Variant report

Variant	rs75043088
Chromosome Location	chr7:127621324-127621325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127621276..127623489-chr7:127624505..127626499,2	K562	blood:
2	chr7:127614080..127617711-chr7:127619804..127624160,5	K562	blood:
3	chr7:127613474..127616257-chr7:127619787..127621478,2	K562	blood:
4	chr7:127620242..127621934-chr7:127625720..127627385,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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
6	esv3347742	chr7:127619466-127621464	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
3	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
5	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
6	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:127607800-127626800	Weak transcription	Ovary	ovary
8	chr7:127609200-127630800	Weak transcription	NH-A	brain
9	chr7:127609400-127623400	Weak transcription	Pancreas	Pancrea
10	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
11	chr7:127613800-127623400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:127615800-127625000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:127616200-127623800	Weak transcription	HSMMtube	muscle
16	chr7:127616200-127624600	Weak transcription	Right Ventricle	heart
17	chr7:127616400-127624800	Weak transcription	Left Ventricle	heart
18	chr7:127616800-127625000	Weak transcription	Lung	lung
19	chr7:127617000-127623200	Weak transcription	Fetal Heart	heart
20	chr7:127617000-127628800	Weak transcription	Spleen	Spleen
21	chr7:127617200-127621400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:127617200-127623200	Weak transcription	Gastric	stomach
23	chr7:127617200-127623800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:127617200-127625200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:127617200-127625800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:127617200-127627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:127617200-127628400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:127617200-127630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:127617200-127631000	Weak transcription	Esophagus	oesophagus
30	chr7:127617400-127626000	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:127617400-127626600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:127617400-127626800	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:127617400-127627400	Weak transcription	Fetal Brain Male	brain
34	chr7:127617600-127626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:127617600-127627200	Weak transcription	Brain Anterior Caudate	brain
36	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
37	chr7:127618200-127623400	Weak transcription	NHEK	skin
38	chr7:127618200-127626800	Weak transcription	Fetal Lung	lung
39	chr7:127618200-127633400	Weak transcription	Hela-S3	cervix
40	chr7:127618600-127621600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:127618600-127623400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:127618600-127624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:127618600-127627000	Weak transcription	Osteobl	bone
44	chr7:127618600-127627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:127618600-127631200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:127618800-127637800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:127619000-127630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:127619400-127631000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:127619400-127631000	Weak transcription	A549	lung
50	chr7:127619600-127621800	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links