Variant report

Variant	rs6684787
Chromosome Location	chr1:225612738-225612739
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	JUN	chr1:225611820-225617257	K562	blood:	n/a	chr1:225613227-225613237 chr1:225616567-225616575 chr1:225615250-225615261 chr1:225616568-225616575 chr1:225612971-225612983 chr1:225616565-225616577 chr1:225613226-225613238 chr1:225613227-225613237 chr1:225613228-225613236 chr1:225616567-225616575 chr1:225615989-225615998 chr1:225612930-225612939 chr1:225613227-225613237 chr1:225616648-225616657 chr1:225615862-225615871 chr1:225616566-225616576
2	POLR2A	chr1:225611871-225615203	K562	blood:	n/a	n/a
3	FOSL2	chr1:225612165-225612755	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr1:225612696-225612899	K562	blood:	n/a	n/a
5	MAZ	chr1:225612618-225613546	K562	blood:	n/a	chr1:225613403-225613413
6	TCF7L2	chr1:225612717-225613346	HEK293	kidney:	n/a	chr1:225613228-225613237 chr1:225612860-225612867
7	MAFF	chr1:225612706-225612852	HepG2	liver:	n/a	n/a
8	ZKSCAN1	chr1:225612652-225612812	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr1:225609788-225616921	SK-N-SH	brain:	n/a	n/a
10	ZNF263	chr1:225612686-225613645	HEK293-T-REx	kidney:	n/a	chr1:225613187-225613196 chr1:225613407-225613416 chr1:225613251-225613272 chr1:225613410-225613419
11	EBF1	chr1:225612700-225613333	GM12878	blood:	n/a	chr1:225612902-225612911 chr1:225612900-225612911 chr1:225612902-225612912
12	MAFF	chr1:225612645-225612894	K562	blood:	n/a	n/a
13	MAFK	chr1:225612669-225612806	Hela-S3	cervix:	n/a	n/a
14	PBX3	chr1:225612210-225613444	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225611374..225613907-chr1:225615245..225617904,3	MCF-7	breast:
2	chr1:225611259..225613937-chr1:225629471..225632737,4	K562	blood:
3	chr1:225569904..225572339-chr1:225612601..225615493,2	K562	blood:

Variant related genes	Relation type
LBR	TF binding region
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1056607	0.88[AFR][1000 genomes]
rs11588279	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1340867	0.90[ASN][1000 genomes]
rs2066233	0.89[ASN][1000 genomes]
rs2185529	0.89[ASN][1000 genomes]
rs4653636	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6687980	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6696038	0.89[ASN][1000 genomes]
rs7541888	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6684787	LBR	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225599800-225614000	Weak transcription	Right Ventricle	heart
2	chr1:225602800-225613600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:225607000-225613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:225609600-225615200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:225609800-225613200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:225609800-225613800	Enhancers	Fetal Brain Male	brain
7	chr1:225609800-225614200	Enhancers	Small Intestine	intestine
8	chr1:225610000-225613000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:225610000-225613600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:225610000-225613800	Enhancers	Fetal Lung	lung
11	chr1:225610200-225613400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:225610200-225613600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:225610200-225613800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:225610400-225612800	Genic enhancers	Fetal Thymus	thymus
15	chr1:225610400-225613200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:225610600-225613200	Enhancers	Liver	Liver
17	chr1:225610800-225613200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:225611000-225613000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:225611000-225613400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:225611000-225613600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:225611000-225613800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:225611000-225613800	Enhancers	Brain Hippocampus Middle	brain
23	chr1:225611200-225612800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:225611200-225614000	Enhancers	Fetal Heart	heart
25	chr1:225611400-225612800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:225611400-225613200	Enhancers	Fetal Intestine Small	intestine
27	chr1:225611400-225613600	Enhancers	Fetal Kidney	kidney
28	chr1:225611400-225614000	Enhancers	Fetal Muscle Leg	muscle
29	chr1:225611600-225612800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:225611600-225612800	Enhancers	Primary T cells from cord blood	blood
31	chr1:225611600-225612800	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:225611600-225613000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:225611600-225613000	Weak transcription	Stomach Mucosa	stomach
34	chr1:225611600-225613200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:225611600-225613600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr1:225611600-225614200	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:225611800-225613200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:225611800-225613400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr1:225612000-225613400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:225612000-225614000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:225612000-225614000	Enhancers	HSMMtube	muscle
42	chr1:225612000-225614200	Flanking Active TSS	Fetal Brain Female	brain
43	chr1:225612000-225614200	Transcr. at gene 5' and 3'	K562	blood
44	chr1:225612000-225614600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:225612000-225614600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr1:225612000-225615000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr1:225612000-225615400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr1:225612200-225612800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:225612200-225612800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:225612200-225613000	Enhancers	Skeletal Muscle Male	skeletal muscle

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