Variant report

Variant	rs978540
Chromosome Location	chr12:45043093-45043094
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	chr12:45035370..45037338-chr12:45042331..45044503,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1037433	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1037434	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506256	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748400	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785515	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880655	0.81[EUR][1000 genomes]
rs10880657	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880658	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880659	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880660	0.99[ASN][1000 genomes]
rs10880666	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10880673	0.86[EUR][1000 genomes]
rs11182559	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182596	0.99[ASN][1000 genomes]
rs11182599	0.93[ASN][1000 genomes]
rs11182634	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11182635	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11182636	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11182640	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12303497	0.82[EUR][1000 genomes]
rs12312100	0.83[EUR][1000 genomes]
rs12812414	0.83[ASN][1000 genomes]
rs12815257	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1563043	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1850406	0.83[ASN][1000 genomes]
rs1869162	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1966855	0.83[EUR][1000 genomes]
rs2060840	0.85[EUR][1000 genomes]
rs2084843	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305448	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4544065	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768066	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768563	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768564	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs581473	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs583575	0.94[ASN][1000 genomes]
rs605722	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs615760	0.94[ASN][1000 genomes]
rs628408	0.94[ASN][1000 genomes]
rs632481	0.93[ASN][1000 genomes]
rs636843	0.91[ASN][1000 genomes]
rs678663	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs688669	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7295999	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299365	0.98[ASN][1000 genomes]
rs7301539	0.99[ASN][1000 genomes]
rs7302107	0.81[ASN][1000 genomes]
rs7308509	0.86[EUR][1000 genomes]
rs7310844	0.99[ASN][1000 genomes]
rs7314643	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs765769	0.83[EUR][1000 genomes]
rs7958389	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968076	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970849	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs838973	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs966383	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2762978	chr12:45042460-45051490	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:45015000-45048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:45035400-45043200	Weak transcription	Fetal Stomach	stomach
7	chr12:45036600-45046600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:45036800-45043200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:45041800-45043800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:45042000-45043400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:45042400-45043200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:45042400-45043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:45042400-45047600	Weak transcription	Fetal Brain Female	brain
14	chr12:45042400-45047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:45042400-45047800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:45042600-45043200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:45042600-45043800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:45042800-45043600	Enhancers	Fetal Brain Male	brain
19	chr12:45043000-45043200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:45043000-45043600	Enhancers	HUES48 Cell Line	embryonic stem cell

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