Variant report

Variant	rs13394007
Chromosome Location	chr2:47110774-47110775
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	chr2:47068428..47070813-chr2:47109229..47111715,2	K562	blood:
2	chr2:47050047..47052798-chr2:47110089..47111890,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10190862	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10190882	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10197474	1.00[EUR][1000 genomes]
rs13410702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415655	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419072	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035813	0.81[EUR][1000 genomes]
rs17035823	0.81[EUR][1000 genomes]
rs17035859	0.94[EUR][1000 genomes]
rs17035867	0.94[EUR][1000 genomes]
rs17035884	0.94[EUR][1000 genomes]
rs2084192	0.88[EUR][1000 genomes]
rs55872217	0.94[EUR][1000 genomes]
rs56213467	0.94[EUR][1000 genomes]
rs58589709	0.94[EUR][1000 genomes]
rs60194846	0.88[EUR][1000 genomes]
rs62136788	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62136818	0.94[EUR][1000 genomes]
rs62136819	0.94[EUR][1000 genomes]
rs62136820	0.94[EUR][1000 genomes]
rs62136822	0.94[EUR][1000 genomes]
rs6544938	0.84[EUR][1000 genomes]
rs6714269	0.81[EUR][1000 genomes]
rs6715391	0.94[EUR][1000 genomes]
rs6715620	0.94[EUR][1000 genomes]
rs6729120	0.94[EUR][1000 genomes]
rs6743994	0.94[EUR][1000 genomes]
rs6745578	0.89[EUR][1000 genomes]
rs71423929	0.88[EUR][1000 genomes]
rs720827	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7340475	0.94[EUR][1000 genomes]
rs73926966	0.94[EUR][1000 genomes]
rs754411	0.94[EUR][1000 genomes]
rs7575172	0.88[EUR][1000 genomes]
rs7596198	0.94[EUR][1000 genomes]
rs8861	0.94[EUR][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	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47105800-47115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
4	chr2:47106600-47116000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:47107000-47115800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:47107200-47110800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:47107200-47110800	Enhancers	NHLF	lung
8	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:47107800-47110800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47107800-47110800	Enhancers	Left Ventricle	heart
11	chr2:47108200-47110800	Enhancers	Colonic Mucosa	Colon
12	chr2:47108800-47110800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:47109200-47112200	Enhancers	Osteobl	bone
14	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
16	chr2:47109600-47110800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:47109600-47112800	Weak transcription	Fetal Kidney	kidney
18	chr2:47109600-47116000	Weak transcription	Fetal Lung	lung
19	chr2:47109800-47114200	Weak transcription	HSMMtube	muscle
20	chr2:47109800-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:47110000-47110800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:47110000-47111400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:47110000-47114200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:47110200-47112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:47110200-47112600	Weak transcription	Fetal Stomach	stomach
26	chr2:47110200-47112800	Weak transcription	Right Atrium	heart
27	chr2:47110200-47112800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:47110200-47113200	Enhancers	A549	lung
29	chr2:47110200-47115400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:47110200-47115800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:47110200-47115800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:47110200-47116000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:47110200-47116000	Weak transcription	HUVEC	blood vessel
34	chr2:47110400-47111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:47110400-47111800	Weak transcription	NH-A	brain
36	chr2:47110400-47112400	Weak transcription	HSMM	muscle
37	chr2:47110400-47112800	Weak transcription	Ovary	ovary
38	chr2:47110400-47114000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:47110400-47115200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:47110600-47110800	Enhancers	Gastric	stomach
41	chr2:47110600-47111000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:47110600-47114000	Weak transcription	Placenta	Placenta

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