Variant report

Variant	rs13003088
Chromosome Location	chr2:30518870-30518871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10206415	1.00[CHB][hapmap]
rs11680075	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681599	1.00[CHB][hapmap]
rs11684717	1.00[CHB][hapmap]
rs11692818	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11694633	1.00[CHB][hapmap]
rs12476050	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13007792	1.00[CHB][hapmap]
rs13391413	0.85[ASN][1000 genomes]
rs17736058	1.00[CHB][hapmap]
rs17792620	1.00[CHB][hapmap]
rs6708166	1.00[CHB][hapmap]
rs6755863	1.00[CHB][hapmap]
rs906864	1.00[CHB][hapmap]
rs906869	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	esv3421324	chr2:30517948-30522246	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
2	chr2:30511200-30523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:30513800-30522800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:30513800-30523400	Weak transcription	Thymus	Thymus
5	chr2:30514000-30522800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:30516600-30522600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:30516600-30522800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:30516800-30519200	Weak transcription	K562	blood
9	chr2:30516800-30522000	Weak transcription	Left Ventricle	heart
10	chr2:30516800-30522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:30516800-30523000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:30516800-30524200	Weak transcription	Lung	lung
13	chr2:30517000-30520600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:30517000-30521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:30517000-30522200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:30517200-30519000	Weak transcription	A549	lung
17	chr2:30517200-30522600	Weak transcription	HSMMtube	muscle
18	chr2:30517400-30519000	Weak transcription	Right Ventricle	heart
19	chr2:30517400-30522800	Weak transcription	NHLF	lung
20	chr2:30517800-30520000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:30518000-30519800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:30518000-30522800	Weak transcription	NH-A	brain
23	chr2:30518200-30524600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:30518800-30519600	Enhancers	Spleen	Spleen
25	chr2:30518800-30519800	Enhancers	Fetal Heart	heart

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