Variant report

Variant	rs60131226
Chromosome Location	chr15:52496514-52496515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52490583..52493341-chr15:52495690..52497314,2	MCF-7	breast:
2	chr15:52477453..52480086-chr15:52495513..52498158,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58197974	0.91[AFR][1000 genomes]
rs74015627	0.89[AFR][1000 genomes]
rs74015628	0.83[AFR][1000 genomes]
rs74015630	0.98[AFR][1000 genomes]
rs74015631	0.98[AFR][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	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv904220	chr15:52485024-52526507	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52473200-52513600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:52473400-52496600	Weak transcription	Spleen	Spleen
3	chr15:52473600-52512400	Weak transcription	Primary B cells from cord blood	blood
4	chr15:52475800-52505600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:52477600-52497000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr15:52477600-52497200	Weak transcription	Stomach Mucosa	stomach
7	chr15:52479800-52532800	Weak transcription	Brain Angular Gyrus	brain
8	chr15:52481600-52496600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:52483800-52497000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:52484200-52497000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:52484200-52498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:52484200-52503200	Weak transcription	Lung	lung
13	chr15:52484400-52503800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:52486000-52505800	Weak transcription	Psoas Muscle	Psoas
15	chr15:52486600-52496600	Weak transcription	Adipose Nuclei	Adipose
16	chr15:52487400-52496800	Weak transcription	Left Ventricle	heart
17	chr15:52487400-52505200	Weak transcription	Thymus	Thymus
18	chr15:52488600-52497000	Weak transcription	Aorta	Aorta
19	chr15:52488600-52509800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:52488800-52505600	Weak transcription	Fetal Kidney	kidney
21	chr15:52489200-52496800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:52489200-52520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:52489200-52523800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:52490400-52503000	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:52494600-52499200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:52495400-52497800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr15:52495400-52500600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:52495600-52519000	Strong transcription	HepG2	liver
29	chr15:52495800-52498600	Weak transcription	Right Atrium	heart
30	chr15:52495800-52499200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr15:52496000-52497400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:52496000-52497600	Strong transcription	Colonic Mucosa	Colon
33	chr15:52496000-52497600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr15:52496000-52497800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:52496000-52498000	Strong transcription	Gastric	stomach
36	chr15:52496000-52498200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr15:52496000-52498400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:52496000-52498400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:52496000-52498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:52496000-52499000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:52496000-52500800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:52496000-52505000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:52496200-52497400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:52496200-52497400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:52496200-52497400	Strong transcription	A549	lung
46	chr15:52496200-52497600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr15:52496200-52497600	Strong transcription	Liver	Liver
48	chr15:52496200-52497600	Strong transcription	Fetal Intestine Large	intestine
49	chr15:52496200-52497600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr15:52496200-52497600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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