Variant report

Variant	rs4718442
Chromosome Location	chr7:66476081-66476082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10950057	0.87[ASN][1000 genomes]
rs11766621	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11771519	0.82[ASN][1000 genomes]
rs4146599	0.81[ASN][1000 genomes]
rs4236210	0.81[ASN][1000 genomes]
rs4626481	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718439	0.85[ASN][1000 genomes]
rs4718440	0.83[ASN][1000 genomes]
rs4718441	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4718443	0.87[ASN][1000 genomes]
rs7790453	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795108	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718442	TYW1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462200-66482600	Weak transcription	Aorta	Aorta
2	chr7:66462400-66476400	Weak transcription	Gastric	stomach
3	chr7:66462400-66478400	Weak transcription	Pancreas	Pancrea
4	chr7:66462400-66479400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:66462400-66482200	Weak transcription	Small Intestine	intestine
6	chr7:66462400-66482600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
10	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
11	chr7:66462600-66476400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:66462600-66476400	Weak transcription	NHLF	lung
13	chr7:66462600-66479000	Weak transcription	Fetal Brain Female	brain
14	chr7:66462600-66479200	Weak transcription	Fetal Kidney	kidney
15	chr7:66462600-66480600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:66462600-66482800	Weak transcription	NHEK	skin
17	chr7:66462600-66484600	Weak transcription	HUVEC	blood vessel
18	chr7:66462600-66487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
21	chr7:66463000-66476200	Weak transcription	Brain Substantia Nigra	brain
22	chr7:66463000-66487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
24	chr7:66463200-66476400	Weak transcription	HepG2	liver
25	chr7:66463200-66482600	Weak transcription	HMEC	breast
26	chr7:66463200-66483000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:66463200-66484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:66463200-66487400	Weak transcription	NH-A	brain
29	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:66464400-66478400	Weak transcription	Spleen	Spleen
31	chr7:66467000-66480600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:66468600-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:66469000-66477200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr7:66469000-66480600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:66469000-66484400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:66469200-66479800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:66469200-66482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:66470000-66477000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr7:66470000-66489000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:66470000-66489000	Strong transcription	Fetal Intestine Small	intestine
41	chr7:66470200-66477200	Strong transcription	Fetal Intestine Large	intestine
42	chr7:66470200-66477800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr7:66470200-66488200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:66470200-66488400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:66470200-66488400	Strong transcription	Fetal Stomach	stomach
46	chr7:66470200-66492200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:66470400-66476600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr7:66470400-66478600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:66470400-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:66470400-66488000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links