Variant report

Variant	rs55812000
Chromosome Location	chr2:7202137-7202138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CMPK2-6	chr2:7202001-7202543	NONHSAT068937

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1050563	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17668045	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17668081	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34382674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650814	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55688218	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55814444	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55910201	0.83[AMR][1000 genomes]
rs55977534	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56198546	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56234546	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329647	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62107983	0.83[AMR][1000 genomes]
rs72783719	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72783724	0.93[EUR][1000 genomes]
rs72783730	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72783732	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72783735	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72783743	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783761	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783763	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7425168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921619	0.82[AMR][1000 genomes];0.93[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	nsv469394	chr2:7197199-7230988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv580914	chr2:7197199-7230988	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7189400-7203200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:7189400-7213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
4	chr2:7194400-7202200	Weak transcription	Ovary	ovary
5	chr2:7194400-7210800	Weak transcription	Lung	lung
6	chr2:7194600-7206400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:7194800-7202800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:7195000-7217000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:7198000-7202200	Weak transcription	Adipose Nuclei	Adipose
10	chr2:7199800-7202200	Weak transcription	Psoas Muscle	Psoas
11	chr2:7199800-7203400	Enhancers	Fetal Stomach	stomach
12	chr2:7200000-7203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:7200000-7203400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:7200000-7203400	Weak transcription	Fetal Thymus	thymus
15	chr2:7200200-7203200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:7200400-7202400	Strong transcription	Dnd41	blood
17	chr2:7200400-7203600	Enhancers	Colon Smooth Muscle	Colon
18	chr2:7200400-7203600	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:7200600-7202800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:7200600-7203200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:7200600-7204000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:7200800-7202200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:7200800-7203200	Weak transcription	Primary T cells from cord blood	blood
24	chr2:7201000-7202200	Weak transcription	Aorta	Aorta
25	chr2:7201000-7202400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:7201000-7203000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:7201000-7203400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:7201000-7203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:7201000-7203800	Weak transcription	Left Ventricle	heart
30	chr2:7201200-7202200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:7201200-7202200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:7201200-7202800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:7201800-7203000	Enhancers	Fetal Kidney	kidney

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