Variant report

Variant	rs12812333
Chromosome Location	chr12:65071620-65071621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65001203..65007582-chr12:65070748..65075652,10	MCF-7	breast:
2	chr12:65001640..65007196-chr12:65068991..65073992,9	MCF-7	breast:
3	chr12:65065436..65068310-chr12:65070713..65073194,2	K562	blood:
4	chr12:65065240..65066936-chr12:65070713..65072619,2	K562	blood:

Variant related genes	Relation type
ENSG00000153179	Chromatin interaction
ENSG00000256670	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12815802	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12820666	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12828259	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35011112	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35127263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35846274	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964087	0.93[ASN][1000 genomes]
rs55668439	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56136505	0.86[EUR][1000 genomes]
rs56206108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931658	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67264294	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788201	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65060000-65073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:65063600-65073400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:65064000-65073400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:65064000-65073400	Weak transcription	Fetal Brain Male	brain
5	chr12:65064000-65076000	Enhancers	Fetal Thymus	thymus
6	chr12:65064000-65078200	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:65065600-65072200	Enhancers	Thymus	Thymus
8	chr12:65066000-65078600	Enhancers	Spleen	Spleen
9	chr12:65066800-65073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:65066800-65073600	Weak transcription	Esophagus	oesophagus
11	chr12:65067000-65073200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:65067000-65073200	Weak transcription	HSMM	muscle
13	chr12:65067000-65075000	Weak transcription	Ovary	ovary
14	chr12:65067200-65073600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:65067400-65073800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:65067400-65076800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:65067800-65073200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:65067800-65073400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:65068000-65071800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:65068000-65073400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:65068000-65074800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:65068000-65075800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:65068000-65076800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:65068200-65071800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:65068400-65071800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:65068400-65087200	Weak transcription	Liver	Liver
27	chr12:65068600-65071800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:65068600-65073200	Weak transcription	Fetal Lung	lung
29	chr12:65068600-65074800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:65068600-65075200	Weak transcription	Gastric	stomach
31	chr12:65068600-65076600	Weak transcription	Fetal Kidney	kidney
32	chr12:65068600-65076800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:65068600-65078000	Weak transcription	Dnd41	blood
34	chr12:65068600-65079400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:65068800-65073200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:65069200-65073200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:65069400-65077000	Weak transcription	Psoas Muscle	Psoas
38	chr12:65069600-65073200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:65069600-65073400	Weak transcription	Fetal Stomach	stomach
40	chr12:65069600-65073600	Weak transcription	Pancreas	Pancrea
41	chr12:65069600-65073800	Weak transcription	Small Intestine	intestine
42	chr12:65069800-65071800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:65069800-65072000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:65069800-65072200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:65069800-65072200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:65069800-65072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:65069800-65073000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:65069800-65073200	Weak transcription	Fetal Intestine Small	intestine
49	chr12:65069800-65073400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:65069800-65073400	Weak transcription	Right Ventricle	heart

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