Variant report

Variant	rs839356
Chromosome Location	chr12:123251637-123251638
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123237222..123239251-chr12:123250581..123253691,3	MCF-7	breast:
2	chr12:123236013..123238671-chr12:123251016..123252979,2	K562	blood:
3	chr12:123238831..123241480-chr12:123248659..123252365,6	K562	blood:
4	chr12:123248578..123250218-chr12:123250623..123252365,2	K562	blood:

Variant related genes	Relation type
ENSG00000139726	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10847742	0.81[EUR][1000 genomes]
rs10847749	0.81[EUR][1000 genomes]
rs10847751	0.81[EUR][1000 genomes]
rs11059729	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1260121	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696355	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798563	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975761	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649894	0.87[ASN][1000 genomes]
rs2649895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649896	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649900	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649914	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844369	0.81[EUR][1000 genomes]
rs3852535	0.81[EUR][1000 genomes]
rs4038080	0.81[EUR][1000 genomes]
rs4038081	0.81[EUR][1000 genomes]
rs4307760	0.81[EUR][1000 genomes]
rs548349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489241	0.81[EUR][1000 genomes]
rs651683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839352	0.83[AMR][1000 genomes]
rs839354	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839355	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839357	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs839362	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs967281	0.81[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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:123238600-123255600	Strong transcription	Fetal Intestine Large	intestine
3	chr12:123238600-123255800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:123238800-123255600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr12:123238800-123255600	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:123238800-123255800	Strong transcription	Primary B cells from cord blood	blood
8	chr12:123238800-123255800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:123238800-123255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:123238800-123255800	Strong transcription	Liver	Liver
11	chr12:123238800-123256000	Strong transcription	NH-A	brain
12	chr12:123238800-123256200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:123238800-123256200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:123238800-123256200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:123238800-123256200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:123238800-123256600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:123238800-123257400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:123238800-123257400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:123238800-123257600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:123238800-123257800	Strong transcription	Fetal Thymus	thymus
21	chr12:123238800-123257800	Strong transcription	Osteobl	bone
22	chr12:123238800-123258000	Strong transcription	Placenta	Placenta
23	chr12:123239000-123252600	Strong transcription	NHDF-Ad	bronchial
24	chr12:123239000-123255200	Strong transcription	Brain Hippocampus Middle	brain
25	chr12:123239000-123255600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr12:123239000-123255600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr12:123239000-123255600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:123239000-123256600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:123239000-123257400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:123239000-123257600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:123239200-123253000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr12:123239200-123253600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr12:123239200-123255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:123239200-123255800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr12:123239200-123255800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:123239200-123257000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:123239200-123257400	Strong transcription	A549	lung
38	chr12:123239200-123257800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:123239400-123256800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:123239400-123257800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:123239400-123258000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:123239600-123258600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:123239800-123256200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:123239800-123257800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:123240400-123253600	Strong transcription	NHEK	skin
46	chr12:123240400-123257800	Strong transcription	Fetal Brain Female	brain
47	chr12:123240800-123253600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr12:123241400-123257600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:123241800-123253400	Strong transcription	Brain Germinal Matrix	brain
50	chr12:123241800-123254000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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