Variant report

Variant	rs4717339
Chromosome Location	chr7:66474559-66474560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10228308	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10233388	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10234407	0.84[ASN][1000 genomes]
rs10234659	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10238245	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs10242790	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10268701	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10271374	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs10273692	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11761677	0.84[ASN][1000 genomes]
rs11766984	0.86[ASN][1000 genomes]
rs11770535	0.86[ASN][1000 genomes]
rs13222146	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17137288	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2421404	1.00[CHB][hapmap]
rs2690147	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs34157075	0.84[ASN][1000 genomes]
rs3807433	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4717336	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717338	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717340	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4717341	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718475	0.82[CHB][hapmap]
rs6460322	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6949698	0.84[ASN][1000 genomes]
rs6950170	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6951192	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6974864	0.84[ASN][1000 genomes]
rs71535636	0.84[ASN][1000 genomes]
rs71563150	0.84[ASN][1000 genomes]
rs73134219	0.86[ASN][1000 genomes]
rs73134237	0.82[ASN][1000 genomes]
rs7780458	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7788266	0.84[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
rs4717339	TYW1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462200-66482600	Weak transcription	Aorta	Aorta
2	chr7:66462400-66475400	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:66462400-66475800	Weak transcription	Right Ventricle	heart
4	chr7:66462400-66476000	Weak transcription	Colonic Mucosa	Colon
5	chr7:66462400-66476400	Weak transcription	Gastric	stomach
6	chr7:66462400-66478400	Weak transcription	Pancreas	Pancrea
7	chr7:66462400-66479400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:66462400-66482200	Weak transcription	Small Intestine	intestine
9	chr7:66462400-66482600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
13	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
14	chr7:66462600-66475400	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:66462600-66475800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:66462600-66475800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:66462600-66476000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:66462600-66476400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:66462600-66476400	Weak transcription	NHLF	lung
20	chr7:66462600-66479000	Weak transcription	Fetal Brain Female	brain
21	chr7:66462600-66479200	Weak transcription	Fetal Kidney	kidney
22	chr7:66462600-66480600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:66462600-66482800	Weak transcription	NHEK	skin
24	chr7:66462600-66484600	Weak transcription	HUVEC	blood vessel
25	chr7:66462600-66487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:66462800-66476000	Weak transcription	Left Ventricle	heart
28	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
29	chr7:66463000-66476200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:66463000-66487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
32	chr7:66463200-66476400	Weak transcription	HepG2	liver
33	chr7:66463200-66482600	Weak transcription	HMEC	breast
34	chr7:66463200-66483000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:66463200-66484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:66463200-66487400	Weak transcription	NH-A	brain
37	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:66464400-66478400	Weak transcription	Spleen	Spleen
39	chr7:66465200-66475800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:66465200-66475800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:66467000-66475600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:66467000-66480600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:66468600-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:66469000-66477200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:66469000-66480600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:66469000-66484400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:66469200-66479800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:66469200-66482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:66470000-66477000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:66470000-66489000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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