Variant report

Variant	rs13388310
Chromosome Location	chr2:39964135-39964136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39962607..39965298-chr2:39967236..39969743,2	K562	blood:
2	chr2:39962720..39965298-chr2:39968180..39969743,3	K562	blood:
3	chr2:39956511..39959313-chr2:39963423..39966222,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10198734	1.00[CHB][hapmap]
rs17024299	1.00[CHB][hapmap]
rs17024307	1.00[CHB][hapmap]
rs17024325	1.00[CHB][hapmap]
rs2058621	1.00[CHB][hapmap]
rs2110672	1.00[CHB][hapmap]
rs2110673	1.00[CHB][hapmap]
rs2160207	1.00[CHB][hapmap]
rs2192712	1.00[CHB][hapmap]
rs6708232	1.00[CHB][hapmap]
rs6716262	1.00[CHB][hapmap]
rs7604790	1.00[CHB][hapmap]

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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
2	chr2:39951000-39964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:39951200-39964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39952000-39964800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:39956200-39966400	Weak transcription	Small Intestine	intestine
6	chr2:39956800-39964600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
8	chr2:39957600-39964200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:39958800-39964400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:39958800-39964600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:39959000-39971200	Strong transcription	Fetal Thymus	thymus
12	chr2:39959400-39966400	Strong transcription	Fetal Intestine Large	intestine
13	chr2:39959400-39967400	Strong transcription	A549	lung
14	chr2:39959400-39971000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:39959400-39974200	Strong transcription	Primary B cells from cord blood	blood
16	chr2:39959600-39967200	Strong transcription	HepG2	liver
17	chr2:39959800-39967000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:39960000-39964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:39960000-39964800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:39960000-39969000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:39960000-39971000	Strong transcription	K562	blood
22	chr2:39960000-39971200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:39960000-39971400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:39960000-39971800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:39960200-39965000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:39960200-39971000	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:39960200-39973800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:39960200-39987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:39960400-39965000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:39960400-39970200	Strong transcription	GM12878-XiMat	blood
31	chr2:39960400-39973600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:39960400-39983000	Weak transcription	Stomach Mucosa	stomach
33	chr2:39960600-39964600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:39960800-39964600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:39960800-39964800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:39961000-39966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:39961200-39974600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:39961400-39964200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:39961400-39969800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:39961400-39984200	Weak transcription	Colonic Mucosa	Colon
41	chr2:39961600-39968800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:39961600-39971200	Strong transcription	Dnd41	blood
43	chr2:39961800-39964200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:39961800-39964200	Strong transcription	Colon Smooth Muscle	Colon
45	chr2:39961800-39964200	Genic enhancers	HMEC	breast
46	chr2:39961800-39964600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:39961800-39971200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:39962000-39965000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:39962000-39965200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:39962000-39970600	Strong transcription	Primary B cells from peripheral blood	blood

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