Variant report

Variant	rs74093853
Chromosome Location	chr12:51717309-51717310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51715545..51717672-chr12:51739386..51741358,2	K562	blood:
2	chr12:51662477..51664063-chr12:51717292..51718857,2	MCF-7	breast:
3	chr12:51661913..51666807-chr12:51714627..51721165,8	MCF-7	breast:
4	chr12:51714696..51717509-chr12:51745471..51747033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139610	Chromatin interaction
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12578771	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12580302	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581282	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17860277	0.88[EUR][1000 genomes]
rs17860287	0.92[EUR][1000 genomes]
rs17860296	0.90[EUR][1000 genomes]
rs17860302	0.90[EUR][1000 genomes]
rs17860346	0.94[EUR][1000 genomes]
rs17860364	0.93[EUR][1000 genomes]
rs17860365	0.92[EUR][1000 genomes]
rs17860378	0.93[EUR][1000 genomes]
rs17860380	0.94[EUR][1000 genomes]
rs17860382	0.94[EUR][1000 genomes]
rs17860387	0.94[EUR][1000 genomes]
rs3858637	0.86[EUR][1000 genomes]
rs55901988	0.89[EUR][1000 genomes]
rs57484374	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58213562	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58673573	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60641385	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60797544	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61172662	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61380773	0.92[EUR][1000 genomes]
rs61570206	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61605107	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138394	0.94[EUR][1000 genomes]
rs7308177	0.87[EUR][1000 genomes]
rs7311196	0.90[EUR][1000 genomes]
rs7312857	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7316221	0.87[EUR][1000 genomes]
rs7316301	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7316604	0.87[EUR][1000 genomes]
rs74093810	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74093814	0.87[EUR][1000 genomes]
rs74093823	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74093827	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7975715	0.87[EUR][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	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
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51711800-51721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:51712000-51717600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:51712400-51717400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:51712800-51720200	Weak transcription	HMEC	breast
5	chr12:51713200-51720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:51714200-51717800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:51714200-51718400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr12:51714200-51718600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:51714800-51718200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:51715000-51717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:51715000-51719000	Weak transcription	Stomach Mucosa	stomach
12	chr12:51715000-51720000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:51715000-51720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:51715000-51720000	Weak transcription	Hela-S3	cervix
15	chr12:51715000-51720000	Weak transcription	HSMM	muscle
16	chr12:51715000-51720200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:51715000-51720200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:51715000-51720200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:51715200-51717400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:51715200-51717600	Enhancers	K562	blood
21	chr12:51715200-51719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:51715200-51720000	Weak transcription	HSMMtube	muscle
23	chr12:51715200-51720200	Weak transcription	NHDF-Ad	bronchial
24	chr12:51715200-51720400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:51715200-51720600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:51715600-51718400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:51715600-51718400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:51715600-51720200	Weak transcription	A549	lung
29	chr12:51715600-51720800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:51715800-51718400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:51715800-51720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:51715800-51720400	Weak transcription	Fetal Lung	lung
33	chr12:51715800-51720400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:51715800-51720600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:51716000-51717600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:51716000-51717600	Flanking Active TSS	Fetal Thymus	thymus
37	chr12:51716000-51718000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr12:51716000-51718200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:51716000-51720600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:51716200-51718000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr12:51716200-51718200	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr12:51716200-51718200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:51716400-51718200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr12:51716400-51718200	Active TSS	Duodenum Mucosa	Duodenum
45	chr12:51716400-51718400	Flanking Active TSS	Dnd41	blood
46	chr12:51716600-51717600	Active TSS	Brain Anterior Caudate	brain
47	chr12:51716600-51717600	Active TSS	Brain Substantia Nigra	brain
48	chr12:51716600-51717800	Active TSS	Brain Hippocampus Middle	brain
49	chr12:51716600-51717800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr12:51716600-51717800	Active TSS	Rectal Mucosa Donor 31	rectum

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