Variant report

Variant	rs72918782
Chromosome Location	chr2:54785624-54785625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54785416..54786973-chr2:54949128..54950959,2	K562	blood:
2	chr2:54341806..54344770-chr2:54784235..54787039,2	MCF-7	breast:
3	chr2:54764431..54771229-chr2:54784220..54787609,7	MCF-7	breast:
4	chr2:54197301..54199396-chr2:54783418..54785695,2	MCF-7	breast:
5	chr2:54754602..54758699-chr2:54783105..54787010,4	MCF-7	breast:
6	chr2:54749132..54757147-chr2:54784492..54789269,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237887	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000214595	Chromatin interaction
ENSG00000228108	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs60410507	1.00[EUR][1000 genomes]
rs6705313	1.00[EUR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72906405	1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906421	1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911570	1.00[EUR][1000 genomes]
rs72911573	1.00[EUR][1000 genomes]
rs72913008	1.00[EUR][1000 genomes]
rs72913540	1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918739	1.00[AMR][1000 genomes]
rs72918780	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72918788	1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920550	1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]

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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54784000-54788200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54784200-54786200	Enhancers	Fetal Brain Male	brain
3	chr2:54784200-54788400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:54784400-54788400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:54784600-54785800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:54784600-54785800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr2:54784600-54785800	Active TSS	Rectal Smooth Muscle	rectum
8	chr2:54784600-54787800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:54784600-54787800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:54784600-54787800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:54784600-54787800	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr2:54784600-54788000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:54784600-54788200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:54784600-54788200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr2:54784600-54788400	Active TSS	Thymus	Thymus
16	chr2:54784600-54788600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:54784600-54788800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:54784800-54785800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:54784800-54785800	Active TSS	Brain Anterior Caudate	brain
20	chr2:54784800-54785800	Active TSS	Colon Smooth Muscle	Colon
21	chr2:54784800-54785800	Active TSS	Placenta	Placenta
22	chr2:54784800-54785800	Active TSS	Ovary	ovary
23	chr2:54784800-54786000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr2:54784800-54786000	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr2:54784800-54786000	Active TSS	A549	lung
26	chr2:54784800-54786200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:54784800-54786200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr2:54784800-54786400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:54784800-54786400	Active TSS	Aorta	Aorta
30	chr2:54784800-54786400	Flanking Active TSS	Left Ventricle	heart
31	chr2:54784800-54786600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr2:54784800-54786800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:54784800-54787000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:54784800-54787000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:54784800-54787600	Active TSS	Gastric	stomach
36	chr2:54784800-54787800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:54784800-54787800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr2:54784800-54787800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:54784800-54787800	Active TSS	Esophagus	oesophagus
40	chr2:54784800-54788000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr2:54784800-54788000	Active TSS	Liver	Liver
42	chr2:54784800-54788200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:54784800-54788200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:54784800-54788200	Active TSS	Lung	lung
45	chr2:54784800-54788400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:54784800-54788400	Active TSS	Fetal Intestine Small	intestine
47	chr2:54784800-54788400	Active TSS	Pancreas	Pancrea
48	chr2:54784800-54788600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr2:54784800-54789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:54784800-54789800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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