Variant report

Variant	rs62481416
Chromosome Location	chr7:127478125-127478126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127473878..127476646-chr7:127477198..127480540,3	K562	blood:
2	chr7:127306135..127308740-chr7:127475843..127478656,2	K562	blood:
3	chr7:127471870..127473647-chr7:127477546..127479321,2	K562	blood:
4	chr7:127031985..127033507-chr7:127475912..127478469,2	K562	blood:
5	chr7:127467513..127471385-chr7:127477600..127480092,3	K562	blood:
6	chr7:127473878..127476756-chr7:127477234..127480540,3	K562	blood:
7	chr7:127462202..127463736-chr7:127476310..127479063,2	K562	blood:
8	chr7:127467741..127471217-chr7:127476895..127480654,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1024910	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10954164	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11768841	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11772303	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1193333	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1193335	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12539411	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540484	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12667197	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12668077	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672945	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1419967	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419968	0.84[ASN][1000 genomes]
rs16871926	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17151229	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151377	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17151470	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058457	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241291	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2402871	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2543477	0.81[EUR][1000 genomes]
rs3757760	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3757763	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3757771	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3757778	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757780	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779527	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3808078	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808086	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808088	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3824003	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731377	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56185520	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58106688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59140894	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481385	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481419	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481443	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481447	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481450	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6467155	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6467156	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67338333	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698408	0.82[ASN][1000 genomes]
rs712707	0.82[ASN][1000 genomes]
rs712715	0.83[ASN][1000 genomes]
rs712718	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs712719	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs765971	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7789322	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs806166	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs806169	0.81[ASN][1000 genomes]
rs806172	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs806174	0.81[AMR][1000 genomes]
rs882694	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791922	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
2	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:127457000-127497800	Weak transcription	Gastric	stomach
4	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
7	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
8	chr7:127463400-127479000	Weak transcription	Fetal Lung	lung
9	chr7:127463600-127482800	Weak transcription	Small Intestine	intestine
10	chr7:127465000-127483200	Weak transcription	HepG2	liver
11	chr7:127469400-127488800	Weak transcription	Thymus	Thymus
12	chr7:127470200-127484400	Weak transcription	Fetal Heart	heart
13	chr7:127471800-127484200	Weak transcription	Left Ventricle	heart
14	chr7:127471800-127495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:127472200-127484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:127472800-127483800	Weak transcription	Brain Substantia Nigra	brain
17	chr7:127473800-127479000	Weak transcription	Pancreas	Pancrea
18	chr7:127473800-127479000	Weak transcription	Right Atrium	heart
19	chr7:127473800-127479000	Weak transcription	Osteobl	bone
20	chr7:127473800-127482800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:127473800-127482800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:127474000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:127474000-127495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:127474200-127485200	Weak transcription	Hela-S3	cervix
25	chr7:127474200-127490400	Weak transcription	NHLF	lung
26	chr7:127474400-127479200	ZNF genes & repeats	GM12878-XiMat	blood
27	chr7:127474400-127480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:127474400-127486800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:127474600-127482800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:127474600-127484200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:127475400-127478200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:127475400-127478200	ZNF genes & repeats	K562	blood
33	chr7:127475600-127479200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr7:127476000-127478200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:127476000-127478200	ZNF genes & repeats	Dnd41	blood
36	chr7:127476000-127478400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr7:127476000-127479400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:127476200-127487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:127476400-127483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:127476600-127496400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:127476800-127478200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr7:127476800-127479400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:127477000-127478400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr7:127477200-127478200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr7:127477200-127478200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:127477200-127478200	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr7:127477200-127478200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr7:127477200-127478200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr7:127477200-127478200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr7:127477200-127478200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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