Variant report

Variant	rs56363239
Chromosome Location	chr2:99321237-99321238
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99320303..99322866-chr2:99324363..99327818,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10172913	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10496329	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12467276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12468086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469616	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2309434	0.83[ASN][1000 genomes]
rs2871235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633363	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55646762	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56027617	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56354279	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56375699	0.83[ASN][1000 genomes]
rs60889948	0.80[ASN][1000 genomes]
rs62158010	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62158015	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62158019	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62158020	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62158022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:99295000-99325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:99313000-99327000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:99313200-99326600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:99314200-99322000	Enhancers	Fetal Intestine Small	intestine
7	chr2:99315000-99322200	Enhancers	Fetal Intestine Large	intestine
8	chr2:99316400-99325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:99316600-99336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:99317400-99321400	Enhancers	Liver	Liver
11	chr2:99317400-99321800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:99317600-99321800	Enhancers	Fetal Heart	heart
13	chr2:99317600-99322000	Enhancers	Stomach Mucosa	stomach
14	chr2:99317800-99321600	Enhancers	Brain Hippocampus Middle	brain
15	chr2:99317800-99322800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:99318000-99325200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:99318400-99322800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:99318600-99322200	Enhancers	Right Ventricle	heart
19	chr2:99319000-99321600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:99319000-99325400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:99319200-99321600	Weak transcription	Esophagus	oesophagus
22	chr2:99319200-99322000	Enhancers	Primary T cells from cord blood	blood
23	chr2:99319200-99322600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:99319200-99323200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:99319200-99324000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:99319200-99325000	Weak transcription	Psoas Muscle	Psoas
27	chr2:99319200-99325400	Weak transcription	Aorta	Aorta
28	chr2:99319200-99325400	Weak transcription	Ovary	ovary
29	chr2:99319200-99336800	Weak transcription	Spleen	Spleen
30	chr2:99319400-99324000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:99319600-99321600	Enhancers	HepG2	liver
32	chr2:99319800-99322000	Enhancers	Left Ventricle	heart
33	chr2:99319800-99322000	Enhancers	Pancreas	Pancrea
34	chr2:99319800-99322000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:99319800-99322200	Enhancers	Right Atrium	heart
36	chr2:99319800-99325400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:99320000-99322000	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:99320200-99325400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:99320400-99321600	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:99320400-99324000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:99320400-99325000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:99320400-99325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:99320400-99325400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:99320400-99325600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:99320400-99325800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:99320600-99321600	Enhancers	Fetal Kidney	kidney
47	chr2:99320600-99321600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:99320600-99321800	Enhancers	Colonic Mucosa	Colon
49	chr2:99320600-99323200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:99320600-99324000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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