Variant report

Variant	rs73469528
Chromosome Location	chr7:127911718-127911719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127910354..127913433-chr7:127917206..127919846,3	K562	blood:
2	chr7:127906967..127909088-chr7:127909885..127911893,3	K562	blood:
3	chr7:127910354..127914440-chr7:127916901..127919443,4	K562	blood:
4	chr7:127911086..127911789-chr7:128027439..128028326,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs322805	1.00[AMR][1000 genomes]
rs73458954	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127908000-127912400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:127908000-127912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:127908000-127913800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:127908200-127912600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:127908400-127921800	Weak transcription	HSMM	muscle
6	chr7:127908600-127912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:127910800-127911800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr7:127910800-127911800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr7:127910800-127911800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
10	chr7:127910800-127911800	Enhancers	Lung	lung
11	chr7:127910800-127912000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
12	chr7:127910800-127912000	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr7:127910800-127912200	Enhancers	Liver	Liver
14	chr7:127910800-127912200	Enhancers	Spleen	Spleen
15	chr7:127910800-127912400	Bivalent Enhancer	Fetal Heart	heart
16	chr7:127910800-127912400	Enhancers	Placenta	Placenta
17	chr7:127910800-127912400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr7:127910800-127912600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:127911000-127911800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:127911000-127911800	Flanking Active TSS	Ovary	ovary
21	chr7:127911000-127911800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr7:127911000-127912000	Enhancers	Gastric	stomach
23	chr7:127911000-127912200	Active TSS	Brain Substantia Nigra	brain
24	chr7:127911000-127912200	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr7:127911000-127912400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr7:127911000-127912400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr7:127911000-127912400	Enhancers	HMEC	breast
28	chr7:127911000-127912400	Bivalent Enhancer	HUVEC	blood vessel
29	chr7:127911000-127912600	Enhancers	Pancreas	Pancrea
30	chr7:127911200-127911800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:127911200-127911800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:127911200-127911800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:127911200-127911800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:127911200-127911800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
35	chr7:127911200-127912000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:127911200-127912200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:127911200-127912200	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr7:127911200-127912200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:127911200-127912200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
40	chr7:127911200-127912200	Active TSS	Right Atrium	heart
41	chr7:127911200-127912400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
42	chr7:127911400-127911800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr7:127911400-127911800	Flanking Active TSS	Esophagus	oesophagus
44	chr7:127911400-127911800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
45	chr7:127911400-127911800	Flanking Bivalent TSS/Enh	NH-A	brain
46	chr7:127911400-127911800	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr7:127911400-127911800	Flanking Bivalent TSS/Enh	Osteobl	bone
48	chr7:127911400-127912000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:127911400-127912000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr7:127911400-127912000	Active TSS	Rectal Smooth Muscle	rectum

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