Variant report

Variant	rs6747522
Chromosome Location	chr2:30872780-30872781
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30869127..30871765-chr2:30871926..30874749,3	K562	blood:
2	chr2:30864804..30866571-chr2:30870628..30873251,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58730941	0.92[AFR][1000 genomes]
rs59228351	0.83[AFR][1000 genomes]
rs6718986	0.81[AFR][1000 genomes]
rs6738751	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858990	0.92[AFR][1000 genomes]
rs72863005	0.85[AFR][1000 genomes]
rs72863019	0.90[AFR][1000 genomes]
rs72863050	0.88[AFR][1000 genomes]
rs72863089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863091	0.96[AFR][1000 genomes];1.00[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	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:30860400-30878200	Weak transcription	NHLF	lung
6	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
7	chr2:30863600-30882200	Weak transcription	Ovary	ovary
8	chr2:30864000-30874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:30864800-30875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:30864800-30876600	Weak transcription	Osteobl	bone
11	chr2:30865000-30875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:30865200-30873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:30865200-30878200	Weak transcription	A549	lung
15	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
16	chr2:30871400-30873600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:30871600-30873000	Enhancers	Fetal Muscle Leg	muscle
18	chr2:30872200-30873000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:30872200-30873000	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:30872200-30873600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30872200-30876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:30872400-30878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:30872400-30878200	Weak transcription	Left Ventricle	heart
24	chr2:30872600-30872800	Weak transcription	Spleen	Spleen
25	chr2:30872600-30876400	Weak transcription	NHDF-Ad	bronchial
26	chr2:30872600-30876600	Weak transcription	Right Ventricle	heart
27	chr2:30872600-30877600	Weak transcription	HSMMtube	muscle

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