Variant report

Variant	rs72943918
Chromosome Location	chr2:113002540-113002541
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113002423..113004405-chr2:113031977..113033609,2	MCF-7	breast:
2	chr2:113001621..113004129-chr2:113004849..113007814,3	MCF-7	breast:
3	chr2:113002216..113004918-chr2:113009956..113011920,4	K562	blood:
4	chr2:112999545..113001797-chr2:113002175..113005170,3	K562	blood:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11883619	1.00[AMR][1000 genomes]
rs11889423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895680	1.00[AMR][1000 genomes]
rs11900735	1.00[AMR][1000 genomes]
rs58131726	1.00[AMR][1000 genomes]
rs60036885	1.00[AMR][1000 genomes]
rs60055516	1.00[AMR][1000 genomes]
rs60851761	1.00[AMR][1000 genomes]
rs61229236	1.00[AMR][1000 genomes]
rs61292232	1.00[AMR][1000 genomes]
rs6542034	1.00[AMR][1000 genomes]
rs72943906	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943935	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943954	1.00[AMR][1000 genomes]
rs72943955	1.00[AMR][1000 genomes]
rs72943965	1.00[AMR][1000 genomes]
rs72943974	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112961000-113009000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:112968000-113011800	Weak transcription	Right Ventricle	heart
3	chr2:112968200-113004000	Weak transcription	Fetal Brain Male	brain
4	chr2:112968200-113009200	Weak transcription	Small Intestine	intestine
5	chr2:112968200-113012000	Weak transcription	Pancreas	Pancrea
6	chr2:112968400-113003800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:112968800-113011400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:112968800-113011800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:112969000-113005200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:112969400-113011800	Weak transcription	Esophagus	oesophagus
11	chr2:112969600-113009000	Weak transcription	Psoas Muscle	Psoas
12	chr2:112970200-113004800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:112970800-113003800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:112970800-113005200	Weak transcription	Gastric	stomach
15	chr2:112970800-113011600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:112971400-113011600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:112971800-113011800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:112974000-113003600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:112974000-113004000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:112978200-113006400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:112979000-113004400	Weak transcription	Lung	lung
22	chr2:112979600-113003200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:112979600-113004000	Weak transcription	Fetal Heart	heart
24	chr2:112979600-113011600	Weak transcription	Fetal Kidney	kidney
25	chr2:112979600-113012000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:112980000-113003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:112980000-113003600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:112980000-113004600	Weak transcription	Placenta	Placenta
29	chr2:112980000-113005400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:112980000-113011800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:112980200-113003200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:112980200-113011600	Weak transcription	HSMM	muscle
33	chr2:112980400-113003200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:112985200-113003400	Weak transcription	Fetal Brain Female	brain
35	chr2:112986000-113003000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:112987200-113003600	Weak transcription	GM12878-XiMat	blood
37	chr2:112987200-113004000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:112987200-113010800	Weak transcription	NH-A	brain
39	chr2:112987200-113011000	Weak transcription	NHDF-Ad	bronchial
40	chr2:112987400-113005600	Weak transcription	Aorta	Aorta
41	chr2:112987400-113011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:112987800-113011000	Weak transcription	NHEK	skin
43	chr2:112987800-113011800	Weak transcription	NHLF	lung
44	chr2:112988400-113011600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:112989400-113004000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:112990800-113009200	Weak transcription	Hela-S3	cervix
47	chr2:112991200-113003400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:112992200-113011400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:112992200-113011800	Weak transcription	HSMMtube	muscle
50	chr2:112992800-113003600	Weak transcription	Fetal Lung	lung

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