Variant report

Variant	rs12903919
Chromosome Location	chr15:52553453-52553454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:52553245-52554572	GM12878	blood:	n/a	n/a
2	SMARCB1	chr15:52553211-52554292	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:52553338-52554291	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:52552933-52555124	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:52553445-52553554	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:52553412-52553506	ProgFib	skin:	n/a	n/a
7	POLR2A	chr15:52553245-52555031	GM12892	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52552685..52555324-chr15:52573608..52576301,2	MCF-7	breast:
2	chr15:52541572..52560373-chr15:52569752..52591000,64	MCF-7	breast:
3	chr15:52551438..52553868-chr15:52559425..52562079,2	K562	blood:
4	chr15:52545028..52546786-chr15:52553340..52555593,3	MCF-7	breast:
5	chr15:52536643..52538953-chr15:52552429..52555454,3	MCF-7	breast:
6	chr15:52539435..52542328-chr15:52552750..52555467,4	MCF-7	breast:
7	chr15:52536664..52559220-chr15:52576974..52590204,72	MCF-7	breast:
8	chr15:52553415..52555370-chr15:52556618..52558914,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYO5C	TF binding region
ENSG00000128833	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12396	1.00[JPT][hapmap]
rs4776028	1.00[CHB][hapmap]

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	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
2	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
3	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52524400-52579400	Weak transcription	Small Intestine	intestine
2	chr15:52525800-52554000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:52536200-52553600	Weak transcription	Lung	lung
4	chr15:52536200-52553800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:52538000-52554600	Weak transcription	Colonic Mucosa	Colon
6	chr15:52540000-52553800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:52542400-52553800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:52543600-52555400	Weak transcription	Liver	Liver
9	chr15:52546800-52553600	Weak transcription	Spleen	Spleen
10	chr15:52546800-52553800	Weak transcription	Esophagus	oesophagus
11	chr15:52547000-52555800	Weak transcription	Fetal Intestine Large	intestine
12	chr15:52547600-52553800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:52549000-52553800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:52549000-52557800	Weak transcription	Fetal Brain Male	brain
15	chr15:52549200-52553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:52549200-52553600	Weak transcription	Stomach Mucosa	stomach
17	chr15:52549200-52553600	Weak transcription	HUVEC	blood vessel
18	chr15:52549200-52553800	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:52549200-52554000	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:52549400-52554000	Weak transcription	Fetal Lung	lung
21	chr15:52549400-52567200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:52549600-52553600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:52549600-52553600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:52549600-52553600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:52549600-52553600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:52549600-52553600	Weak transcription	Dnd41	blood
27	chr15:52549600-52553800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:52549600-52553800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr15:52549600-52557400	Weak transcription	Thymus	Thymus
30	chr15:52549800-52553800	Weak transcription	Primary T cells from cord blood	blood
31	chr15:52549800-52554200	Weak transcription	A549	lung
32	chr15:52550000-52553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:52550000-52553600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:52550000-52553600	Strong transcription	Fetal Stomach	stomach
35	chr15:52550000-52553600	Weak transcription	Right Atrium	heart
36	chr15:52550000-52553800	Weak transcription	Brain Substantia Nigra	brain
37	chr15:52550000-52554000	Weak transcription	HSMM	muscle
38	chr15:52550000-52579200	Weak transcription	Fetal Kidney	kidney
39	chr15:52550200-52553600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:52550200-52553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:52550200-52553800	Weak transcription	Left Ventricle	heart
42	chr15:52550200-52554000	Weak transcription	NHLF	lung
43	chr15:52550200-52554600	Weak transcription	Right Ventricle	heart
44	chr15:52550200-52572200	Strong transcription	HepG2	liver
45	chr15:52550400-52553600	Weak transcription	Fetal Heart	heart
46	chr15:52550400-52553600	Weak transcription	HSMMtube	muscle
47	chr15:52550400-52553600	Weak transcription	NH-A	brain
48	chr15:52550400-52553800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:52550400-52554000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr15:52550600-52553800	Weak transcription	NHDF-Ad	bronchial

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