Variant report

Variant	rs672632
Chromosome Location	chr12:121577951-121577952
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	chr12:121577786..121581315-chr12:121582515..121587821,6	K562	blood:

Variant related genes	Relation type
ENSG00000257053	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10735074	1.00[AMR][1000 genomes]
rs1169716	1.00[AMR][1000 genomes]
rs1169719	1.00[AMR][1000 genomes]
rs1169723	1.00[AMR][1000 genomes]
rs1169724	1.00[AMR][1000 genomes]
rs1169810	1.00[AMR][1000 genomes]
rs1180013	1.00[AMR][1000 genomes]
rs1180014	1.00[AMR][1000 genomes]
rs1180016	1.00[AMR][1000 genomes]
rs1186053	1.00[AMR][1000 genomes]
rs1630178	1.00[AMR][1000 genomes]
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	1.00[AMR][1000 genomes]
rs208281	1.00[AMR][1000 genomes]
rs208285	1.00[AMR][1000 genomes]
rs208286	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs208297	1.00[AMR][1000 genomes]
rs2116500	1.00[AMR][1000 genomes]
rs2116501	1.00[AMR][1000 genomes]
rs2393848	1.00[AMR][1000 genomes]
rs2567983	1.00[AMR][1000 genomes]
rs2567998	1.00[AMR][1000 genomes]
rs2568004	1.00[AMR][1000 genomes]
rs2668248	1.00[AMR][1000 genomes]
rs2686365	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2686366	1.00[AMR][1000 genomes]
rs2686381	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]
rs680700	1.00[AMR][1000 genomes]
rs682104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571400-121582800	Weak transcription	Lung	lung
2	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121571600-121579600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121571800-121581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:121571800-121582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
7	chr12:121572000-121582800	Weak transcription	Primary B cells from cord blood	blood
8	chr12:121572200-121582200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:121572200-121582400	Weak transcription	NHLF	lung
10	chr12:121572200-121583000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:121572600-121580000	Weak transcription	Ovary	ovary
13	chr12:121572600-121592600	Weak transcription	Liver	Liver
14	chr12:121572800-121579600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:121572800-121581400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:121572800-121581800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:121573400-121580000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:121575600-121579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:121576400-121578200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:121576400-121579600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:121576400-121579600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:121576400-121580800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121576400-121582400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:121576600-121581400	Weak transcription	K562	blood
26	chr12:121576600-121581800	Weak transcription	HepG2	liver
27	chr12:121576600-121592400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
29	chr12:121577200-121578200	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:121577200-121578200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:121577200-121580200	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:121577400-121579400	Weak transcription	Brain Anterior Caudate	brain
33	chr12:121577400-121579600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:121577400-121579600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:121577400-121582000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:121577600-121578200	Enhancers	Brain Hippocampus Middle	brain
37	chr12:121577600-121579400	Weak transcription	Brain Substantia Nigra	brain
38	chr12:121577600-121579800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:121577800-121578400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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