Variant report

Variant	rs56148580
Chromosome Location	chr22:30701386-30701387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30642799..30644915-chr22:30699451..30702374,2	MCF-7	breast:
2	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:
3	chr22:30698659..30701498-chr22:30769224..30771586,2	MCF-7	breast:
4	chr22:30692354..30698688-chr22:30699927..30704803,9	K562	blood:
5	chr22:30701188..30702736-chr22:30752373..30753948,2	MCF-7	breast:
6	chr22:30700771..30701528-chr22:30722149..30722954,2	MCF-7	breast:
7	chr22:30692354..30696074-chr22:30699261..30701537,3	K562	blood:
8	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
9	chr22:30699910..30702358-chr22:30713888..30716292,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099995	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000128342	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11089445	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11703916	0.97[EUR][1000 genomes]
rs11704284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11705056	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11705290	0.97[EUR][1000 genomes]
rs41281641	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs45595946	0.91[EUR][1000 genomes]
rs55721524	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56059256	0.97[EUR][1000 genomes]
rs56147342	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56186404	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30686400-30701800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:30686800-30701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30687600-30701400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:30690800-30701600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:30693400-30701800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:30696400-30703200	Enhancers	Brain Hippocampus Middle	brain
12	chr22:30696400-30703200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr22:30696600-30702400	Enhancers	Right Atrium	heart
14	chr22:30697000-30703600	Enhancers	Brain Substantia Nigra	brain
15	chr22:30697200-30702800	Genic enhancers	HSMM	muscle
16	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:30697600-30701800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:30697600-30703200	Enhancers	Brain Cingulate Gyrus	brain
19	chr22:30697600-30703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr22:30697800-30701600	Enhancers	Small Intestine	intestine
21	chr22:30698000-30702400	Enhancers	Pancreas	Pancrea
22	chr22:30698200-30702400	Enhancers	Right Ventricle	heart
23	chr22:30698600-30702000	Weak transcription	A549	lung
24	chr22:30698600-30705800	Enhancers	Colon Smooth Muscle	Colon
25	chr22:30698800-30701600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:30698800-30705600	Weak transcription	Ovary	ovary
27	chr22:30698800-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:30699200-30704200	Weak transcription	Aorta	Aorta
29	chr22:30699200-30706200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:30699400-30702400	Enhancers	Left Ventricle	heart
31	chr22:30699400-30703000	Enhancers	Fetal Lung	lung
32	chr22:30699600-30702200	Enhancers	Brain Angular Gyrus	brain
33	chr22:30699600-30702400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr22:30699600-30703200	Enhancers	Brain Anterior Caudate	brain
35	chr22:30699600-30703600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:30699600-30706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
38	chr22:30699800-30702400	Enhancers	Fetal Muscle Leg	muscle
39	chr22:30699800-30705600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:30699800-30710000	Weak transcription	HepG2	liver
41	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
42	chr22:30700000-30710000	Enhancers	HMEC	breast
43	chr22:30700200-30702000	Enhancers	Fetal Muscle Trunk	muscle
44	chr22:30700200-30702800	Enhancers	Liver	Liver
45	chr22:30700200-30703800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
48	chr22:30700400-30701400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:30700400-30701400	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:30700400-30701400	Enhancers	Fetal Heart	heart

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