Variant report

Variant	rs7316688
Chromosome Location	chr12:50240341-50240342
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50134026..50138215-chr12:50236682..50241219,8	K562	blood:
2	chr12:50234719..50238725-chr12:50239270..50244656,10	MCF-7	breast:
3	chr12:50235324..50238742-chr12:50239351..50243802,4	MCF-7	breast:
4	chr12:50237689..50241019-chr12:50242917..50244785,3	K562	blood:

Variant related genes	Relation type
ENSG00000186666	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10875980	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10875982	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11169176	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169182	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7299134	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7302855	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7303074	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7305229	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7316671	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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:22 , 50 per page) page: 1

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

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