Variant report

Variant	rs3935203
Chromosome Location	chr8:66716543-66716544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66714740..66718106-chr8:66754325..66756257,3	K562	blood:
2	chr8:66711708..66716054-chr8:66716303..66719778,4	K562	blood:
3	chr8:66700331..66702852-chr8:66715222..66718861,3	K562	blood:

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000272192	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11995869	1.00[CEU][hapmap]
rs16932346	0.81[CEU][hapmap]
rs17304488	0.81[AMR][1000 genomes]
rs17304551	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17304921	1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17394029	0.81[AMR][1000 genomes]
rs17394294	0.81[AMR][1000 genomes]
rs17395190	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17395394	0.81[AMR][1000 genomes]
rs17395656	0.81[AMR][1000 genomes]
rs17395816	1.00[MEX][hapmap]
rs17395851	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17395878	0.81[AMR][1000 genomes]
rs17395920	0.81[AMR][1000 genomes]
rs17396004	1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17396066	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17396192	0.89[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35688380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4392943	0.81[AMR][1000 genomes]
rs4515591	0.81[AMR][1000 genomes]
rs58213885	0.90[EUR][1000 genomes]
rs6996048	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7001138	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829484	0.81[CEU][hapmap]

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	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3935203	MTFR1	cis	parietal	SCAN
rs3935203	LIPG	trans	lymphoblastoid	seeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66701600-66717000	Weak transcription	Gastric	stomach
2	chr8:66707800-66720200	Weak transcription	Aorta	Aorta
3	chr8:66711000-66721600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr8:66711000-66722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:66711800-66717400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:66711800-66717400	Weak transcription	Dnd41	blood
7	chr8:66712600-66718000	Weak transcription	Stomach Mucosa	stomach
8	chr8:66712800-66717000	Weak transcription	Left Ventricle	heart
9	chr8:66713000-66717000	Weak transcription	Right Ventricle	heart
10	chr8:66713000-66717200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:66713000-66717800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:66713000-66717800	Weak transcription	Fetal Heart	heart
13	chr8:66713000-66717800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:66713000-66718800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:66713200-66717200	Weak transcription	K562	blood
16	chr8:66713200-66717800	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:66713200-66718800	Weak transcription	Psoas Muscle	Psoas
18	chr8:66713200-66719000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:66713200-66720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:66713400-66717400	Weak transcription	HMEC	breast
21	chr8:66713400-66718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:66713400-66720200	Weak transcription	Right Atrium	heart
23	chr8:66713400-66738200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:66713600-66717200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:66713600-66717200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:66713600-66718800	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:66713800-66718800	Weak transcription	Small Intestine	intestine
28	chr8:66713800-66721000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:66714000-66719800	Weak transcription	Brain Angular Gyrus	brain
30	chr8:66714200-66723400	Weak transcription	Brain Germinal Matrix	brain
31	chr8:66714600-66719400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:66714800-66734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:66715000-66716600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:66715000-66717000	Strong transcription	Fetal Thymus	thymus
35	chr8:66715000-66720000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:66715000-66720400	ZNF genes & repeats	GM12878-XiMat	blood
37	chr8:66715200-66718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:66715200-66720000	Weak transcription	Thymus	Thymus
39	chr8:66715400-66716600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:66715400-66716800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:66715400-66716800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:66715400-66717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:66715400-66723400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:66715600-66717800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:66715800-66716600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:66715800-66718000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr8:66716000-66716600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr8:66716000-66716600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:66716000-66717000	Weak transcription	Primary B cells from cord blood	blood
50	chr8:66716000-66717200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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