Variant report

Variant	rs2286909
Chromosome Location	chr7:127528376-127528377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3808113	1.00[AFR][1000 genomes]
rs41281725	1.00[AFR][1000 genomes]
rs55726025	1.00[AFR][1000 genomes]
rs55764223	1.00[AFR][1000 genomes]
rs55995107	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127505600-127528400	Weak transcription	Hela-S3	cervix
4	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
5	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:127514800-127531000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:127516400-127528600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:127521800-127529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:127522400-127530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:127523200-127531200	Weak transcription	Fetal Kidney	kidney
13	chr7:127524200-127529200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:127524400-127529000	Enhancers	Brain Angular Gyrus	brain
15	chr7:127524400-127529200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:127524400-127529200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:127524600-127529400	Strong transcription	HepG2	liver
18	chr7:127524800-127528800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:127524800-127528800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:127524800-127529200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:127524800-127538400	Weak transcription	Psoas Muscle	Psoas
22	chr7:127524800-127540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:127525200-127528800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:127525200-127529200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:127525200-127536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:127525800-127528600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:127525800-127528600	Weak transcription	Aorta	Aorta
28	chr7:127526000-127535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:127526200-127528400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:127526200-127528600	Weak transcription	Ovary	ovary
31	chr7:127526200-127531000	Weak transcription	Brain Anterior Caudate	brain
32	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:127526400-127528400	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:127526400-127528400	Weak transcription	Fetal Stomach	stomach
35	chr7:127526400-127529600	Strong transcription	GM12878-XiMat	blood
36	chr7:127526400-127531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:127526400-127531600	Strong transcription	NHEK	skin
38	chr7:127526400-127532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:127526400-127538000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:127526600-127528400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:127526600-127535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:127526600-127540600	Weak transcription	Fetal Brain Female	brain
43	chr7:127526600-127540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:127526800-127528400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:127526800-127528400	Weak transcription	Stomach Mucosa	stomach
46	chr7:127526800-127535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:127526800-127539600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:127527000-127528400	Weak transcription	NHDF-Ad	bronchial
49	chr7:127527000-127529200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr7:127527000-127530200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links