Variant report

Variant	rs12469902
Chromosome Location	chr2:30509893-30509894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30508605..30511135-chr2:30512104..30514404,2	K562	blood:
2	chr2:30504654..30506690-chr2:30509029..30511575,2	K562	blood:
3	chr2:30509284..30511862-chr2:30512040..30514428,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10495774	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472981	1.00[ASN][1000 genomes]
rs12475240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396720	1.00[ASN][1000 genomes]
rs13406665	1.00[ASN][1000 genomes]
rs13410030	1.00[ASN][1000 genomes]
rs17322090	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17322097	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17394102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787730	1.00[ASN][1000 genomes]
rs72787734	1.00[ASN][1000 genomes]
rs72787741	1.00[ASN][1000 genomes]
rs72787743	1.00[ASN][1000 genomes]
rs72787745	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787748	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787765	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7563661	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7569754	1.00[ASN][1000 genomes]
rs7572714	1.00[ASN][1000 genomes]
rs7579019	1.00[ASN][1000 genomes]
rs7587320	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7606266	1.00[ASN][1000 genomes]
rs7608977	1.00[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	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
3	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:39 , 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	chr2:30497800-30516400	Weak transcription	Gastric	stomach
4	chr2:30499800-30510400	Weak transcription	Aorta	Aorta
5	chr2:30501400-30510800	Enhancers	Primary B cells from cord blood	blood
6	chr2:30501800-30511000	Weak transcription	HSMM	muscle
7	chr2:30502000-30510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:30503800-30513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:30504600-30510000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:30505800-30510000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:30506400-30510000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:30506600-30510000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:30507000-30516000	Weak transcription	Spleen	Spleen
14	chr2:30507200-30510000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:30507600-30511000	Weak transcription	NHLF	lung
16	chr2:30507600-30512200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:30507600-30512600	Weak transcription	K562	blood
18	chr2:30507600-30516000	Weak transcription	Left Ventricle	heart
19	chr2:30507600-30516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:30507800-30511000	Weak transcription	NHDF-Ad	bronchial
21	chr2:30509400-30511600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:30509400-30512200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:30509600-30510800	Enhancers	Primary T cells from cord blood	blood
24	chr2:30509600-30512000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:30509600-30514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:30509800-30510600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:30509800-30510600	Enhancers	Dnd41	blood
28	chr2:30509800-30510600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:30509800-30510800	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:30509800-30511600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:30509800-30511800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:30509800-30511800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:30509800-30511800	Enhancers	Fetal Thymus	thymus
34	chr2:30509800-30512000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:30509800-30512200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:30509800-30512200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:30509800-30512400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:30509800-30512400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:30509800-30514000	Enhancers	Primary hematopoietic stem cells	blood

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