:33755586-33756276	GM12891	blood:	n/a	n/a
45	ATF2	chr2:33755534-33756945	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:33754583-33757763	GM12891	blood:	n/a	n/a
47	POLR2A	chr2:33754943-33757426	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:33754885-33756177	GM12878	blood:	n/a	n/a
49	MTA3	chr2:33754603-33756718	GM12878	blood:	n/a	n/a
50	RELA	chr2:33755835-33757099	GM15510	blood:	n/a	chr2:33756092-33756101 chr2:33756092-33756101

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13015659	0.80[AMR][1000 genomes]
rs2305573	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4286255	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4355083	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4561642	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4670659	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4670683	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7565568	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7581376	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7609546	0.81[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6729768	RASGRP3	Cis_1M	lymphoblastoid	RTeQTL
rs6729768	FAM98A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33735400-33761800	Weak transcription	Spleen	Spleen
3	chr2:33737600-33760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:33739200-33761800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:33744800-33758200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:33747200-33757600	Weak transcription	Psoas Muscle	Psoas
10	chr2:33747400-33761800	Weak transcription	Aorta	Aorta
11	chr2:33747800-33756600	Weak transcription	Right Ventricle	heart
12	chr2:33747800-33780200	Weak transcription	Brain Anterior Caudate	brain
13	chr2:33748000-33761800	Weak transcription	Fetal Stomach	stomach
14	chr2:33748000-33774400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:33748200-33780200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:33752800-33757800	Enhancers	NHDF-Ad	bronchial
18	chr2:33753000-33757000	Weak transcription	Lung	lung
19	chr2:33753000-33760600	Weak transcription	Adipose Nuclei	Adipose
20	chr2:33753200-33756400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:33753400-33757800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:33754200-33756400	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:33754200-33756400	Weak transcription	Left Ventricle	heart
24	chr2:33754200-33758000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:33754200-33760400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:33754200-33761800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:33754600-33756200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:33754600-33756200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:33754600-33757200	Enhancers	HSMMtube	muscle
30	chr2:33754600-33757200	Enhancers	Osteobl	bone
31	chr2:33754600-33757800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:33754600-33757800	Enhancers	NHLF	lung
33	chr2:33754600-33758400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:33754800-33756600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:33754800-33757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:33754800-33757400	Enhancers	HSMM	muscle
37	chr2:33755000-33758000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:33755000-33779800	Weak transcription	Small Intestine	intestine
39	chr2:33755200-33756400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr2:33755200-33756400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:33755200-33756600	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:33755200-33756800	Weak transcription	Fetal Heart	heart
43	chr2:33755200-33762800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:33755200-33767800	Weak transcription	Liver	Liver
45	chr2:33755400-33756400	Weak transcription	Right Atrium	heart
46	chr2:33755400-33757400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:33755400-33779800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:33755600-33756000	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr2:33755600-33756400	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:33755600-33756400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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