Variant report

Variant	rs12815624
Chromosome Location	chr12:65144484-65144485
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65143611..65146535-chr12:65146551..65148311,2	K562	blood:
2	chr12:65139363..65142311-chr12:65143603..65146653,3	MCF-7	breast:
3	chr12:65142421..65145111-chr12:65146811..65149410,2	K562	blood:

Variant related genes	Relation type
ENSG00000135677	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17100632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100642	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60648839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099668	0.99[AFR][1000 genomes];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	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65106400-65152600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:65111600-65146800	Strong transcription	Fetal Intestine Large	intestine
3	chr12:65125200-65152400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:65126800-65147800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr12:65127200-65146000	Strong transcription	Stomach Smooth Muscle	stomach
6	chr12:65127200-65146800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:65127200-65147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:65127200-65149000	Strong transcription	Primary T cells from cord blood	blood
9	chr12:65127400-65145400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:65127400-65148400	Strong transcription	Dnd41	blood
11	chr12:65128000-65145600	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:65128400-65144800	Strong transcription	Fetal Brain Female	brain
13	chr12:65128400-65146800	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:65129000-65145600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:65129600-65149200	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:65129800-65152400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:65132200-65147000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:65132800-65152200	Weak transcription	Colonic Mucosa	Colon
19	chr12:65133400-65144600	Strong transcription	Ovary	ovary
20	chr12:65133800-65150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:65134600-65146600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:65134800-65147200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:65135000-65146800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:65135800-65146400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:65136200-65146000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:65136400-65152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:65136600-65149000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:65137000-65146400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:65137000-65146800	Weak transcription	Gastric	stomach
30	chr12:65137000-65152400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:65137200-65152600	Weak transcription	Esophagus	oesophagus
32	chr12:65137800-65147000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:65138200-65152000	Weak transcription	Psoas Muscle	Psoas
34	chr12:65138400-65146800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:65138600-65152400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:65139000-65145800	Weak transcription	Fetal Heart	heart
37	chr12:65139000-65151600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:65139200-65146600	Weak transcription	Aorta	Aorta
39	chr12:65139600-65146400	Weak transcription	Stomach Mucosa	stomach
40	chr12:65139600-65151600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:65140200-65151200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:65140200-65151600	Weak transcription	K562	blood
43	chr12:65140200-65152200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:65140600-65144600	Strong transcription	Fetal Lung	lung
45	chr12:65140600-65144600	Strong transcription	HSMMtube	muscle
46	chr12:65140600-65145600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:65140600-65147000	Strong transcription	Brain Germinal Matrix	brain
48	chr12:65141000-65145000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:65141000-65145400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:65141200-65145400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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