Variant report

Variant	rs7569818
Chromosome Location	chr2:30517018-30517019
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17736195	1.00[CEU][hapmap]
rs34376141	0.90[ASN][1000 genomes]
rs35996628	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:31 , 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	chr2:30515200-30517200	Enhancers	HSMMtube	muscle
11	chr2:30515800-30517200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:30516000-30517400	Enhancers	Fetal Thymus	thymus
13	chr2:30516000-30517400	Enhancers	NHLF	lung
14	chr2:30516600-30518000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:30516600-30518800	Weak transcription	Spleen	Spleen
16	chr2:30516600-30522600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:30516600-30522800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:30516800-30517200	Weak transcription	Right Ventricle	heart
19	chr2:30516800-30517200	Enhancers	A549	lung
20	chr2:30516800-30517400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:30516800-30519200	Weak transcription	K562	blood
22	chr2:30516800-30522000	Weak transcription	Left Ventricle	heart
23	chr2:30516800-30522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:30516800-30523000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:30516800-30524200	Weak transcription	Lung	lung
26	chr2:30517000-30517800	Weak transcription	NH-A	brain
27	chr2:30517000-30518200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:30517000-30518800	Weak transcription	Fetal Heart	heart
29	chr2:30517000-30520600	Weak transcription	Primary B cells from cord blood	blood
30	chr2:30517000-30521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:30517000-30522200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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