Variant report

Variant	rs4141064
Chromosome Location	chr12:48363033-48363034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48362502..48365466-chr12:48366201..48368271,2	K562	blood:
2	chr12:48362584..48365917-chr12:48368904..48372045,3	K562	blood:
3	chr12:48360838..48363620-chr12:48364578..48367184,3	K562	blood:
4	chr12:48360987..48363483-chr12:48393695..48396604,4	MCF-7	breast:
5	chr12:48356037..48360072-chr12:48360475..48364952,9	K562	blood:

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction
ENSG00000134291	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11609253	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12579948	0.82[JPT][hapmap]
rs2286024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv519174	chr12:48359984-48365265	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358200-48363200	Weak transcription	Brain Substantia Nigra	brain
2	chr12:48358200-48364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:48358200-48366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48358200-48366200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:48358400-48364600	Weak transcription	Ovary	ovary
6	chr12:48358400-48365000	Weak transcription	Osteobl	bone
7	chr12:48358400-48365200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:48358400-48366400	Weak transcription	Fetal Brain Male	brain
9	chr12:48358400-48367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:48358400-48367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:48358400-48369800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:48358400-48373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:48358600-48363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:48358600-48363400	Strong transcription	Fetal Thymus	thymus
15	chr12:48358600-48363600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:48358600-48363800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:48358600-48365200	Weak transcription	HSMMtube	muscle
18	chr12:48358600-48366600	Weak transcription	Fetal Lung	lung
19	chr12:48358600-48369400	Weak transcription	Fetal Kidney	kidney
20	chr12:48358600-48381400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:48358800-48366000	Weak transcription	HepG2	liver
22	chr12:48358800-48366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:48359000-48364000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:48359200-48363200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:48359200-48363400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:48359200-48364000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:48359200-48364400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr12:48359200-48364600	Strong transcription	Placenta	Placenta
29	chr12:48359200-48364800	Strong transcription	Primary T cells from cord blood	blood
30	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:48359400-48363200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:48359400-48363400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:48359600-48363200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr12:48359600-48363200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:48359600-48363400	Genic enhancers	Fetal Muscle Leg	muscle
36	chr12:48359600-48363600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:48359600-48363800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:48359600-48366600	Strong transcription	Thymus	Thymus
39	chr12:48359800-48363200	Strong transcription	Fetal Stomach	stomach
40	chr12:48359800-48363400	Strong transcription	Gastric	stomach
41	chr12:48359800-48363400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:48359800-48364400	Weak transcription	HSMM	muscle
43	chr12:48360000-48363400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:48360000-48363400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:48360000-48364600	Weak transcription	Right Ventricle	heart
46	chr12:48360000-48366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:48360000-48368200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:48360200-48363400	Strong transcription	Fetal Intestine Large	intestine
49	chr12:48360200-48363400	Strong transcription	Dnd41	blood
50	chr12:48360200-48369600	Weak transcription	Brain Cingulate Gyrus	brain

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