Variant report

Variant	rs74108762
Chromosome Location	chr12:75785862-75785863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:75783633-75786193	A549	lung:	n/a	n/a
2	SMC3	chr12:75784313-75785894	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75783435..75786287-chr12:76426934..76428474,2	MCF-7	breast:

Variant related genes	Relation type
CAPS2	TF binding region
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11366	1.00[AMR][1000 genomes]
rs55862053	1.00[AMR][1000 genomes]
rs56198554	1.00[AMR][1000 genomes]
rs56242432	1.00[AMR][1000 genomes]
rs57417036	1.00[AMR][1000 genomes]
rs57936468	1.00[AMR][1000 genomes]
rs60941260	1.00[AMR][1000 genomes]
rs7313298	1.00[AMR][1000 genomes]
rs74108714	1.00[AMR][1000 genomes]
rs74108721	1.00[AMR][1000 genomes]
rs74108729	1.00[AMR][1000 genomes]
rs74108751	1.00[AMR][1000 genomes]
rs74108752	1.00[AMR][1000 genomes]
rs74108753	1.00[AMR][1000 genomes]
rs74108755	1.00[AMR][1000 genomes]
rs74108756	1.00[AMR][1000 genomes]
rs74108760	1.00[AMR][1000 genomes]
rs74108761	1.00[AMR][1000 genomes]
rs74108767	1.00[AMR][1000 genomes]
rs74108768	1.00[AMR][1000 genomes]
rs74108773	1.00[AMR][1000 genomes]
rs74108775	1.00[AMR][1000 genomes]
rs74108779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108787	1.00[AMR][1000 genomes]
rs74108788	1.00[AMR][1000 genomes]
rs74108791	1.00[AMR][1000 genomes]
rs74108803	1.00[AMR][1000 genomes]
rs74108812	1.00[AMR][1000 genomes]
rs74108816	1.00[AMR][1000 genomes]
rs74108826	1.00[AMR][1000 genomes]
rs74108833	1.00[AMR][1000 genomes]
rs74108834	1.00[AMR][1000 genomes]
rs74108836	1.00[AMR][1000 genomes]
rs74108840	1.00[AMR][1000 genomes]
rs74108903	1.00[AMR][1000 genomes]
rs74109586	1.00[AMR][1000 genomes]
rs74109587	1.00[AMR][1000 genomes]
rs74109588	1.00[AMR][1000 genomes]
rs74109589	1.00[AMR][1000 genomes]
rs74109591	1.00[AMR][1000 genomes]
rs74109592	1.00[AMR][1000 genomes]
rs74109593	1.00[AMR][1000 genomes]
rs74109746	1.00[AMR][1000 genomes]
rs74109747	1.00[AMR][1000 genomes]
rs74109748	1.00[AMR][1000 genomes]
rs74110939	1.00[AMR][1000 genomes]
rs74110940	1.00[AMR][1000 genomes]
rs74110945	1.00[AMR][1000 genomes]
rs74110966	1.00[AMR][1000 genomes]
rs74110967	1.00[AMR][1000 genomes]
rs74111441	1.00[AMR][1000 genomes]
rs74111442	1.00[AMR][1000 genomes]
rs7954292	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3374621	chr12:75783234-75806310	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75782800-75786200	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:75784000-75786000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:75785000-75786400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:75785200-75786200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:75785200-75786200	Flanking Active TSS	Dnd41	blood
6	chr12:75785400-75786000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:75785400-75786400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:75785600-75786000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:75785600-75786000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:75785600-75786000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:75785600-75786000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:75785600-75786000	Enhancers	Hela-S3	cervix
13	chr12:75785600-75786000	Enhancers	HUVEC	blood vessel
14	chr12:75785600-75786200	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:75785600-75786200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:75785600-75786200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:75785600-75786200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:75785600-75786200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:75785600-75786200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:75785600-75786400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:75785600-75786400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:75785600-75791800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:75785600-75813800	Weak transcription	Ovary	ovary
24	chr12:75785800-75786000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:75785800-75786000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:75785800-75786000	Enhancers	Brain Angular Gyrus	brain
27	chr12:75785800-75786000	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:75785800-75786000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr12:75785800-75786000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:75785800-75786000	Enhancers	GM12878-XiMat	blood
31	chr12:75785800-75786200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:75785800-75786200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:75785800-75786200	Enhancers	Primary T cells from cord blood	blood
34	chr12:75785800-75786200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr12:75785800-75786200	Enhancers	Fetal Brain Female	brain
36	chr12:75785800-75786200	Enhancers	A549	lung
37	chr12:75785800-75786200	Enhancers	NHDF-Ad	bronchial
38	chr12:75785800-75786400	Enhancers	Brain Anterior Caudate	brain
39	chr12:75785800-75786600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:75785800-75790000	Weak transcription	Thymus	Thymus

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