Variant report

Variant	rs73491576
Chromosome Location	chr7:140263226-140263227
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140262539..140265116-chr7:140268602..140271008,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1568640	1.00[AMR][1000 genomes]
rs58620263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60480710	1.00[AMR][1000 genomes]
rs60847193	1.00[AMR][1000 genomes]
rs73483934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485799	0.80[AFR][1000 genomes]
rs73487622	0.85[AFR][1000 genomes]
rs73487670	1.00[AFR][1000 genomes]
rs73491542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491552	1.00[AMR][1000 genomes]
rs73491556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491595	1.00[AMR][1000 genomes]
rs73500429	1.00[AMR][1000 genomes]
rs73502154	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140242000-140268000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:140242400-140263800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:140242800-140266800	Weak transcription	Lung	lung
4	chr7:140242800-140266800	Weak transcription	Right Atrium	heart
5	chr7:140244800-140266800	Weak transcription	Liver	Liver
6	chr7:140245400-140266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:140247000-140276400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
9	chr7:140251400-140263800	Weak transcription	NHEK	skin
10	chr7:140251800-140266600	Strong transcription	Fetal Muscle Leg	muscle
11	chr7:140252400-140266200	Strong transcription	Fetal Stomach	stomach
12	chr7:140253800-140264800	Weak transcription	Small Intestine	intestine
13	chr7:140254000-140266200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:140255200-140267000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr7:140256200-140264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:140258000-140266800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:140258200-140267400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:140259200-140266600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:140259400-140264600	Weak transcription	Placenta	Placenta
20	chr7:140259400-140266200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:140259600-140264000	Weak transcription	Hela-S3	cervix
22	chr7:140259600-140264600	Weak transcription	Left Ventricle	heart
23	chr7:140259600-140268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:140259800-140264000	Weak transcription	Adipose Nuclei	Adipose
25	chr7:140259800-140264800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:140259800-140266800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:140259800-140267400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:140260000-140264600	Weak transcription	Fetal Intestine Small	intestine
29	chr7:140260000-140266600	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:140260200-140264600	Weak transcription	Brain Substantia Nigra	brain
31	chr7:140260200-140266200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:140260200-140266200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:140260200-140266800	Weak transcription	Right Ventricle	heart
34	chr7:140260200-140273400	Weak transcription	Fetal Brain Male	brain
35	chr7:140260400-140264800	Weak transcription	Fetal Brain Female	brain
36	chr7:140261800-140284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:140262000-140265200	Strong transcription	Ovary	ovary
38	chr7:140262200-140264000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:140262200-140266000	Weak transcription	Fetal Intestine Large	intestine
40	chr7:140262400-140263800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:140262400-140263800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:140262400-140263800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:140262400-140263800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:140262400-140264000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:140262400-140264200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:140262600-140263400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:140262600-140263400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:140262600-140263400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:140262600-140263400	Enhancers	Fetal Heart	heart
50	chr7:140262600-140263800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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