Variant report

Variant	rs12111611
Chromosome Location	chr7:21807751-21807752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10156026	0.82[JPT][hapmap]
rs10227372	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268039	0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268330	0.88[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10271832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983051	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17145316	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2390552	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2390553	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2390555	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3735523	0.86[JPT][hapmap]
rs4722054	0.88[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6461598	0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs6974214	0.87[EUR][1000 genomes]
rs6979777	0.88[JPT][hapmap]
rs73277712	0.87[EUR][1000 genomes]
rs7791639	0.88[JPT][hapmap]
rs961526	0.88[JPT][hapmap]
rs979669	0.88[JPT][hapmap]

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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1016063	chr7:21740433-21808410	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470177	chr7:21801125-21817048	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21796600-21810000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:21803400-21808000	Enhancers	Fetal Heart	heart
3	chr7:21804000-21808000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:21805200-21810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:21805400-21810200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:21805400-21810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:21805600-21809600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:21805600-21813800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:21805600-21813800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:21805800-21810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:21806200-21812400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:21806800-21807800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:21806800-21807800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:21807000-21810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:21807200-21811600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:21807600-21810000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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