Variant report

Variant	rs6949512
Chromosome Location	chr7:47814929-47814930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47814103..47816415-chr7:47816480..47819252,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10276437	0.83[LWK][hapmap]
rs12666913	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12671226	0.82[ASN][1000 genomes]
rs12673415	0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs1453288	0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs17545292	0.92[CHB][hapmap];0.97[CHD][hapmap];0.88[ASN][1000 genomes]
rs17659711	0.83[ASN][1000 genomes]
rs17710633	0.84[ASN][1000 genomes]
rs17710675	0.83[ASN][1000 genomes]
rs1869322	0.83[ASN][1000 genomes]
rs1869323	0.83[ASN][1000 genomes]
rs2348460	0.88[CHD][hapmap]
rs3734933	0.83[ASN][1000 genomes]
rs4724645	0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs57931259	0.88[ASN][1000 genomes]
rs58963857	0.88[ASN][1000 genomes]
rs62448545	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448548	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448549	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448550	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62448553	0.84[ASN][1000 genomes]
rs62448554	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6949512	IKZF1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47806200-47815600	Weak transcription	NHLF	lung
2	chr7:47812200-47815000	Enhancers	Aorta	Aorta
3	chr7:47812400-47816000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:47812800-47817400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:47813000-47817400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:47813000-47817400	Weak transcription	Fetal Intestine Large	intestine
7	chr7:47813400-47817400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:47814400-47815000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:47814400-47815200	Flanking Active TSS	A549	lung
10	chr7:47814400-47816200	Enhancers	Liver	Liver
11	chr7:47814400-47816200	Enhancers	HSMMtube	muscle
12	chr7:47814400-47816400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:47814400-47816400	Enhancers	HSMM	muscle
14	chr7:47814400-47823200	Enhancers	HepG2	liver
15	chr7:47814600-47815000	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:47814600-47815000	Enhancers	NH-A	brain
17	chr7:47814600-47815800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:47814600-47815800	Enhancers	Osteobl	bone
19	chr7:47814800-47815000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:47814800-47817600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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