Variant report

Variant	rs35000511
Chromosome Location	chr12:48359676-48359677
allele	G/T
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	POLR2A	chr12:48359666-48359698	HepG2	liver:	n/a	n/a
2	CTCF	chr12:48359660-48359810	HFF-Myc	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48296295..48301288-chr12:48356017..48360451,6	MCF-7	breast:

Variant related genes	Relation type
TMEM106C	TF binding region
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11168331	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11503871	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11503873	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12313208	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12721425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12721426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12721427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408878	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41263861	0.82[EUR][1000 genomes]
rs41272749	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs41272777	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55698101	1.00[AFR][1000 genomes]
rs55967487	0.82[EUR][1000 genomes]
rs56196515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387272	0.84[EUR][1000 genomes]
rs7135926	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73297161	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48358200-48359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48358200-48359800	Enhancers	Right Atrium	heart
3	chr12:48358200-48359800	Enhancers	Spleen	Spleen
4	chr12:48358200-48360200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:48358200-48360800	Weak transcription	Aorta	Aorta
6	chr12:48358200-48363200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:48358200-48364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:48358200-48366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48358200-48366200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:48358400-48359800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:48358400-48359800	Weak transcription	Fetal Stomach	stomach
12	chr12:48358400-48360200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:48358400-48360600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:48358400-48360800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:48358400-48360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:48358400-48361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:48358400-48361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:48358400-48361000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:48358400-48361000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:48358400-48361000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:48358400-48361000	Weak transcription	Liver	Liver
22	chr12:48358400-48361000	Weak transcription	Lung	lung
23	chr12:48358400-48361400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:48358400-48362000	Weak transcription	Esophagus	oesophagus
25	chr12:48358400-48362400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:48358400-48362400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:48358400-48362400	Weak transcription	Psoas Muscle	Psoas
28	chr12:48358400-48362800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:48358400-48362800	Weak transcription	NH-A	brain
30	chr12:48358400-48364600	Weak transcription	Ovary	ovary
31	chr12:48358400-48365000	Weak transcription	Osteobl	bone
32	chr12:48358400-48365200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:48358400-48366400	Weak transcription	Fetal Brain Male	brain
34	chr12:48358400-48367800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:48358400-48367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:48358400-48369800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:48358400-48373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:48358600-48360000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:48358600-48360000	Strong transcription	Rectal Smooth Muscle	rectum
40	chr12:48358600-48360000	Weak transcription	NHDF-Ad	bronchial
41	chr12:48358600-48360200	Weak transcription	Fetal Brain Female	brain
42	chr12:48358600-48360200	Genic enhancers	Fetal Intestine Large	intestine
43	chr12:48358600-48360800	Weak transcription	Adipose Nuclei	Adipose
44	chr12:48358600-48360800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:48358600-48360800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:48358600-48361000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:48358600-48361000	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:48358600-48363000	Strong transcription	A549	lung
49	chr12:48358600-48363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:48358600-48363400	Strong transcription	Fetal Thymus	thymus

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