Variant report

Variant	rs1894474
Chromosome Location	chr22:30238074-30238075
allele	A/G
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	RCOR1	chr22:30237882-30239576	IMR90	lung:	n/a	n/a
2	JUND	chr22:30237963-30238214	K562	blood:	n/a	n/a
3	FOS	chr22:30238018-30238181	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr22:30237978-30238196	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr22:30237958-30238203	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30211412..30212970-chr22:30236507..30238739,2	K562	blood:
2	chr22:30233635..30235405-chr22:30235774..30238672,2	MCF-7	breast:

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1076135	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752978	0.84[ASN][1000 genomes]
rs5763614	0.81[ASN][1000 genomes]
rs5997549	0.92[ASN][1000 genomes]
rs6006288	0.92[ASN][1000 genomes]
rs960987	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3349124	chr22:30238060-30238307	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30234800-30238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:30234800-30238200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:30234800-30238200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr22:30234800-30238400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:30234800-30238400	Weak transcription	HSMMtube	muscle
6	chr22:30234800-30238400	Weak transcription	NH-A	brain
7	chr22:30234800-30239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30235000-30238200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:30235000-30238200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:30235000-30238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:30235000-30238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:30235000-30238200	Weak transcription	Stomach Mucosa	stomach
13	chr22:30235000-30238200	Weak transcription	HSMM	muscle
14	chr22:30235000-30238200	Weak transcription	Osteobl	bone
15	chr22:30235000-30238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:30235000-30238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:30235000-30238400	Weak transcription	HUVEC	blood vessel
18	chr22:30235000-30238400	Weak transcription	NHLF	lung
19	chr22:30235000-30238600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:30235200-30238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:30235200-30238200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:30235200-30238200	Weak transcription	Adipose Nuclei	Adipose
23	chr22:30235200-30238200	Weak transcription	HepG2	liver
24	chr22:30235200-30238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:30235200-30238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:30235400-30238200	Weak transcription	Hela-S3	cervix
27	chr22:30235800-30238400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:30236800-30238200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:30236800-30238200	Weak transcription	HMEC	breast
30	chr22:30237600-30240000	Enhancers	NHDF-Ad	bronchial
31	chr22:30237800-30239000	Enhancers	A549	lung
32	chr22:30237800-30239600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:30237800-30239800	Enhancers	NHEK	skin
34	chr22:30237800-30240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:30238000-30238600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:30238000-30239800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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