Variant report

Variant	rs34250605
Chromosome Location	chr7:127569968-127569969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127569906..127572295-chr7:127576396..127579009,2	K562	blood:
2	chr7:127560049..127563219-chr7:127566241..127571212,6	K562	blood:
3	chr7:127568808..127571707-chr7:127574376..127576396,4	K562	blood:
4	chr7:127568481..127572943-chr7:127573201..127576396,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

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]
rs17663644	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17718364	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17730185	0.89[AMR][1000 genomes]
rs17730294	0.89[AMR][1000 genomes]
rs17733783	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272374	0.85[AFR][1000 genomes]
rs34188289	0.85[AFR][1000 genomes]
rs34209480	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34844752	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34874680	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34980225	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35307919	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35521470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35585856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35602492	0.83[ASN][1000 genomes]
rs35640048	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35872516	0.85[AFR][1000 genomes]
rs36043097	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36046498	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3757762	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3757785	0.85[AFR][1000 genomes]
rs3779525	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808062	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808090	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58341788	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481380	0.85[AFR][1000 genomes]
rs62481384	0.85[AFR][1000 genomes];0.89[AMR][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];0.90[ASN][1000 genomes]
rs6948752	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737242	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs746238	0.85[AFR][1000 genomes]
rs7788592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7808161	0.85[AFR][1000 genomes];0.89[AMR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127562200-127589800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:127567000-127574200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:127567200-127571200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:127567600-127570400	Weak transcription	Fetal Kidney	kidney
5	chr7:127567600-127581400	Strong transcription	K562	blood
6	chr7:127567800-127571200	Weak transcription	Right Ventricle	heart
7	chr7:127567800-127571600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:127567800-127571600	Weak transcription	Fetal Brain Female	brain
9	chr7:127567800-127573000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:127567800-127573400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:127567800-127577200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:127568000-127576200	Strong transcription	NHEK	skin
13	chr7:127568200-127577200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:127568200-127583400	Weak transcription	Fetal Heart	heart
15	chr7:127568200-127594000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:127568400-127570200	Weak transcription	Stomach Mucosa	stomach
17	chr7:127568400-127571400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:127568400-127573200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:127568600-127577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:127568800-127572000	Strong transcription	HSMM	muscle
21	chr7:127569000-127570000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:127569000-127571800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:127569000-127571800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:127569000-127572200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:127569000-127572200	Strong transcription	Fetal Thymus	thymus
26	chr7:127569000-127574400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:127569000-127574400	Strong transcription	Liver	Liver
28	chr7:127569000-127574800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr7:127569000-127576600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:127569200-127570000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr7:127569200-127570000	Strong transcription	Psoas Muscle	Psoas
32	chr7:127569200-127570200	Strong transcription	Aorta	Aorta
33	chr7:127569200-127570400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:127569200-127570400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr7:127569200-127570400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:127569200-127570600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:127569200-127570600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:127569200-127570600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:127569200-127570600	Genic enhancers	Gastric	stomach
40	chr7:127569200-127570600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:127569200-127570600	Strong transcription	Spleen	Spleen
42	chr7:127569200-127570800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:127569200-127570800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:127569200-127570800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:127569200-127570800	Strong transcription	Lung	lung
46	chr7:127569200-127570800	Genic enhancers	Rectal Mucosa Donor 29	rectum
47	chr7:127569200-127570800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:127569200-127571000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:127569200-127571000	Genic enhancers	Primary B cells from cord blood	blood
50	chr7:127569200-127571000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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