Variant report

Variant	rs35521470
Chromosome Location	chr7:127555963-127555964
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127547698..127550637-chr7:127555388..127557682,2	K562	blood:
2	chr7:127554877..127556921-chr7:127556939..127559555,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10487496	0.89[AMR][1000 genomes]
rs13235596	0.89[AMR][1000 genomes]
rs17662800	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17663644	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17730185	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17730294	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17733783	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272374	0.85[AFR][1000 genomes]
rs34188289	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34209480	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34250605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34844752	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34874680	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34980225	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35585856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35602492	0.89[ASN][1000 genomes]
rs35640048	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35872516	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs36043097	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3757762	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757785	0.85[AFR][1000 genomes]
rs3779525	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808062	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808090	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3808111	0.86[ASN][1000 genomes]
rs3808115	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs58341788	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62481380	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62481384	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62481393	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62481453	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948752	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737242	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7788592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7808161	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
3	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
5	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
7	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
9	chr7:127544800-127560600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
11	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
12	chr7:127545800-127569200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:127546000-127566800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:127546200-127559000	Weak transcription	HSMM	muscle
15	chr7:127546200-127560400	Weak transcription	Pancreas	Pancrea
16	chr7:127546200-127569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:127546400-127558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:127546400-127567400	Weak transcription	NHDF-Ad	bronchial
19	chr7:127546400-127569200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:127546400-127569200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:127546400-127569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:127546400-127569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:127546400-127569200	Weak transcription	Placenta	Placenta
24	chr7:127546400-127569200	Weak transcription	Dnd41	blood
25	chr7:127546800-127569000	Weak transcription	Fetal Thymus	thymus
26	chr7:127546800-127569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:127546800-127569200	Weak transcription	Aorta	Aorta
28	chr7:127546800-127569200	Weak transcription	Lung	lung
29	chr7:127547400-127567000	Weak transcription	Liver	Liver
30	chr7:127547800-127569200	Weak transcription	Primary T cells from cord blood	blood
31	chr7:127547800-127569600	Weak transcription	A549	lung
32	chr7:127548000-127567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:127548400-127560400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:127548400-127560600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:127548400-127562800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:127549200-127561000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:127549200-127567600	Weak transcription	NH-A	brain
38	chr7:127549800-127567400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:127550000-127568000	Weak transcription	NHEK	skin
40	chr7:127551200-127569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:127551400-127566800	Weak transcription	Small Intestine	intestine
42	chr7:127551400-127569200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:127551400-127569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:127551600-127569200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:127552400-127569200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:127553400-127567400	Weak transcription	Primary B cells from cord blood	blood
47	chr7:127553400-127569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:127553600-127557600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:127553600-127560400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:127553600-127567000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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