Variant report

Variant	rs4530413
Chromosome Location	chr2:30555090-30555091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11127271	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4496370	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4952122	0.90[EUR][1000 genomes]
rs7604316	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:30549000-30555200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:30549600-30557800	Weak transcription	Stomach Mucosa	stomach
3	chr2:30552000-30556200	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:30553600-30559600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:30553800-30555200	ZNF genes & repeats	Gastric	stomach
6	chr2:30553800-30559400	Enhancers	Primary T cells from cord blood	blood
7	chr2:30554000-30555200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:30554000-30555200	ZNF genes & repeats	Fetal Kidney	kidney
9	chr2:30554000-30559600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:30554200-30569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:30554400-30556000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:30554600-30555200	Enhancers	Pancreas	Pancrea
13	chr2:30554600-30555600	Enhancers	Fetal Heart	heart
14	chr2:30554800-30555200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr2:30554800-30555200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:30554800-30555200	Active TSS	Fetal Lung	lung
17	chr2:30554800-30555200	ZNF genes & repeats	Lung	lung
18	chr2:30554800-30557400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:30555000-30555200	Enhancers	Esophagus	oesophagus
20	chr2:30555000-30556000	Weak transcription	Spleen	Spleen
21	chr2:30555000-30557200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:30555000-30557400	Weak transcription	Right Ventricle	heart
23	chr2:30555000-30557600	Enhancers	GM12878-XiMat	blood
24	chr2:30555000-30557800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:30555000-30558200	Enhancers	Primary B cells from cord blood	blood
26	chr2:30555000-30559600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:30555000-30559800	Enhancers	Fetal Thymus	thymus

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