Variant report

Variant	rs309270
Chromosome Location	chr2:7203524-7203525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7202953..7205552-chr2:7208876..7210549,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1453125	0.92[ASN][1000 genomes]
rs309261	0.94[ASN][1000 genomes]
rs309262	0.94[ASN][1000 genomes]
rs309265	0.94[ASN][1000 genomes]
rs309266	0.98[ASN][1000 genomes]
rs309269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309271	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs309272	0.99[ASN][1000 genomes]
rs309274	0.99[ASN][1000 genomes]
rs309275	0.99[ASN][1000 genomes]
rs309277	0.98[ASN][1000 genomes]
rs309279	0.97[ASN][1000 genomes]
rs309280	0.98[ASN][1000 genomes]
rs309281	0.98[ASN][1000 genomes]
rs309285	0.98[ASN][1000 genomes]
rs309288	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309289	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309290	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309291	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309292	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309294	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309296	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309297	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309300	0.80[EUR][1000 genomes]
rs309301	0.94[ASN][1000 genomes]
rs367107	0.96[CEU][hapmap]
rs392904	0.96[CEU][hapmap]
rs419970	0.81[CEU][hapmap]
rs424271	0.96[CEU][hapmap]

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7189400-7213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
3	chr2:7194400-7210800	Weak transcription	Lung	lung
4	chr2:7194600-7206400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:7195000-7217000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:7200400-7203600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:7200400-7203600	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:7200600-7204000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:7201000-7203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:7201000-7203800	Weak transcription	Left Ventricle	heart
11	chr2:7202400-7203600	Weak transcription	Psoas Muscle	Psoas
12	chr2:7202800-7205000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr2:7203000-7211400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:7203000-7214400	Weak transcription	Fetal Kidney	kidney
15	chr2:7203000-7217600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:7203200-7204000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:7203200-7204000	ZNF genes & repeats	Dnd41	blood
18	chr2:7203200-7204400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr2:7203400-7204000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:7203400-7204400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr2:7203400-7204400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr2:7203400-7204800	Weak transcription	Aorta	Aorta
23	chr2:7203400-7205000	Strong transcription	Primary T cells from cord blood	blood
24	chr2:7203400-7214000	Weak transcription	Fetal Stomach	stomach

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