Variant report

Variant	rs12988733
Chromosome Location	chr2:30504247-30504248
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: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10171296	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10171305	1.00[CHB][hapmap]
rs10206415	1.00[CHB][hapmap]
rs1039835	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1039836	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11127264	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11678385	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11681599	1.00[CHB][hapmap]
rs11684717	1.00[CHB][hapmap]
rs11694633	1.00[CHB][hapmap]
rs12467372	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12467407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[LWK][hapmap];1.00[ASN][1000 genomes]
rs12476050	1.00[CHB][hapmap]
rs13007792	1.00[CHB][hapmap]
rs17009315	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17736058	1.00[CHB][hapmap]
rs17792620	1.00[CHB][hapmap]
rs2362541	0.87[GIH][hapmap]
rs57667995	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6708166	1.00[CHB][hapmap]
rs6723650	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733372	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs6755863	1.00[CHB][hapmap]
rs7562727	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7604484	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs906864	1.00[CHB][hapmap]
rs9558	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9967884	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12988733	HADHB	cis	parietal	SCAN

Chromatin state (count:25 , 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	chr2:30499800-30510400	Weak transcription	Aorta	Aorta
12	chr2:30500000-30504800	Weak transcription	GM12878-XiMat	blood
13	chr2:30501400-30510800	Enhancers	Primary B cells from cord blood	blood
14	chr2:30501800-30511000	Weak transcription	HSMM	muscle
15	chr2:30502000-30505400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:30502000-30505600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:30502000-30505600	Weak transcription	Fetal Thymus	thymus
18	chr2:30502000-30510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:30502200-30509800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:30502800-30505600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:30503400-30504400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:30503400-30504600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:30503400-30506200	Enhancers	Placenta	Placenta
24	chr2:30503600-30506600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:30503800-30513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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