Variant report

Variant	rs7306505
Chromosome Location	chr12:51686204-51686205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51662941..51665452-chr12:51684574..51687870,3	MCF-7	breast:
2	chr12:51440886..51443595-chr12:51684453..51687635,3	MCF-7	breast:
3	chr12:51663055..51664012-chr12:51685459..51686595,6	MCF-7	breast:
4	chr12:51686041..51688079-chr12:51689117..51691141,2	K562	blood:
5	chr12:51685363..51688079-chr12:51689486..51691141,2	K562	blood:
6	chr12:51662910..51665552-chr12:51685074..51687442,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1362963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965075	0.94[AFR][1000 genomes]
rs3210837	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3969069	0.86[AFR][1000 genomes]
rs4477479	0.86[AFR][1000 genomes]
rs4611251	0.86[AFR][1000 genomes]
rs4761981	0.80[EUR][1000 genomes]
rs4761982	0.86[AFR][1000 genomes]
rs4761985	0.82[AFR][1000 genomes]
rs4761994	0.85[AFR][1000 genomes]
rs4761995	0.80[EUR][1000 genomes]
rs4762011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580821	0.86[AFR][1000 genomes]
rs7135343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135736	0.86[AFR][1000 genomes]
rs7135840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954976	0.86[AFR][1000 genomes]
rs7957868	0.80[AFR][1000 genomes]
rs9795598	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51664600-51692800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:51673800-51697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:51674000-51698400	Strong transcription	Fetal Thymus	thymus
4	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:51674400-51698400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:51674400-51698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:51674400-51698800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:51676800-51691000	Weak transcription	Placenta	Placenta
11	chr12:51678000-51697600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:51678800-51693000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:51679800-51686800	Strong transcription	Thymus	Thymus
14	chr12:51680000-51687600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:51680600-51701600	Weak transcription	Small Intestine	intestine
16	chr12:51681200-51696600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:51681800-51688000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:51681800-51714200	Weak transcription	Gastric	stomach
19	chr12:51683600-51693000	Weak transcription	Spleen	Spleen
20	chr12:51684200-51690400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:51684800-51687000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:51685200-51686600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr12:51685200-51687000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:51685200-51689200	Weak transcription	Primary B cells from cord blood	blood
25	chr12:51685400-51687800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:51685600-51686600	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr12:51685600-51686600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:51685600-51688000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:51685800-51686800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:51685800-51686800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:51685800-51686800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:51685800-51697600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:51686000-51686400	Enhancers	GM12878-XiMat	blood
34	chr12:51686000-51686800	Genic enhancers	Primary T cells from cord blood	blood
35	chr12:51686200-51686800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:51686200-51687400	Weak transcription	K562	blood
37	chr12:51686200-51687800	Weak transcription	A549	lung
38	chr12:51686200-51687800	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:51686200-51702800	Weak transcription	Colonic Mucosa	Colon

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