Variant report

Variant	rs7741376
Chromosome Location	chr6:74202758-74202759
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	POLR2A	chr6:74202677-74203006	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:74201956..74203659-chr6:74230249..74231755,2	K562	blood:
2	chr6:74197243..74199833-chr6:74200536..74205034,4	K562	blood:
3	chr6:74197441..74199354-chr6:74202563..74205034,2	K562	blood:

Variant related genes	Relation type
ENSG00000223821	TF binding region
ENSG00000156508	Chromatin interaction
ENSG00000271986	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1128073	0.87[EUR][1000 genomes]
rs13203367	0.82[EUR][1000 genomes]
rs1390081	0.86[EUR][1000 genomes]
rs1390082	0.83[EUR][1000 genomes]
rs1874229	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874230	0.87[EUR][1000 genomes]
rs2017272	0.86[EUR][1000 genomes]
rs2073466	0.87[EUR][1000 genomes]
rs2291719	0.82[EUR][1000 genomes]
rs2882584	0.86[EUR][1000 genomes]
rs3822960	0.85[EUR][1000 genomes]
rs4257823	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4708062	0.83[EUR][1000 genomes]
rs514582	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs532959	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs569652	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs577372	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs613787	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs617464	0.82[EUR][1000 genomes]
rs6453679	0.80[EUR][1000 genomes]
rs673265	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6915328	0.86[EUR][1000 genomes]
rs693434	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751342	0.87[EUR][1000 genomes]
rs9352001	0.87[EUR][1000 genomes]
rs9352003	0.83[EUR][1000 genomes]
rs9352004	0.81[EUR][1000 genomes]
rs9352005	0.80[EUR][1000 genomes]
rs9352006	0.81[EUR][1000 genomes]
rs9360681	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9442916	0.83[EUR][1000 genomes]
rs9446917	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
7	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	172 gene(s)	inside rSNPs	diseases
9	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7741376	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL
rs7741376	MTO1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:74181800-74214800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:74182400-74206200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr6:74184000-74212000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:74192000-74207800	Weak transcription	Psoas Muscle	Psoas
8	chr6:74192000-74214200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:74192000-74225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:74192200-74226000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:74192400-74225000	Weak transcription	Stomach Mucosa	stomach
12	chr6:74197600-74204400	Weak transcription	Esophagus	oesophagus
13	chr6:74197600-74207000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:74197800-74213200	Weak transcription	Fetal Heart	heart
15	chr6:74197800-74225200	Weak transcription	Colonic Mucosa	Colon
16	chr6:74198000-74205600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:74198200-74207400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:74198200-74211200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:74198600-74207600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:74198600-74209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:74198600-74213800	Weak transcription	Gastric	stomach
22	chr6:74198800-74203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:74198800-74203600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:74198800-74204600	Weak transcription	Pancreas	Pancrea
25	chr6:74198800-74205600	Weak transcription	Right Ventricle	heart
26	chr6:74198800-74207000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:74198800-74207200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:74198800-74207200	Weak transcription	HMEC	breast
29	chr6:74198800-74211200	Weak transcription	Aorta	Aorta
30	chr6:74198800-74213000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:74198800-74225000	Weak transcription	Fetal Brain Male	brain
32	chr6:74199000-74204600	Weak transcription	NH-A	brain
33	chr6:74199000-74204800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:74199000-74204800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:74199000-74205000	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:74199000-74207200	Weak transcription	Brain Germinal Matrix	brain
37	chr6:74199000-74207400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:74199000-74224200	Weak transcription	A549	lung
39	chr6:74200000-74203200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:74200000-74203800	Strong transcription	Osteobl	bone
41	chr6:74200000-74206200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:74200000-74212000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:74200000-74215000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr6:74200000-74215200	Strong transcription	Liver	Liver
45	chr6:74200200-74203000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:74200200-74206000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:74200200-74212800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:74200400-74202800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:74200400-74203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:74200400-74205400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links