Variant report

Variant	rs13415655
Chromosome Location	chr2:47109711-47109712
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47104590..47107409-chr2:47107469..47109857,2	K562	blood:
2	chr2:47068428..47070813-chr2:47109229..47111715,2	K562	blood:
3	chr2:47108239..47110514-chr2:47142135..47144424,2	MCF-7	breast:
4	chr2:47102971..47104916-chr2:47106990..47109724,2	K562	blood:
5	chr2:47107200..47110279-chr2:47111432..47113663,3	K562	blood:
6	chr2:46917588..46920626-chr2:47107576..47110678,3	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

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]
rs13394007	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410702	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419072	1.00[AFR][1000 genomes];1.00[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	0.92[AFR][1000 genomes];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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47105000-47110000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:47105800-47115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:47106000-47110600	Weak transcription	Gastric	stomach
5	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
6	chr2:47106600-47110000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:47106600-47116000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:47107000-47115800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:47107200-47110800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:47107200-47110800	Enhancers	NHLF	lung
11	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:47107800-47110200	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:47107800-47110200	Enhancers	Right Ventricle	heart
14	chr2:47107800-47110200	Enhancers	HUVEC	blood vessel
15	chr2:47107800-47110400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:47107800-47110600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:47107800-47110600	Enhancers	Placenta	Placenta
18	chr2:47107800-47110800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:47107800-47110800	Enhancers	Left Ventricle	heart
20	chr2:47108000-47110000	Enhancers	Colon Smooth Muscle	Colon
21	chr2:47108200-47110200	Enhancers	Fetal Stomach	stomach
22	chr2:47108200-47110200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:47108200-47110200	Flanking Active TSS	A549	lung
24	chr2:47108200-47110400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:47108200-47110400	Enhancers	Ovary	ovary
26	chr2:47108200-47110400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:47108200-47110400	Enhancers	HSMM	muscle
28	chr2:47108200-47110800	Enhancers	Colonic Mucosa	Colon
29	chr2:47108400-47110000	Enhancers	Adipose Nuclei	Adipose
30	chr2:47108400-47110000	Bivalent Enhancer	HepG2	liver
31	chr2:47108400-47110200	Enhancers	Right Atrium	heart
32	chr2:47108400-47110200	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:47108400-47110600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:47108400-47110600	Enhancers	Fetal Intestine Large	intestine
35	chr2:47108600-47110000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:47108800-47109800	Enhancers	HSMMtube	muscle
37	chr2:47108800-47110200	Enhancers	HMEC	breast
38	chr2:47108800-47110400	Enhancers	Fetal Intestine Small	intestine
39	chr2:47108800-47110800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:47109000-47110000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:47109000-47110200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:47109000-47110200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr2:47109000-47110400	Enhancers	NH-A	brain
44	chr2:47109200-47112200	Enhancers	Osteobl	bone
45	chr2:47109400-47109800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:47109400-47109800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:47109400-47109800	Enhancers	Brain Anterior Caudate	brain
48	chr2:47109400-47109800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:47109400-47110000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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