Variant report

Variant	rs72952126
Chromosome Location	chr2:113515456-113515457
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113503316..113505733-chr2:113515088..113517638,2	K562	blood:
2	chr2:113510501..113512344-chr2:113514021..113515645,2	K562	blood:
3	chr2:113506687..113509305-chr2:113514115..113515715,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs36046436	1.00[AFR][1000 genomes]
rs3783564	0.90[AFR][1000 genomes]
rs3783587	0.90[AFR][1000 genomes]
rs58616713	1.00[AFR][1000 genomes]
rs59731251	0.95[AFR][1000 genomes]
rs60366269	0.90[AFR][1000 genomes]
rs60561321	0.90[AFR][1000 genomes]
rs6707053	0.90[AFR][1000 genomes]
rs6714649	1.00[AFR][1000 genomes]
rs6722548	1.00[AFR][1000 genomes]
rs6728739	0.80[AFR][1000 genomes]
rs6740867	0.90[AFR][1000 genomes]
rs6755922	1.00[AFR][1000 genomes]
rs6756171	1.00[AFR][1000 genomes]
rs6756392	1.00[AFR][1000 genomes]
rs72950356	1.00[AFR][1000 genomes]
rs72950390	0.90[AFR][1000 genomes]
rs72950392	1.00[AFR][1000 genomes]
rs72952107	1.00[AFR][1000 genomes]
rs72952131	0.90[AFR][1000 genomes]
rs72952187	0.85[AFR][1000 genomes]
rs7609207	1.00[AFR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
6	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:113507400-113519200	Strong transcription	K562	blood
13	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:113507600-113518200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:113508200-113517800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113508200-113519600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:113508200-113519800	Strong transcription	Fetal Thymus	thymus
21	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:113508400-113515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:113508400-113520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:113508800-113516400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:113508800-113519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:113509000-113516000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:113509600-113518600	Weak transcription	Stomach Mucosa	stomach
29	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:113510200-113518400	Strong transcription	NHEK	skin
31	chr2:113510200-113519400	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:113510400-113518000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:113510600-113520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:113510800-113518200	Strong transcription	HMEC	breast
36	chr2:113511000-113517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:113511400-113518400	Strong transcription	HUVEC	blood vessel
38	chr2:113511400-113519800	Strong transcription	A549	lung
39	chr2:113511600-113517800	Strong transcription	HepG2	liver
40	chr2:113511800-113516600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:113511800-113519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:113512600-113516000	Strong transcription	Dnd41	blood
43	chr2:113512600-113517000	Strong transcription	Thymus	Thymus
44	chr2:113512600-113520800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:113512600-113521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:113512800-113516200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr2:113512800-113516400	Weak transcription	Fetal Heart	heart
48	chr2:113512800-113520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:113512800-113521200	Weak transcription	Primary B cells from cord blood	blood
50	chr2:113512800-113521200	Weak transcription	Placenta	Placenta

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