Variant report

Variant	rs17123516
Chromosome Location	chr12:49429280-49429281
allele	C/G
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	chr12:49427982-49429428	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:49429209-49429803	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:49426507-49429294	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49428806..49430677-chr12:49433294..49436045,2	MCF-7	breast:
2	chr1:202974892..202977780-chr12:49428939..49430788,2	K562	blood:
3	chr12:49418592..49421538-chr12:49427562..49429624,2	K562	blood:
4	chr12:49427723..49430687-chr12:49431294..49433126,2	MCF-7	breast:

Variant related genes	Relation type
KMT2D	TF binding region
ENSG00000167548	Chromatin interaction
ENSG00000163444	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57251277	0.85[AFR][1000 genomes]
rs7313188	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804862	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 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	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:49413400-49449000	Strong transcription	Fetal Intestine Small	intestine
3	chr12:49413800-49444000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:49413800-49449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:49414000-49429600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:49414200-49449000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:49414400-49443000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:49414400-49443600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:49414400-49448800	Strong transcription	Colonic Mucosa	Colon
10	chr12:49414400-49449000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49414400-49449000	Strong transcription	Brain Cingulate Gyrus	brain
12	chr12:49414400-49449000	Strong transcription	Brain Germinal Matrix	brain
13	chr12:49414400-49449200	Strong transcription	Fetal Stomach	stomach
14	chr12:49414400-49449200	Strong transcription	Fetal Thymus	thymus
15	chr12:49414400-49449200	Strong transcription	Thymus	Thymus
16	chr12:49414400-49449400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:49414400-49449400	Strong transcription	Fetal Intestine Large	intestine
18	chr12:49414400-49449800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:49414600-49429400	Strong transcription	Lung	lung
20	chr12:49414600-49429400	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr12:49414600-49429400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:49414600-49433000	Strong transcription	Placenta	Placenta
23	chr12:49414600-49439600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:49414600-49442600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:49414600-49443200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:49414600-49443200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr12:49414600-49448600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:49414600-49448600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:49414600-49448600	Strong transcription	Adipose Nuclei	Adipose
30	chr12:49414600-49448800	Strong transcription	Ovary	ovary
31	chr12:49414600-49449000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr12:49414600-49449000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:49414600-49449000	Strong transcription	Primary T cells from cord blood	blood
34	chr12:49414600-49449400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:49414600-49449600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:49414600-49449800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:49414800-49429400	Strong transcription	Left Ventricle	heart
38	chr12:49414800-49435400	Strong transcription	A549	lung
39	chr12:49414800-49447200	Strong transcription	Dnd41	blood
40	chr12:49414800-49448200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:49414800-49449200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:49414800-49449200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:49414800-49449400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:49414800-49449400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:49415000-49429400	Strong transcription	Gastric	stomach
46	chr12:49415000-49442800	Strong transcription	NHEK	skin
47	chr12:49415000-49449000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:49415000-49449000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:49415000-49449000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:49415200-49429400	Strong transcription	Rectal Smooth Muscle	rectum

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