Variant report

Variant	rs73723044
Chromosome Location	chr7:127363522-127363523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127363157..127364758-chr7:127370490..127372919,2	K562	blood:
2	chr7:127363061..127365825-chr7:127368280..127370347,2	K562	blood:
3	chr7:127363018..127366026-chr7:127367125..127369861,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs55820323	0.95[AFR][1000 genomes]
rs56221924	0.95[AFR][1000 genomes]
rs56347144	0.95[AFR][1000 genomes]
rs56347574	0.89[AFR][1000 genomes]
rs57693908	0.89[AFR][1000 genomes]
rs57918669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58102896	0.95[AFR][1000 genomes]
rs58368490	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59806488	0.89[AFR][1000 genomes]
rs60126795	0.89[AFR][1000 genomes]
rs60256957	0.89[AFR][1000 genomes]
rs61165973	0.95[AFR][1000 genomes]
rs61699393	0.95[AFR][1000 genomes]
rs6951386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951924	0.95[AFR][1000 genomes]
rs6956334	0.81[AFR][1000 genomes]
rs6966554	0.95[AFR][1000 genomes]
rs6977011	0.95[AFR][1000 genomes]
rs73720869	0.89[AFR][1000 genomes]
rs73721003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721004	0.95[AFR][1000 genomes]
rs73721005	0.95[AFR][1000 genomes]
rs73721006	0.95[AFR][1000 genomes]
rs73721007	0.95[AFR][1000 genomes]
rs73721008	0.95[AFR][1000 genomes]
rs73721009	0.95[AFR][1000 genomes]
rs73721011	0.95[AFR][1000 genomes]
rs73721012	0.95[AFR][1000 genomes]
rs73721015	0.95[AFR][1000 genomes]
rs73721017	0.95[AFR][1000 genomes]
rs73721018	0.95[AFR][1000 genomes]
rs73721019	0.95[AFR][1000 genomes]
rs73721020	0.95[AFR][1000 genomes]
rs73721021	0.95[AFR][1000 genomes]
rs73721023	0.95[AFR][1000 genomes]
rs73721024	0.95[AFR][1000 genomes]
rs73721025	0.95[AFR][1000 genomes]
rs73721026	0.95[AFR][1000 genomes]
rs73721028	0.81[AFR][1000 genomes]
rs73721029	0.81[AFR][1000 genomes]
rs73721262	1.00[AMR][1000 genomes]
rs73721268	0.81[AFR][1000 genomes]
rs73723031	0.89[AFR][1000 genomes]
rs73723032	0.84[AFR][1000 genomes]
rs73723036	0.89[AFR][1000 genomes]
rs73723037	0.89[AFR][1000 genomes]
rs73723038	0.89[AFR][1000 genomes]
rs73723041	0.89[AFR][1000 genomes]
rs73723043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723062	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723066	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723071	0.95[AFR][1000 genomes];1.00[AMR][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:126 , 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	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
5	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
6	chr7:127339400-127371000	Weak transcription	Right Atrium	heart
7	chr7:127344600-127371200	Weak transcription	Brain Germinal Matrix	brain
8	chr7:127347800-127365200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:127347800-127383000	Strong transcription	NHEK	skin
10	chr7:127349600-127371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:127351400-127365800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:127351400-127365800	Strong transcription	HSMM	muscle
13	chr7:127351400-127366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:127351400-127368400	Weak transcription	Stomach Mucosa	stomach
15	chr7:127351400-127375600	Strong transcription	Liver	Liver
16	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:127351600-127382200	Strong transcription	K562	blood
18	chr7:127351800-127371000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:127352000-127364800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:127352200-127372400	Strong transcription	HepG2	liver
21	chr7:127352600-127375600	Strong transcription	Primary T cells from cord blood	blood
22	chr7:127352800-127370400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:127354000-127370400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:127354200-127365200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:127354200-127365400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:127354200-127368400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:127354200-127368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:127354200-127370600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:127354200-127374000	Weak transcription	Fetal Brain Female	brain
30	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
31	chr7:127354400-127367400	Weak transcription	Right Ventricle	heart
32	chr7:127354400-127370400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:127354400-127370600	Weak transcription	Fetal Kidney	kidney
34	chr7:127354600-127366200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
36	chr7:127356000-127364400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:127356000-127369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:127356600-127363600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:127356600-127375600	Strong transcription	Primary B cells from cord blood	blood
40	chr7:127356800-127364400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:127357200-127364200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:127357200-127367000	Strong transcription	Dnd41	blood
43	chr7:127357200-127369400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr7:127357200-127375200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:127357400-127365000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr7:127357400-127375000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr7:127357400-127375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
50	chr7:127357600-127364600	Strong transcription	NHDF-Ad	bronchial

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