Variant report

Variant	rs11884950
Chromosome Location	chr2:179746213-179746214
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	chr2:179745902..179747990-chr2:179754251..179756238,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10165177	0.91[EUR][1000 genomes]
rs10803920	0.95[EUR][1000 genomes]
rs12693171	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565287	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4637162	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4894055	0.95[EUR][1000 genomes]
rs4894057	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4894060	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56345539	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433738	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707222	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734390	0.88[EUR][1000 genomes]
rs72957359	1.00[ASN][1000 genomes]
rs7570928	0.88[EUR][1000 genomes]
rs7573700	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
2	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:179729200-179749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:179729600-179747200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:179730600-179749000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:179730800-179750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:179733800-179754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
16	chr2:179737000-179747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:179737200-179749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:179739600-179747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:179739800-179746800	Weak transcription	Aorta	Aorta
20	chr2:179739800-179747000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:179739800-179747400	Weak transcription	HSMM	muscle
22	chr2:179739800-179755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:179740200-179747400	Weak transcription	Pancreas	Pancrea
24	chr2:179742600-179750400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:179742800-179747400	Weak transcription	Psoas Muscle	Psoas
26	chr2:179743000-179750800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:179744400-179746600	Enhancers	HMEC	breast
28	chr2:179744600-179753600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:179744800-179746800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:179744800-179747200	Weak transcription	NHEK	skin
31	chr2:179744800-179747400	Weak transcription	Left Ventricle	heart
32	chr2:179745200-179746400	Strong transcription	Primary B cells from cord blood	blood
33	chr2:179745200-179749600	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:179745400-179749000	Weak transcription	HSMMtube	muscle
35	chr2:179746000-179746600	Weak transcription	NHLF	lung
36	chr2:179746200-179747000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:179746200-179747800	Weak transcription	Fetal Heart	heart

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