Variant report

Variant	rs72918788
Chromosome Location	chr2:54797205-54797206
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54782556..54791633-chr2:54796824..54803982,19	MCF-7	breast:
2	chr2:54796760..54799671-chr2:54800450..54802770,2	K562	blood:
3	chr2:54795805..54798083-chr2:54801150..54802782,2	MCF-7	breast:
4	chr2:54749225..54752072-chr2:54796311..54798001,2	K562	blood:
5	chr2:54783962..54788714-chr2:54796833..54801765,9	K562	blood:
6	chr2:54796611..54799496-chr2:54810522..54814074,3	MCF-7	breast:
7	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6751570	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906405	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906407	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	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[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72918782	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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	1.00[EUR][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	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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54788400-54797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:54789800-54801400	Enhancers	Liver	Liver
3	chr2:54791200-54801200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:54793000-54799800	Enhancers	Stomach Mucosa	stomach
5	chr2:54794400-54804200	Weak transcription	Ovary	ovary
6	chr2:54795000-54797600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:54795000-54799400	Enhancers	Fetal Heart	heart
8	chr2:54795200-54799000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:54795200-54799800	Enhancers	Fetal Intestine Large	intestine
10	chr2:54795200-54802200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:54795400-54799200	Enhancers	HUVEC	blood vessel
12	chr2:54795400-54801400	Enhancers	Fetal Thymus	thymus
13	chr2:54795600-54799400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr2:54795600-54802400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:54795800-54797400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:54795800-54797400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:54795800-54797800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:54795800-54798400	Enhancers	NH-A	brain
19	chr2:54795800-54798800	Enhancers	Right Ventricle	heart
20	chr2:54795800-54799200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:54795800-54799400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:54795800-54799400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr2:54795800-54799400	Flanking Active TSS	A549	lung
24	chr2:54795800-54800000	Enhancers	NHLF	lung
25	chr2:54795800-54801200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:54795800-54801800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:54795800-54801800	Enhancers	Fetal Kidney	kidney
28	chr2:54795800-54802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:54795800-54803000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr2:54795800-54803200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:54795800-54803400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:54795800-54807000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:54795800-54807600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:54796000-54797600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:54796000-54797600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:54796000-54797600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:54796000-54797800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:54796000-54797800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr2:54796000-54798200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:54796000-54798200	Enhancers	Osteobl	bone
41	chr2:54796000-54799400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:54796000-54799400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr2:54796000-54801200	Enhancers	Thymus	Thymus
44	chr2:54796000-54801600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:54796000-54801600	Enhancers	Brain Substantia Nigra	brain
46	chr2:54796000-54801800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:54796000-54802000	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:54796000-54802000	Enhancers	Fetal Lung	lung
49	chr2:54796000-54802200	Enhancers	HSMMtube	muscle
50	chr2:54796000-54802400	Enhancers	Brain Hippocampus Middle	brain

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