Variant report

Variant	rs73925128
Chromosome Location	chr2:30569365-30569366
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	MAX	chr2:30569324-30570073	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr2:30569274-30569975	H1-hESC	embryonic stem cell:	n/a	chr2:30569414-30569426
3	RAD21	chr2:30569344-30569508	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr2:30569290-30569508	H1-hESC	embryonic stem cell:	n/a	n/a
5	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LBH-2	chr2:30569255-30569981	NONHSAT069906

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11127272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009351	1.00[EUR][1000 genomes]
rs4324357	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4328679	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4352268	1.00[EUR][1000 genomes]
rs56917916	1.00[EUR][1000 genomes]
rs57627825	1.00[EUR][1000 genomes]
rs6741590	1.00[EUR][1000 genomes]
rs6752917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865603	1.00[EUR][1000 genomes]
rs73923292	1.00[EUR][1000 genomes]
rs7590947	1.00[EUR][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:37 , 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	chr2:30568600-30569400	Enhancers	Fetal Heart	heart
9	chr2:30568600-30569400	Enhancers	Fetal Muscle Leg	muscle
10	chr2:30568600-30569400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:30568800-30570000	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:30568800-30571000	Enhancers	Fetal Stomach	stomach
13	chr2:30569000-30569400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:30569000-30569400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:30569000-30569400	Enhancers	Brain Angular Gyrus	brain
16	chr2:30569000-30569400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:30569000-30569600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:30569000-30569600	Enhancers	Fetal Lung	lung
19	chr2:30569000-30570000	Enhancers	Adipose Nuclei	Adipose
20	chr2:30569000-30570000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:30569200-30569400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:30569200-30569400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:30569200-30569400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:30569200-30569400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:30569200-30569400	Enhancers	Ovary	ovary
26	chr2:30569200-30569400	Enhancers	Right Atrium	heart
27	chr2:30569200-30569600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:30569200-30569600	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:30569200-30569600	Enhancers	HUVEC	blood vessel
30	chr2:30569200-30569800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:30569200-30569800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:30569200-30569800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:30569200-30569800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:30569200-30570000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:30569200-30570000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:30569200-30570000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:30569200-30570200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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