Variant report

Variant	rs61743021
Chromosome Location	chr7:127637857-127637858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127635606..127639258-chr7:127641258..127643536,3	K562	blood:
2	chr7:127627591..127629980-chr7:127636383..127638800,3	K562	blood:
3	chr7:127632086..127635094-chr7:127636787..127638892,4	K562	blood:
4	chr7:127637391..127639258-chr7:127640578..127642827,2	K562	blood:
5	chr7:127622847..127627413-chr7:127635236..127639415,6	K562	blood:
6	chr7:127622847..127631238-chr7:127633836..127639415,10	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEP-5	chr7:127637562-127640130	NONHSAT123162

No data

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1019578	1.00[EUR][1000 genomes]
rs10228031	1.00[EUR][1000 genomes]
rs1025075	1.00[EUR][1000 genomes]
rs10487503	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12536253	0.85[ASN][1000 genomes]
rs1440973	1.00[EUR][1000 genomes]
rs1468702	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17133046	1.00[EUR][1000 genomes]
rs17151515	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151575	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	0.90[ASN][1000 genomes]
rs17151650	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151837	1.00[EUR][1000 genomes]
rs1833146	1.00[EUR][1000 genomes]
rs1966517	1.00[EUR][1000 genomes]
rs2402873	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325438	1.00[EUR][1000 genomes]
rs325439	1.00[EUR][1000 genomes]
rs325443	1.00[EUR][1000 genomes]
rs325448	1.00[EUR][1000 genomes]
rs325449	1.00[EUR][1000 genomes]
rs325450	1.00[EUR][1000 genomes]
rs4728078	1.00[EUR][1000 genomes]
rs4728082	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731379	1.00[EUR][1000 genomes]
rs4731382	1.00[EUR][1000 genomes]
rs4731383	1.00[EUR][1000 genomes]
rs4731384	1.00[EUR][1000 genomes]
rs4731390	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731391	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58395975	1.00[EUR][1000 genomes]
rs6467146	1.00[EUR][1000 genomes]
rs6467149	1.00[EUR][1000 genomes]
rs6467154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946590	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950211	1.00[EUR][1000 genomes]
rs6952123	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964714	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6972398	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6972816	1.00[ASN][1000 genomes]
rs6975274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721253	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721258	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721261	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73721264	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794303	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7804310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
2	chr7:127621000-127643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:127627200-127644800	Weak transcription	Fetal Brain Female	brain
4	chr7:127628400-127639400	Strong transcription	GM12878-XiMat	blood
5	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:127630200-127638000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr7:127630400-127638800	Strong transcription	Primary B cells from cord blood	blood
8	chr7:127630400-127644000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:127630600-127638600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:127630600-127641400	Strong transcription	Primary T cells from cord blood	blood
11	chr7:127631200-127655600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:127632000-127640600	Weak transcription	Gastric	stomach
14	chr7:127632400-127641000	Weak transcription	Colonic Mucosa	Colon
15	chr7:127632400-127643400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:127632400-127643600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:127632400-127643800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
19	chr7:127632800-127639200	Enhancers	Fetal Heart	heart
20	chr7:127633600-127643600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:127633800-127638000	Enhancers	Fetal Muscle Leg	muscle
22	chr7:127634000-127641000	Weak transcription	Hela-S3	cervix
23	chr7:127634200-127643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:127634200-127643600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:127634200-127657800	Weak transcription	NH-A	brain
26	chr7:127634400-127639400	Weak transcription	Fetal Intestine Large	intestine
27	chr7:127634400-127640600	Weak transcription	Esophagus	oesophagus
28	chr7:127634400-127641400	Weak transcription	NHEK	skin
29	chr7:127634600-127639600	Weak transcription	Fetal Intestine Small	intestine
30	chr7:127634600-127642600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:127634600-127646000	Weak transcription	Thymus	Thymus
32	chr7:127635000-127638200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:127635000-127638600	Enhancers	HSMMtube	muscle
34	chr7:127635000-127639000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:127635200-127638000	Enhancers	NHLF	lung
36	chr7:127635400-127638800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:127635600-127639200	Enhancers	Fetal Lung	lung
38	chr7:127635600-127640600	Weak transcription	Pancreas	Pancrea
39	chr7:127635600-127642600	Weak transcription	Placenta	Placenta
40	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:127635800-127638600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:127635800-127638800	Weak transcription	Psoas Muscle	Psoas
43	chr7:127635800-127639200	Strong transcription	Fetal Thymus	thymus
44	chr7:127635800-127640800	Enhancers	Adipose Nuclei	Adipose
45	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:127636000-127638000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:127636000-127640600	Weak transcription	Fetal Kidney	kidney
48	chr7:127636000-127641000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:127636000-127646000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial

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