Variant report

Variant	rs72879063
Chromosome Location	chr2:47456161-47456162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47401787..47404343-chr2:47454142..47456763,3	MCF-7	breast:
2	chr2:47399705..47406684-chr2:47448496..47456698,16	K562	blood:
3	chr2:47452506..47455221-chr2:47456148..47458002,2	K562	blood:
4	chr2:47419286..47421209-chr2:47454882..47457693,2	MCF-7	breast:
5	chr2:47451335..47453658-chr2:47453697..47456326,2	MCF-7	breast:
6	chr2:47399705..47405092-chr2:47450546..47458227,19	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000226087	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10221560	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13384441	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13390912	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13430277	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72879030	0.84[ASN][1000 genomes]
rs998587	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47453200-47457600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:47453200-47457800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:47453200-47459600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:47453600-47457400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:47453600-47457600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:47453800-47463600	Weak transcription	Right Atrium	heart
7	chr2:47453800-47463800	Weak transcription	Spleen	Spleen
8	chr2:47454000-47457600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:47454000-47458800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47454000-47461000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:47454200-47457400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:47454200-47457400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:47454200-47457600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:47454600-47457600	Weak transcription	Liver	Liver
15	chr2:47454800-47461000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:47455000-47459600	Weak transcription	NHLF	lung
17	chr2:47455200-47457600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:47455400-47456600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:47455400-47457400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:47455400-47457400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:47455400-47457600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:47455400-47457600	Weak transcription	HSMM	muscle
23	chr2:47455400-47459600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:47455400-47463600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:47455400-47463600	Weak transcription	HSMMtube	muscle
26	chr2:47455600-47456200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:47455600-47460000	Weak transcription	Fetal Intestine Large	intestine
28	chr2:47455600-47461000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:47455600-47463600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:47455600-47464600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:47455800-47457600	Weak transcription	Ovary	ovary
32	chr2:47455800-47460000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:47455800-47460800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:47455800-47461400	Weak transcription	K562	blood
35	chr2:47456000-47463600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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