Variant report

Variant	rs62481443
Chromosome Location	chr7:127530017-127530018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1024910	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954164	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11768841	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11772303	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1193333	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1193335	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539411	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12540484	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12667197	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12668077	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672945	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12673293	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419967	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1419968	0.81[ASN][1000 genomes]
rs16871926	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17151229	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17151377	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17151470	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2058457	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241291	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2402871	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2543477	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757760	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3757763	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757771	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3757778	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757780	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3779527	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808056	0.80[EUR][1000 genomes]
rs3808078	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3808086	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808088	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824003	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4728079	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731377	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56185520	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58106688	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59140894	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481385	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481416	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481419	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481447	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481450	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467155	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467156	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67338333	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs698408	0.81[ASN][1000 genomes]
rs712707	0.82[ASN][1000 genomes]
rs712715	0.82[ASN][1000 genomes]
rs712718	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs712719	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs765971	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7789322	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806166	0.82[ASN][1000 genomes]
rs806169	0.80[ASN][1000 genomes]
rs806172	0.80[ASN][1000 genomes]
rs806174	0.81[AMR][1000 genomes]
rs882694	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9791922	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
4	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127514800-127531000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:127522400-127530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:127523200-127531200	Weak transcription	Fetal Kidney	kidney
10	chr7:127524800-127538400	Weak transcription	Psoas Muscle	Psoas
11	chr7:127524800-127540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:127525200-127536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:127526000-127535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:127526200-127531000	Weak transcription	Brain Anterior Caudate	brain
15	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:127526400-127531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:127526400-127531600	Strong transcription	NHEK	skin
18	chr7:127526400-127532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:127526400-127538000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:127526600-127535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127526600-127540600	Weak transcription	Fetal Brain Female	brain
22	chr7:127526600-127540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:127526800-127535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:127526800-127539600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:127527000-127530200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:127527000-127532800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:127527200-127530400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:127527200-127540400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:127527400-127531400	Weak transcription	HSMMtube	muscle
30	chr7:127527400-127532400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:127527400-127533600	Strong transcription	Primary T cells from cord blood	blood
32	chr7:127527600-127530600	Strong transcription	Primary B cells from cord blood	blood
33	chr7:127527600-127532800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:127527800-127530200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:127527800-127530200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:127527800-127530200	Strong transcription	Osteobl	bone
37	chr7:127527800-127530400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:127527800-127530400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:127527800-127530800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:127527800-127532200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:127527800-127532600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:127527800-127532800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:127527800-127532800	Strong transcription	Dnd41	blood
44	chr7:127527800-127535000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:127528000-127530800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:127528000-127531000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:127528000-127532400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:127528000-127533200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:127528400-127532200	Strong transcription	Hela-S3	cervix
50	chr7:127528600-127530200	Strong transcription	Primary hematopoietic stem cells	blood

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