Variant report

Variant	rs2430413
Chromosome Location	chr12:4313217-4313218
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4310884..4313842-chr12:4315895..4319716,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10774207	1.00[EUR][1000 genomes]
rs2534775	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534776	1.00[EUR][1000 genomes]
rs2534777	1.00[EUR][1000 genomes]
rs2534778	1.00[EUR][1000 genomes]
rs2534779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534786	1.00[EUR][1000 genomes]
rs2540122	1.00[EUR][1000 genomes]
rs2540123	1.00[EUR][1000 genomes]
rs2540129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964101	1.00[EUR][1000 genomes]
rs7974877	1.00[EUR][1000 genomes]
rs7976361	1.00[EUR][1000 genomes]
rs7980172	1.00[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4303200-4313400	Weak transcription	Right Atrium	heart
2	chr12:4309000-4315400	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:4310200-4313400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:4310800-4314800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:4311200-4314600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:4311400-4314600	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:4311400-4315600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:4311600-4314000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:4312000-4313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:4312400-4315800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:4312600-4314400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:4312800-4313400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:4312800-4313400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:4312800-4313600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:4312800-4313800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:4312800-4313800	Enhancers	GM12878-XiMat	blood
17	chr12:4312800-4313800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:4312800-4314000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr12:4312800-4314000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:4312800-4314400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:4312800-4315000	Enhancers	Fetal Thymus	thymus
22	chr12:4313000-4313400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:4313000-4313600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:4313000-4313800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:4313200-4313400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:4313200-4313400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:4313200-4313800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:4313200-4315600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links