Variant report

Variant	rs72954680
Chromosome Location	chr3:113671955-113671956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113670351..113672163-chr3:113674135..113676745,2	MCF-7	breast:
2	chr3:113666347..113669503-chr3:113669854..113673579,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273394	Chromatin interaction
ENSG00000184307	Chromatin interaction

Extended variants
information (count: 25 )
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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781200	1.00[AMR][1000 genomes]
rs6799923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6800121	0.92[AFR][1000 genomes];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954676	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954688	1.00[AMR][1000 genomes]
rs7628645	1.00[AMR][1000 genomes]
rs7646432	1.00[AMR][1000 genomes]
rs7650388	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7650416	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv1834273	chr3:113666511-113673125	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113667600-113695800	Weak transcription	Left Ventricle	heart
2	chr3:113667800-113672400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:113667800-113672400	Weak transcription	HMEC	breast
4	chr3:113667800-113672600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:113667800-113672600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:113667800-113672600	Weak transcription	Aorta	Aorta
7	chr3:113667800-113672600	Weak transcription	Lung	lung
8	chr3:113667800-113672600	Weak transcription	Thymus	Thymus
9	chr3:113667800-113672600	Weak transcription	Spleen	Spleen
10	chr3:113667800-113679600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:113667800-113683000	Weak transcription	Small Intestine	intestine
12	chr3:113667800-113683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:113667800-113685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:113667800-113685200	Weak transcription	A549	lung
15	chr3:113667800-113696800	Weak transcription	Right Ventricle	heart
16	chr3:113667800-113710800	Weak transcription	Esophagus	oesophagus
17	chr3:113668000-113672200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:113668000-113672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:113668000-113672400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr3:113668000-113672600	Weak transcription	Colonic Mucosa	Colon
21	chr3:113668000-113672600	Weak transcription	Gastric	stomach
22	chr3:113668000-113680000	Weak transcription	Hela-S3	cervix
23	chr3:113668000-113687800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:113668000-113692000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:113668000-113699000	Weak transcription	Stomach Mucosa	stomach
26	chr3:113668200-113672400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:113668200-113672600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr3:113668200-113672600	Weak transcription	Dnd41	blood
29	chr3:113668200-113673000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:113668200-113676000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:113668200-113676200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:113668200-113696200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:113668400-113672400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:113668400-113672400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:113668400-113672400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:113668400-113672600	Weak transcription	Brain Angular Gyrus	brain
37	chr3:113668400-113675400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:113668400-113675600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:113668400-113676200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:113668400-113676200	Weak transcription	Fetal Intestine Large	intestine
41	chr3:113668400-113676600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:113668400-113724200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:113668600-113672600	Weak transcription	Liver	Liver
44	chr3:113669000-113672600	Weak transcription	Brain Anterior Caudate	brain
45	chr3:113669000-113672800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:113669400-113675200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:113669600-113679600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:113670200-113681400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:113670600-113672600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:113670600-113681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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