Variant report

Variant	rs6736148
Chromosome Location	chr2:30656586-30656587
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	EGR1	chr2:30656382-30656652	K562	blood:	n/a	chr2:30656548-30656559 chr2:30656542-30656564 chr2:30656546-30656561
2	E2F6	chr2:30656273-30656740	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr2:30656571-30656628	K562	blood:	n/a	n/a
4	MYC	chr2:30656546-30656668	K562	blood:	n/a	n/a
5	USF2	chr2:30656527-30656592	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30656122..30657927-chr2:30882873..30885685,2	K562	blood:

Variant related genes	Relation type
ENSG00000221377	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17009706	1.00[CEU][hapmap]
rs17009740	1.00[CEU][hapmap]
rs17009876	1.00[CEU][hapmap]
rs6714611	1.00[CEU][hapmap]
rs6717336	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742360	1.00[CEU][hapmap]
rs7571421	1.00[CEU][hapmap]
rs7586675	1.00[CEU][hapmap]
rs7593659	1.00[CEU][hapmap]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30645600-30656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:30645800-30656600	Weak transcription	Fetal Lung	lung
3	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
4	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
5	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:30651600-30656600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:30652000-30660800	Weak transcription	K562	blood
8	chr2:30654200-30656600	Weak transcription	Right Atrium	heart
9	chr2:30655400-30656800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:30655400-30656800	Enhancers	Fetal Heart	heart
11	chr2:30655600-30656600	Weak transcription	NHDF-Ad	bronchial
12	chr2:30656200-30657800	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:30656200-30658000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:30656400-30656800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:30656400-30656800	Enhancers	Aorta	Aorta
16	chr2:30656400-30657000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:30656400-30657000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:30656400-30657200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:30656400-30657400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:30656400-30657400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:30656400-30657400	Enhancers	Osteobl	bone
22	chr2:30656400-30657800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:30656400-30658400	Enhancers	Ovary	ovary

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