Variant report

Variant	rs72954683
Chromosome Location	chr3:113672879-113672880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113665397..113668395-chr3:113672531..113675504,3	MCF-7	breast:
2	chr3:113668482..113670077-chr3:113672552..113674418,3	MCF-7	breast:
3	chr3:113666347..113669503-chr3:113669854..113673579,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184307	Chromatin interaction
ENSG00000273394	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs72944670	1.00[AMR][1000 genomes]
rs72944693	1.00[AMR][1000 genomes]
rs72954607	1.00[AMR][1000 genomes]
rs72954609	1.00[AMR][1000 genomes]
rs72954678	1.00[AMR][1000 genomes]
rs7637768	1.00[AMR][1000 genomes]
rs9917839	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:77 , 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	chr3:113668200-113673000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:113668200-113676000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:113668200-113676200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:113668200-113696200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:113668400-113675400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:113668400-113675600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:113668400-113676200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:113668400-113676200	Weak transcription	Fetal Intestine Large	intestine
21	chr3:113668400-113676600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:113668400-113724200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:113669400-113675200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:113669600-113679600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr3:113670200-113681400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:113670600-113681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:113671000-113674000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:113671400-113674200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr3:113671600-113680000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr3:113671800-113673200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:113671800-113673200	Strong transcription	Pancreas	Pancrea
32	chr3:113672000-113685600	Strong transcription	Primary B cells from cord blood	blood
33	chr3:113672200-113673600	Enhancers	HUVEC	blood vessel
34	chr3:113672200-113674200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:113672200-113679800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:113672400-113673000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:113672400-113673000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr3:113672400-113673200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:113672400-113673200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:113672400-113673400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:113672400-113673800	Enhancers	Primary hematopoietic stem cells	blood
42	chr3:113672400-113674000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr3:113672400-113698000	Weak transcription	Ovary	ovary
44	chr3:113672600-113673000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr3:113672600-113673000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr3:113672600-113673000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:113672600-113673000	Enhancers	Brain Angular Gyrus	brain
48	chr3:113672600-113673000	Enhancers	Thymus	Thymus
49	chr3:113672600-113673000	Enhancers	NH-A	brain
50	chr3:113672600-113673200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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