Variant report

Variant	rs72954688
Chromosome Location	chr3:113675875-113675876
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	chr3:113665870..113669874-chr3:113673727..113678562,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273394	Chromatin interaction
ENSG00000184307	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10804511	1.00[AMR][1000 genomes]
rs2566981	1.00[AMR][1000 genomes]
rs2566984	1.00[AMR][1000 genomes]
rs2566985	1.00[AMR][1000 genomes]
rs4359785	1.00[AMR][1000 genomes]
rs59292926	1.00[AMR][1000 genomes]
rs60238096	1.00[AMR][1000 genomes]
rs6781200	1.00[AMR][1000 genomes]
rs6799923	1.00[AMR][1000 genomes]
rs6800121	1.00[AMR][1000 genomes]
rs72952678	1.00[AMR][1000 genomes]
rs72952679	1.00[AMR][1000 genomes]
rs72952680	1.00[AMR][1000 genomes]
rs72952687	1.00[AMR][1000 genomes]
rs72954664	1.00[AMR][1000 genomes]
rs72954670	1.00[AMR][1000 genomes]
rs72954674	1.00[AMR][1000 genomes]
rs72954676	1.00[AMR][1000 genomes]
rs72954680	1.00[AMR][1000 genomes]
rs7628645	1.00[AMR][1000 genomes]
rs7646432	1.00[AMR][1000 genomes]
rs7650388	1.00[AMR][1000 genomes]
rs7650416	1.00[AMR][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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113667600-113695800	Weak transcription	Left Ventricle	heart
2	chr3:113667800-113679600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:113667800-113683000	Weak transcription	Small Intestine	intestine
4	chr3:113667800-113683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:113667800-113685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:113667800-113685200	Weak transcription	A549	lung
7	chr3:113667800-113696800	Weak transcription	Right Ventricle	heart
8	chr3:113667800-113710800	Weak transcription	Esophagus	oesophagus
9	chr3:113668000-113680000	Weak transcription	Hela-S3	cervix
10	chr3:113668000-113687800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:113668000-113692000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:113668000-113699000	Weak transcription	Stomach Mucosa	stomach
13	chr3:113668200-113676000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:113668200-113676200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:113668200-113696200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:113668400-113676200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:113668400-113676200	Weak transcription	Fetal Intestine Large	intestine
18	chr3:113668400-113676600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:113668400-113724200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:113669600-113679600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr3:113670200-113681400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:113670600-113681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:113671600-113680000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr3:113672000-113685600	Strong transcription	Primary B cells from cord blood	blood
25	chr3:113672200-113679800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:113672400-113698000	Weak transcription	Ovary	ovary
27	chr3:113673000-113679000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:113673000-113700800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:113673200-113676000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:113673200-113676000	Weak transcription	Pancreas	Pancrea
31	chr3:113673200-113676200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:113673200-113676800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:113673200-113682000	Weak transcription	Dnd41	blood
34	chr3:113673200-113683400	Weak transcription	Fetal Thymus	thymus
35	chr3:113673200-113683400	Weak transcription	Lung	lung
36	chr3:113673200-113685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:113673200-113688600	Weak transcription	Spleen	Spleen
38	chr3:113673400-113677200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:113673400-113679000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:113673400-113683000	Weak transcription	Primary T cells from cord blood	blood
41	chr3:113673400-113687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:113673400-113696400	Weak transcription	Brain Angular Gyrus	brain
43	chr3:113673400-113704400	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:113673400-113761000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:113674000-113743800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:113674200-113676800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:113674200-113678000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:113674200-113685800	Weak transcription	Brain Anterior Caudate	brain
49	chr3:113674400-113676600	Weak transcription	Colonic Mucosa	Colon
50	chr3:113674400-113677200	Weak transcription	Aorta	Aorta

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