Variant report

Variant	rs57918669
Chromosome Location	chr7:127374906-127374907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127365430..127367078-chr7:127372960..127375815,2	K562	blood:
2	chr7:127371414..127375020-chr7:127377917..127380418,4	K562	blood:
3	chr7:127373308..127374942-chr7:127382785..127385522,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

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]
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]
rs73721270	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]
rs73723044	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
3	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
4	chr7:127347800-127383000	Strong transcription	NHEK	skin
5	chr7:127351400-127375600	Strong transcription	Liver	Liver
6	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:127351600-127382200	Strong transcription	K562	blood
8	chr7:127352600-127375600	Strong transcription	Primary T cells from cord blood	blood
9	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
10	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
11	chr7:127356600-127375600	Strong transcription	Primary B cells from cord blood	blood
12	chr7:127357200-127375200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:127357400-127375000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr7:127357400-127375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
17	chr7:127357600-127375200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:127357600-127375400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:127357800-127378200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:127359800-127375400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr7:127360000-127377800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr7:127360000-127379200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
25	chr7:127360800-127377600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:127361200-127375400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
29	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:127364800-127376800	Strong transcription	Lung	lung
32	chr7:127365000-127376000	Weak transcription	A549	lung
33	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:127366600-127375200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:127366600-127380000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:127366800-127375400	Strong transcription	Osteobl	bone
38	chr7:127367400-127377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:127367800-127375600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:127368800-127391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:127369000-127384800	Weak transcription	Stomach Mucosa	stomach
42	chr7:127369200-127377400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:127369200-127379600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:127369400-127375600	Strong transcription	Dnd41	blood
45	chr7:127369600-127375400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr7:127370000-127375600	Strong transcription	Fetal Intestine Small	intestine
47	chr7:127370000-127391200	Weak transcription	NHDF-Ad	bronchial
48	chr7:127370200-127375400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:127370200-127378200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:127370400-127375200	Strong transcription	Primary hematopoietic stem cells	blood

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