Variant report

Variant	rs34980225
Chromosome Location	chr7:127487780-127487781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127479033..127480605-chr7:127487711..127489241,2	MCF-7	breast:
2	chr7:127444575..127446482-chr7:127486853..127488429,2	K562	blood:
3	chr7:127481994..127486437-chr7:127486807..127490045,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10487496	1.00[AMR][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes]
rs17660187	0.89[ASN][1000 genomes]
rs17662800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17663644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718364	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17730185	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17733783	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272374	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34188289	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34209480	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34250605	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34844752	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35120956	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35307919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521470	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35585856	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35602492	0.89[ASN][1000 genomes]
rs35640048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35872516	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36043097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36046498	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757762	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757785	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3779525	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808062	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808090	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3808111	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3808115	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58341788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58451280	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62481380	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481384	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62481453	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6948752	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746238	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7788592	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7808161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127457000-127497800	Weak transcription	Gastric	stomach
2	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
4	chr7:127469400-127488800	Weak transcription	Thymus	Thymus
5	chr7:127471800-127495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:127474000-127495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:127474200-127490400	Weak transcription	NHLF	lung
8	chr7:127476600-127496400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:127477800-127493200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:127478200-127487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:127478400-127488600	Weak transcription	A549	lung
12	chr7:127479600-127487800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:127479600-127487800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:127479600-127493200	Weak transcription	Fetal Lung	lung
15	chr7:127480400-127487800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:127480600-127487800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:127480800-127488000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:127481200-127488000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:127481600-127489800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:127481800-127495600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:127482200-127492000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:127483200-127488000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:127483200-127490600	Strong transcription	Primary T cells from cord blood	blood
26	chr7:127483200-127491200	Strong transcription	HepG2	liver
27	chr7:127483200-127497600	Weak transcription	Small Intestine	intestine
28	chr7:127483400-127490400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:127483600-127495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:127484000-127497800	Weak transcription	Lung	lung
31	chr7:127484400-127488000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:127484600-127487800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:127484600-127490400	Weak transcription	Right Ventricle	heart
34	chr7:127484600-127496600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:127484600-127497200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:127484600-127497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:127484600-127497800	Weak transcription	NHEK	skin
38	chr7:127484600-127498000	Weak transcription	Left Ventricle	heart
39	chr7:127484600-127498800	Weak transcription	Esophagus	oesophagus
40	chr7:127484800-127494400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:127484800-127498600	Weak transcription	Colonic Mucosa	Colon
42	chr7:127485000-127487800	Weak transcription	Right Atrium	heart
43	chr7:127485000-127488000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:127485000-127489400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:127485000-127489800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:127485000-127490200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:127485000-127490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:127485000-127490400	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:127485000-127497800	Weak transcription	Pancreas	Pancrea
50	chr7:127485000-127512000	Weak transcription	Aorta	Aorta

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