Variant report

Variant	rs62481380
Chromosome Location	chr7:127361788-127361789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127359816..127362199-chr7:127371171..127372768,2	K562	blood:
2	chr7:127290423..127292107-chr7:127361606..127363346,2	K562	blood:
3	chr7:127354365..127356905-chr7:127361625..127363196,2	K562	blood:
4	chr7:127347508..127350388-chr7:127360932..127362675,2	K562	blood:

Variant related genes	Relation type
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10487494	0.82[ASN][1000 genomes]
rs10487496	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536698	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13227138	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235596	0.89[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];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730294	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211107	0.82[ASN][1000 genomes]
rs34250605	0.85[AFR][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];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874680	0.82[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35872516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808090	0.84[AMR][1000 genomes]
rs3808096	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808111	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468943	0.82[ASN][1000 genomes]
rs62481384	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];0.89[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]
rs737242	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes]
rs7808161	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811506	0.84[AMR][1000 genomes];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	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
2	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
6	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
7	chr7:127339400-127371000	Weak transcription	Right Atrium	heart
8	chr7:127344600-127371200	Weak transcription	Brain Germinal Matrix	brain
9	chr7:127345000-127362000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:127347800-127365200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:127347800-127383000	Strong transcription	NHEK	skin
12	chr7:127349600-127371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:127351400-127362600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:127351400-127365800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:127351400-127365800	Strong transcription	HSMM	muscle
16	chr7:127351400-127366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:127351400-127368400	Weak transcription	Stomach Mucosa	stomach
18	chr7:127351400-127375600	Strong transcription	Liver	Liver
19	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:127351600-127382200	Strong transcription	K562	blood
21	chr7:127351800-127371000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:127352000-127364800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:127352200-127372400	Strong transcription	HepG2	liver
24	chr7:127352600-127375600	Strong transcription	Primary T cells from cord blood	blood
25	chr7:127352800-127370400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:127354000-127370400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:127354200-127365200	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:127354200-127365400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:127354200-127368400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:127354200-127368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:127354200-127370600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:127354200-127374000	Weak transcription	Fetal Brain Female	brain
33	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
34	chr7:127354400-127367400	Weak transcription	Right Ventricle	heart
35	chr7:127354400-127370400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:127354400-127370600	Weak transcription	Fetal Kidney	kidney
37	chr7:127354600-127366200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
39	chr7:127356000-127364400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:127356000-127369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:127356600-127363600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:127356600-127375600	Strong transcription	Primary B cells from cord blood	blood
43	chr7:127356800-127364400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:127357200-127364200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:127357200-127367000	Strong transcription	Dnd41	blood
46	chr7:127357200-127369400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:127357200-127375200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:127357400-127362000	Strong transcription	Thymus	Thymus
50	chr7:127357400-127365000	Strong transcription	Muscle Satellite Cultured Cells	--

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