Variant report

Variant	rs12301500
Chromosome Location	chr12:42316027-42316028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10459289	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880195	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880201	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880202	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880203	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880204	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880205	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880206	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880207	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880208	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880209	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880210	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880211	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181226	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181258	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181260	1.00[AMR][1000 genomes]
rs11181263	1.00[AMR][1000 genomes]
rs11181266	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181267	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181268	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181270	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181271	1.00[AMR][1000 genomes]
rs12228308	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12306858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1541491	1.00[AMR][1000 genomes]
rs1541492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2109533	1.00[AMR][1000 genomes]
rs2159587	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2191514	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28540140	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59711995	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60131564	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	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42312200-42323600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:42312400-42326000	Weak transcription	Psoas Muscle	Psoas
3	chr12:42313000-42321200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:42313800-42316400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:42314000-42326000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:42314200-42316200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:42314200-42316200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:42314400-42316200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr12:42314600-42316200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:42314600-42317600	Enhancers	Brain Germinal Matrix	brain
11	chr12:42315200-42316200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:42315400-42316800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:42315600-42318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:42315800-42316400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:42316000-42316600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:42316000-42317000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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