Variant report

Variant	rs35996628
Chromosome Location	chr2:30517358-30517359
allele	A/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:5)

rs_ID	r²[population]
rs11692818	0.85[ASN][1000 genomes]
rs34376141	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6755863	0.82[AMR][1000 genomes]
rs71444456	0.83[AMR][1000 genomes]
rs7569818	0.93[ASN][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	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

No data

Chromatin state (count:30 , 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	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
3	chr2:30511200-30523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:30513800-30522800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:30513800-30523400	Weak transcription	Thymus	Thymus
6	chr2:30514000-30522800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:30514800-30517400	Enhancers	HSMM	muscle
8	chr2:30515000-30518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:30515000-30518200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:30516000-30517400	Enhancers	Fetal Thymus	thymus
11	chr2:30516000-30517400	Enhancers	NHLF	lung
12	chr2:30516600-30518000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:30516600-30518800	Weak transcription	Spleen	Spleen
14	chr2:30516600-30522600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:30516600-30522800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:30516800-30517400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:30516800-30519200	Weak transcription	K562	blood
18	chr2:30516800-30522000	Weak transcription	Left Ventricle	heart
19	chr2:30516800-30522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:30516800-30523000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:30516800-30524200	Weak transcription	Lung	lung
22	chr2:30517000-30517800	Weak transcription	NH-A	brain
23	chr2:30517000-30518200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:30517000-30518800	Weak transcription	Fetal Heart	heart
25	chr2:30517000-30520600	Weak transcription	Primary B cells from cord blood	blood
26	chr2:30517000-30521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:30517000-30522200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:30517200-30517400	Enhancers	Right Ventricle	heart
29	chr2:30517200-30519000	Weak transcription	A549	lung
30	chr2:30517200-30522600	Weak transcription	HSMMtube	muscle

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