Variant report

Variant	rs2686365
Chromosome Location	chr12:121633783-121633784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121631393..121634582-chr12:121643500..121647311,3	K562	blood:
2	chr12:121623572..121625455-chr12:121632945..121635628,2	MCF-7	breast:
3	chr12:121612601..121615211-chr12:121633232..121635825,2	MCF-7	breast:
4	chr12:121628300..121629951-chr12:121633351..121634928,2	K562	blood:
5	chr12:121633082..121636279-chr12:121645811..121648616,3	K562	blood:
6	chr12:121633584..121637006-chr12:121640952..121642705,3	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction
ENSG00000261827	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10735074	1.00[AMR][1000 genomes]
rs1169716	1.00[AMR][1000 genomes]
rs1169719	1.00[AMR][1000 genomes]
rs1169722	0.88[YRI][hapmap]
rs1169723	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1169724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1169810	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1180013	1.00[AMR][1000 genomes]
rs1180014	1.00[AMR][1000 genomes]
rs1180016	1.00[AMR][1000 genomes]
rs1180052	0.85[YRI][hapmap]
rs1186053	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630178	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1647255	1.00[AMR][1000 genomes]
rs1653586	0.88[YRI][hapmap]
rs1653593	0.85[YRI][hapmap]
rs1653599	1.00[AMR][1000 genomes]
rs1653600	1.00[AMR][1000 genomes]
rs1653615	1.00[AMR][1000 genomes]
rs1718110	1.00[AMR][1000 genomes]
rs1718157	1.00[AMR][1000 genomes]
rs1794891	1.00[AMR][1000 genomes]
rs1794903	1.00[AMR][1000 genomes]
rs1796418	1.00[AMR][1000 genomes]
rs1975123	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs208281	1.00[AMR][1000 genomes]
rs208285	1.00[AMR][1000 genomes]
rs208286	1.00[AMR][1000 genomes]
rs208297	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs2116500	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2116501	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2393848	1.00[AMR][1000 genomes]
rs2567983	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2567998	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs2568004	1.00[AMR][1000 genomes]
rs2668248	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686366	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686381	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs2686383	1.00[AMR][1000 genomes]
rs2708094	1.00[AMR][1000 genomes]
rs2948125	1.00[AMR][1000 genomes]
rs3861796	1.00[AMR][1000 genomes]
rs512239	1.00[AMR][1000 genomes]
rs566496	1.00[AMR][1000 genomes]
rs584133	1.00[AMR][1000 genomes]
rs657647	1.00[AMR][1000 genomes]
rs672632	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs680700	1.00[AMR][1000 genomes]
rs682104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
5	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:121620400-121634200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:121622800-121634200	Weak transcription	Placenta	Placenta
8	chr12:121622800-121634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:121623600-121634200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:121623600-121634200	Weak transcription	Liver	Liver
11	chr12:121623600-121634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:121625600-121634400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:121628000-121647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:121628800-121634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:121628800-121634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:121628800-121634400	Weak transcription	K562	blood
19	chr12:121629400-121634200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:121629600-121633800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:121629600-121634400	Weak transcription	Right Atrium	heart
22	chr12:121630000-121634200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:121630400-121634200	Weak transcription	Spleen	Spleen
24	chr12:121630400-121640400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:121630400-121640800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:121630400-121647200	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:121631600-121634200	Weak transcription	HUVEC	blood vessel

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