Variant report

Variant	rs41300725
Chromosome Location	chr7:99276336-99276337
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99270833..99272685-chr7:99275092..99276816,2	K562	blood:
2	chr7:99272011..99273927-chr7:99275707..99277510,2	K562	blood:
3	chr7:99275381..99276881-chr7:99296561..99298122,2	MCF-7	breast:
4	chr7:99262294..99263935-chr7:99275134..99276805,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs28365076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41301655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41303952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45571732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45613141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55817676	0.89[AFR][1000 genomes]
rs55863343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56145886	0.89[AFR][1000 genomes]
rs58895239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406803	1.00[AMR][1000 genomes]
rs73408528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410637	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410646	0.95[AFR][1000 genomes];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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99235800-99276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:99243000-99278800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:99243600-99276800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:99251600-99276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99255800-99277000	Weak transcription	Fetal Brain Male	brain
6	chr7:99258400-99276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:99258600-99276600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:99260200-99277000	Weak transcription	Spleen	Spleen
9	chr7:99260600-99276600	Weak transcription	Adipose Nuclei	Adipose
10	chr7:99260600-99276800	Weak transcription	Left Ventricle	heart
11	chr7:99261400-99277000	Weak transcription	Small Intestine	intestine
12	chr7:99263600-99277400	Weak transcription	Aorta	Aorta
13	chr7:99269000-99276600	Weak transcription	HMEC	breast
14	chr7:99273000-99276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:99273000-99276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:99273200-99276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:99273400-99277000	Transcr. at gene 5' and 3'	Liver	Liver
18	chr7:99273800-99290400	Weak transcription	Primary T cells from cord blood	blood
19	chr7:99274400-99276800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:99274600-99276600	Enhancers	K562	blood
21	chr7:99275000-99276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:99275000-99276600	Weak transcription	NHDF-Ad	bronchial
23	chr7:99275000-99277600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:99275000-99277600	Active TSS	Stomach Mucosa	stomach
25	chr7:99275200-99276600	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:99275400-99277400	Active TSS	Fetal Stomach	stomach
27	chr7:99275400-99277800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:99275600-99276800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:99275600-99277800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:99275800-99276400	Weak transcription	Fetal Lung	lung
31	chr7:99275800-99276600	Enhancers	NHEK	skin
32	chr7:99275800-99276800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:99275800-99277600	Active TSS	Colonic Mucosa	Colon
34	chr7:99275800-99277600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:99276000-99276400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:99276000-99276600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:99276000-99276800	Weak transcription	Lung	lung
38	chr7:99276000-99276800	Active TSS	Pancreas	Pancrea
39	chr7:99276000-99276800	Weak transcription	Psoas Muscle	Psoas
40	chr7:99276000-99277600	Active TSS	Duodenum Mucosa	Duodenum
41	chr7:99276000-99277600	Active TSS	Esophagus	oesophagus
42	chr7:99276000-99277600	Active TSS	Gastric	stomach
43	chr7:99276000-99277600	Flanking Active TSS	A549	lung
44	chr7:99276000-99278200	Enhancers	HepG2	liver
45	chr7:99276200-99276400	Active TSS	Fetal Intestine Small	intestine
46	chr7:99276200-99276800	Active TSS	Fetal Intestine Large	intestine

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