Variant report

Variant	rs7581123
Chromosome Location	chr2:39637328-39637329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39635276..39640508-chr2:39640941..39645614,10	K562	blood:
2	chr2:39626974..39629375-chr2:39635445..39637433,2	MCF-7	breast:
3	chr2:39637044..39640702-chr2:39646028..39648764,3	K562	blood:
4	chr2:39635276..39637954-chr2:39640941..39644825,4	K562	blood:
5	chr2:39637192..39639411-chr2:39655516..39658352,2	K562	blood:
6	chr2:39625232..39628414-chr2:39637317..39639794,4	K562	blood:
7	chr2:39635451..39641229-chr2:39641645..39645299,6	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12105018	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57107827	0.84[AMR][1000 genomes]
rs57164521	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58019817	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61344670	0.82[AMR][1000 genomes]
rs6706951	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6722096	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6725496	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6725704	0.84[AMR][1000 genomes]
rs6759388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72914206	0.84[AMR][1000 genomes]
rs72925244	0.80[AFR][1000 genomes]
rs72925278	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72925283	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72925290	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927103	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927107	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927108	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927110	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927119	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72927143	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72929164	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931131	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931150	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931159	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931161	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931172	0.84[AMR][1000 genomes]
rs7566368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7592925	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7609233	0.90[AFR][1000 genomes];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	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
2	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
5	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:39627400-39639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:39630400-39637400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:39630800-39640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:39631000-39638200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:39631800-39638600	Weak transcription	Fetal Stomach	stomach
11	chr2:39632200-39637600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:39632200-39638400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:39632400-39638600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:39632400-39643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:39632600-39639200	Enhancers	Adipose Nuclei	Adipose
16	chr2:39632600-39640400	Weak transcription	Brain Angular Gyrus	brain
17	chr2:39632600-39641400	Enhancers	Fetal Heart	heart
18	chr2:39632800-39637800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:39632800-39638400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:39632800-39639600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:39633000-39638400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:39633000-39638400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:39633000-39640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:39633000-39641200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:39633000-39644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:39633400-39637800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:39633600-39637800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:39633600-39638000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:39633800-39637400	Enhancers	NHLF	lung
30	chr2:39633800-39637600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:39634000-39637400	Enhancers	HepG2	liver
32	chr2:39634000-39637800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:39634000-39639000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:39634400-39637400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:39634400-39637400	Enhancers	Dnd41	blood
36	chr2:39634400-39637600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:39634400-39637800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:39634400-39638200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:39634400-39641000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:39634600-39637400	Enhancers	Right Ventricle	heart
41	chr2:39634600-39637600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:39634600-39637600	Enhancers	Psoas Muscle	Psoas
43	chr2:39634600-39637800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:39634600-39637800	Enhancers	Small Intestine	intestine
45	chr2:39634600-39638400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:39634600-39638800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:39634600-39638800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:39634600-39643800	Weak transcription	Fetal Brain Female	brain
49	chr2:39634800-39637400	Enhancers	Fetal Kidney	kidney
50	chr2:39634800-39637600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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