Variant report

Variant	rs2989595
Chromosome Location	chr13:30112679-30112680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30107535..30109992-chr13:30110581..30113126,3	K562	blood:
2	chr13:30111583..30114649-chr13:30115841..30119376,3	K562	blood:
3	chr13:30112090..30114649-chr13:30117071..30118853,2	K562	blood:
4	chr13:30112240..30114585-chr13:30159396..30161968,2	K562	blood:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1571785	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs3011604	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs74042327	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
4	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:30098000-30117200	Weak transcription	Small Intestine	intestine
10	chr13:30098800-30129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr13:30099000-30114200	Weak transcription	Fetal Heart	heart
12	chr13:30102800-30113400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:30103800-30122200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:30104200-30113000	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:30104800-30124600	Weak transcription	Right Ventricle	heart
18	chr13:30105000-30120000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:30105000-30120200	Weak transcription	Brain Substantia Nigra	brain
20	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
21	chr13:30106600-30125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr13:30107000-30123200	Weak transcription	K562	blood
23	chr13:30107200-30120600	Weak transcription	Fetal Thymus	thymus
24	chr13:30107200-30122200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:30107200-30123200	Weak transcription	A549	lung
26	chr13:30107200-30124200	Weak transcription	Placenta	Placenta
27	chr13:30107400-30114800	Weak transcription	Left Ventricle	heart
28	chr13:30107400-30115000	Weak transcription	Aorta	Aorta
29	chr13:30107400-30122600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:30107400-30129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr13:30107800-30114200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:30107800-30119800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr13:30108000-30122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:30108400-30113000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:30108800-30114200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:30108800-30120000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr13:30109000-30113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:30109400-30112800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:30109800-30113400	Enhancers	Duodenum Mucosa	Duodenum
40	chr13:30110200-30113400	Weak transcription	GM12878-XiMat	blood
41	chr13:30110400-30113400	Weak transcription	HepG2	liver
42	chr13:30110400-30113600	Enhancers	HUVEC	blood vessel
43	chr13:30110400-30114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:30110400-30117400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:30110400-30120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:30110400-30122200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr13:30110400-30123200	Weak transcription	Lung	lung
48	chr13:30110400-30123400	Weak transcription	Spleen	Spleen
49	chr13:30110400-30123400	Weak transcription	NHLF	lung
50	chr13:30110400-30124200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links