Variant report

Variant	rs9967751
Chromosome Location	chr2:30569156-30569157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr2:30569054-30569706	H1-hESC	embryonic stem cell:	n/a	chr2:30569414-30569426

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30451354..30455634-chr2:30568138..30570876,3	K562	blood:
2	chr2:30566651..30569438-chr2:30883515..30885753,2	K562	blood:

Variant related genes	Relation type
ENSG00000235997	TF binding region
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4257428	0.82[EUR][1000 genomes]
rs4321410	0.84[EUR][1000 genomes]
rs4331554	0.84[EUR][1000 genomes]
rs4347879	0.84[EUR][1000 genomes]
rs4352268	0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6752940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9967840	0.85[AMR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30554200-30569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30558000-30569400	Weak transcription	Esophagus	oesophagus
3	chr2:30560400-30569400	Weak transcription	Left Ventricle	heart
4	chr2:30560400-30569400	Weak transcription	Right Ventricle	heart
5	chr2:30561000-30569400	Weak transcription	Spleen	Spleen
6	chr2:30567000-30574400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:30568400-30569600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30568600-30569200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:30568600-30569200	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:30568600-30569400	Enhancers	Fetal Heart	heart
11	chr2:30568600-30569400	Enhancers	Fetal Muscle Leg	muscle
12	chr2:30568600-30569400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:30568800-30570000	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:30568800-30571000	Enhancers	Fetal Stomach	stomach
15	chr2:30569000-30569200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:30569000-30569200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:30569000-30569400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:30569000-30569400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:30569000-30569400	Enhancers	Brain Angular Gyrus	brain
20	chr2:30569000-30569400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:30569000-30569600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:30569000-30569600	Enhancers	Fetal Lung	lung
23	chr2:30569000-30570000	Enhancers	Adipose Nuclei	Adipose
24	chr2:30569000-30570000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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