Variant report

Variant	rs62466619
Chromosome Location	chr7:66491737-66491738
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12534892	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540243	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540298	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1879852	0.88[ASN][1000 genomes]
rs1879853	0.82[ASN][1000 genomes]
rs3748107	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3864349	0.83[ASN][1000 genomes]
rs4610623	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55694864	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59248739	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59775098	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62466615	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62466617	0.83[AMR][1000 genomes]
rs62466623	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62466626	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62466627	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7806639	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv981515	chr7:66477535-66532313	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv1848278	chr7:66482884-66494472	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
3	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
4	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
6	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
7	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:66470200-66492200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr7:66470400-66495200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:66470600-66492600	Strong transcription	Liver	Liver
11	chr7:66470600-66494800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:66474000-66492200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:66476800-66496800	Weak transcription	NHLF	lung
14	chr7:66477000-66495000	Weak transcription	Right Ventricle	heart
15	chr7:66477000-66499000	Weak transcription	Colonic Mucosa	Colon
16	chr7:66478800-66494600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:66480400-66494800	Weak transcription	Fetal Kidney	kidney
18	chr7:66480800-66494800	Weak transcription	Pancreas	Pancrea
19	chr7:66483400-66494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:66483400-66495000	Weak transcription	Brain Germinal Matrix	brain
21	chr7:66483400-66502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:66483400-66551200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:66483600-66534400	Weak transcription	Aorta	Aorta
24	chr7:66483800-66494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:66484400-66493000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:66484400-66494600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:66484400-66494600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:66484400-66494600	Weak transcription	Spleen	Spleen
29	chr7:66485000-66494400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:66485000-66494600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:66485200-66492200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:66485600-66494200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:66485800-66501000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:66486400-66494600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:66486400-66531600	Weak transcription	Ovary	ovary
36	chr7:66486600-66494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:66486600-66494600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:66486600-66494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:66486600-66494800	Weak transcription	Left Ventricle	heart
40	chr7:66486600-66507600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:66487000-66515800	Weak transcription	Fetal Brain Female	brain
42	chr7:66487000-66576600	Weak transcription	Gastric	stomach
43	chr7:66487800-66494600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:66487800-66494600	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:66487800-66494600	Weak transcription	Brain Substantia Nigra	brain
46	chr7:66487800-66494600	Weak transcription	Lung	lung
47	chr7:66487800-66494600	Weak transcription	K562	blood
48	chr7:66487800-66508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:66488000-66494400	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:66488000-66494600	Weak transcription	H9 Cell Line	embryonic stem cell

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