Variant report

Variant	rs2390478
Chromosome Location	chr7:21210113-21210114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21209257..21211972-chr7:21212979..21215185,3	K562	blood:
2	chr7:21205043..21206551-chr7:21208700..21211032,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12673430	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4236302	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67469837	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21208000-21211400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21208400-21210200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:21208600-21210400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:21208600-21210600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:21208600-21212400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:21208800-21210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:21208800-21210400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:21209000-21210200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:21209000-21210200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:21209200-21210200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:21209400-21210200	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr7:21209600-21210200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:21209600-21210200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:21209800-21210200	Enhancers	HMEC	breast
15	chr7:21209800-21210400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:21209800-21210400	Bivalent Enhancer	Brain Germinal Matrix	brain
17	chr7:21210000-21210200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:21210000-21210400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:21210000-21210400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:21210000-21210600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:21210000-21210600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:21210000-21212200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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