Variant report

Variant	rs62481384
Chromosome Location	chr7:127409919-127409920
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127390841..127392796-chr7:127409472..127412228,2	K562	blood:
2	chr7:127402917..127404639-chr7:127409550..127411362,2	K562	blood:
3	chr7:127401749..127405329-chr7:127409862..127412962,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10487494	0.82[ASN][1000 genomes]
rs10487496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536698	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13244426	0.82[ASN][1000 genomes]
rs13247976	0.82[ASN][1000 genomes]
rs17660187	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17733783	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2272374	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34209480	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34250605	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34365152	0.82[ASN][1000 genomes]
rs34388330	0.82[ASN][1000 genomes]
rs34599926	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34844752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35602492	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35872516	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757762	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3757785	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779525	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3808062	0.86[ASN][1000 genomes]
rs3808090	0.94[AMR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808111	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808115	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481393	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481453	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62483172	0.82[ASN][1000 genomes]
rs6948752	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs737242	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7808161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811506	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1793220	chr7:127400473-127413555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
5	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
6	chr7:127392200-127410400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:127392200-127411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:127392600-127410000	Weak transcription	Left Ventricle	heart
9	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
10	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:127396400-127422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:127401000-127411000	Weak transcription	Gastric	stomach
14	chr7:127401000-127411000	Weak transcription	Pancreas	Pancrea
15	chr7:127401000-127422000	Weak transcription	Small Intestine	intestine
16	chr7:127401000-127422400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:127401000-127427000	Weak transcription	HepG2	liver
18	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
19	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
20	chr7:127402800-127422200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:127405400-127412400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:127406200-127410000	Weak transcription	Lung	lung
24	chr7:127407000-127410000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:127407000-127410400	Weak transcription	Primary B cells from cord blood	blood
26	chr7:127407000-127411200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:127407000-127411600	Enhancers	HSMM	muscle
28	chr7:127407000-127411600	Enhancers	Osteobl	bone
29	chr7:127407400-127411000	Weak transcription	K562	blood
30	chr7:127407400-127411600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:127407400-127419800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:127407400-127420200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
34	chr7:127407400-127447600	Weak transcription	Dnd41	blood
35	chr7:127407600-127411000	Weak transcription	GM12878-XiMat	blood
36	chr7:127407600-127411200	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:127407600-127412200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:127407600-127415600	Weak transcription	NHEK	skin
39	chr7:127407600-127422000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:127408000-127410600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:127408000-127411400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:127408000-127411400	Enhancers	NH-A	brain
44	chr7:127408000-127418600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:127408000-127421800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:127408200-127419600	Weak transcription	Esophagus	oesophagus
49	chr7:127408200-127422200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:127408400-127410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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