Variant report

Variant	rs4952117
Chromosome Location	chr2:30503284-30503285
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30502244..30505490-chr2:30505646..30508832,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11694633	0.80[EUR][1000 genomes]
rs13007792	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17736058	1.00[ASN][1000 genomes]
rs17792620	1.00[ASN][1000 genomes]
rs1973573	1.00[ASN][1000 genomes]
rs4951987	0.86[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
3	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:30494800-30505800	Weak transcription	K562	blood
5	chr2:30496400-30509800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
7	chr2:30496800-30506800	Weak transcription	Left Ventricle	heart
8	chr2:30497800-30505600	Weak transcription	Spleen	Spleen
9	chr2:30497800-30516400	Weak transcription	Gastric	stomach
10	chr2:30498000-30505600	Weak transcription	Fetal Stomach	stomach
11	chr2:30498400-30503600	Weak transcription	NH-A	brain
12	chr2:30499800-30510400	Weak transcription	Aorta	Aorta
13	chr2:30500000-30504800	Weak transcription	GM12878-XiMat	blood
14	chr2:30500200-30503400	Weak transcription	A549	lung
15	chr2:30500600-30503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:30500600-30503400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:30500800-30503600	Weak transcription	HSMMtube	muscle
18	chr2:30501400-30510800	Enhancers	Primary B cells from cord blood	blood
19	chr2:30501600-30503400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30501800-30511000	Weak transcription	HSMM	muscle
21	chr2:30502000-30503600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:30502000-30505400	Weak transcription	Primary T cells from cord blood	blood
23	chr2:30502000-30505600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:30502000-30505600	Weak transcription	Fetal Thymus	thymus
25	chr2:30502000-30510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:30502200-30509800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:30502800-30505600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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