Variant report

Variant	rs72942894
Chromosome Location	chr2:98526462-98526463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr2:98526446-98526977	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98525688..98528111-chr2:98529878..98532703,2	MCF-7	breast:
2	chr2:98525286..98526866-chr2:98527040..98529570,2	MCF-7	breast:

Variant related genes	Relation type
TMEM131	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11892146	0.82[AFR][1000 genomes]
rs11900781	0.82[AFR][1000 genomes]
rs11900903	0.86[AFR][1000 genomes]
rs11903844	0.88[AFR][1000 genomes]
rs1503201	0.82[AFR][1000 genomes]
rs1503203	0.82[AFR][1000 genomes]
rs17022209	0.82[AFR][1000 genomes]
rs17022289	0.82[AFR][1000 genomes]
rs17022557	0.82[AFR][1000 genomes]
rs17022736	0.86[AFR][1000 genomes]
rs17025339	0.82[AFR][1000 genomes]
rs35774346	0.84[AFR][1000 genomes]
rs57434542	0.82[AFR][1000 genomes]
rs58187838	0.86[AFR][1000 genomes]
rs60828800	0.82[AFR][1000 genomes]
rs60885334	0.86[AFR][1000 genomes]
rs61712471	0.86[AFR][1000 genomes]
rs6543226	0.82[AFR][1000 genomes]
rs6726775	0.82[AFR][1000 genomes]
rs6736475	0.82[AFR][1000 genomes]
rs6737992	0.82[AFR][1000 genomes]
rs6742955	0.88[AFR][1000 genomes]
rs6746457	0.94[AFR][1000 genomes]
rs72942824	0.86[AFR][1000 genomes]
rs72942830	0.82[AFR][1000 genomes]
rs72942834	0.84[AFR][1000 genomes]
rs72942836	0.82[AFR][1000 genomes]
rs72942856	0.82[AFR][1000 genomes]
rs72942862	0.86[AFR][1000 genomes]
rs72942871	0.94[AFR][1000 genomes]
rs72942872	0.94[AFR][1000 genomes]
rs72942876	0.94[AFR][1000 genomes]
rs72942882	0.84[AFR][1000 genomes]
rs72942885	0.94[AFR][1000 genomes]
rs72942896	0.94[AFR][1000 genomes]
rs72942898	0.94[AFR][1000 genomes]
rs72944808	0.90[AFR][1000 genomes]
rs72944812	0.90[AFR][1000 genomes]
rs72944813	0.90[AFR][1000 genomes]
rs72944825	0.82[AFR][1000 genomes]
rs72944834	0.82[AFR][1000 genomes]
rs72944842	0.82[AFR][1000 genomes]
rs72946409	0.82[AFR][1000 genomes]
rs72946417	0.82[AFR][1000 genomes]
rs72946421	0.82[AFR][1000 genomes]
rs72946425	0.82[AFR][1000 genomes]
rs72946431	0.82[AFR][1000 genomes]
rs72946447	0.82[AFR][1000 genomes]
rs72946448	0.86[AFR][1000 genomes]
rs72946453	0.86[AFR][1000 genomes]
rs7579764	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98503800-98528600	Weak transcription	NHDF-Ad	bronchial
2	chr2:98503800-98536400	Weak transcription	HSMMtube	muscle
3	chr2:98504000-98528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:98504000-98533800	Weak transcription	Spleen	Spleen
5	chr2:98504000-98538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:98504000-98540600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:98504000-98540800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:98504200-98530800	Weak transcription	Thymus	Thymus
9	chr2:98504400-98527000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:98504600-98540800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:98504600-98552200	Weak transcription	NHLF	lung
12	chr2:98504800-98527400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:98505400-98528800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:98505400-98530200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:98507600-98535000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:98509000-98536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:98515800-98540800	Weak transcription	Aorta	Aorta
18	chr2:98516400-98534600	Weak transcription	A549	lung
19	chr2:98517600-98528000	Weak transcription	NH-A	brain
20	chr2:98519600-98541600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:98519800-98538600	Weak transcription	Gastric	stomach
22	chr2:98520200-98528400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:98520200-98546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:98520200-98552200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:98520600-98550600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:98520800-98540400	Weak transcription	Lung	lung
27	chr2:98521200-98532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:98521800-98527400	Strong transcription	Primary T cells from cord blood	blood
29	chr2:98521800-98527600	Strong transcription	Fetal Intestine Large	intestine
30	chr2:98521800-98540400	Weak transcription	Colonic Mucosa	Colon
31	chr2:98522200-98526800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:98522200-98527200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:98522800-98527800	Weak transcription	Osteobl	bone
34	chr2:98523200-98527400	Weak transcription	Small Intestine	intestine
35	chr2:98523200-98536200	Weak transcription	Ovary	ovary
36	chr2:98523200-98540600	Weak transcription	Right Ventricle	heart
37	chr2:98523400-98527800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:98523400-98528800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:98523400-98530200	Weak transcription	Fetal Thymus	thymus
40	chr2:98523400-98530200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:98523400-98536000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:98523400-98536400	Weak transcription	Esophagus	oesophagus
43	chr2:98523400-98536600	Weak transcription	HSMM	muscle
44	chr2:98523400-98540600	Weak transcription	Fetal Brain Female	brain
45	chr2:98523400-98545800	Weak transcription	Fetal Kidney	kidney
46	chr2:98523400-98546200	Weak transcription	HUVEC	blood vessel
47	chr2:98523600-98527000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:98523600-98530800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:98523800-98527400	Weak transcription	Psoas Muscle	Psoas
50	chr2:98523800-98527800	Weak transcription	NHEK	skin

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