Variant report

Variant	rs7307673
Chromosome Location	chr12:50238204-50238205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50217971..50224800-chr12:50231213..50239207,27	MCF-7	breast:
2	chr12:50216965..50224421-chr12:50234869..50238255,17	MCF-7	breast:
3	chr12:50133628..50137162-chr12:50236178..50238766,3	MCF-7	breast:
4	chr12:50134026..50138215-chr12:50236682..50241219,8	K562	blood:
5	chr12:50232691..50234266-chr12:50238098..50240277,2	K562	blood:
6	chr12:50235029..50238212-chr12:50416884..50420841,4	K562	blood:
7	chr12:50237689..50241019-chr12:50242917..50244785,3	K562	blood:

Variant related genes	Relation type
ENSG00000161800	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000167566	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1044677	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747567	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747568	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783321	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783323	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783326	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875984	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1563168	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869504	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965873	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1975732	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271687	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271688	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2336059	0.87[EUR][1000 genomes]
rs3741557	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741558	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4290311	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4391887	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4898512	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4898513	0.91[EUR][1000 genomes]
rs4898536	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898537	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898539	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67723963	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7133995	0.98[ASN][1000 genomes]
rs7137210	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7295882	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302465	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306374	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310206	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7954572	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7967564	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969178	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972100	0.84[EUR][1000 genomes]
rs9805137	0.88[EUR][1000 genomes];0.98[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50237600-50238800	Weak transcription	Fetal Intestine Large	intestine
2	chr12:50237600-50238800	Weak transcription	Thymus	Thymus
3	chr12:50237600-50238800	Enhancers	Hela-S3	cervix
4	chr12:50237600-50240600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:50237600-50240600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:50237600-50240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:50237600-50240800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:50237600-50240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:50237600-50241000	Weak transcription	Fetal Thymus	thymus
10	chr12:50237600-50261200	Weak transcription	Right Atrium	heart
11	chr12:50237800-50240600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:50237800-50240600	Weak transcription	Primary T cells from cord blood	blood
13	chr12:50237800-50240600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:50237800-50240600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:50237800-50240600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:50237800-50240600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:50237800-50240600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:50237800-50240600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:50237800-50240600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:50237800-50240800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:50237800-50240800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:50237800-50240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:50238000-50240600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:50238000-50240600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:50238000-50240600	Weak transcription	Dnd41	blood

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