Variant report

Variant	rs8140116
Chromosome Location	chr22:30754038-30754039
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30692983..30695862-chr22:30751814..30754169,4	MCF-7	breast:
2	chr22:30684284..30686749-chr22:30752450..30754272,3	MCF-7	breast:
3	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
4	chr22:30736285..30738437-chr22:30751447..30754136,2	K562	blood:
5	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
6	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
7	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
8	chr22:30689967..30692152-chr22:30752675..30754508,2	MCF-7	breast:
9	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
10	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
11	chr22:30736285..30738543-chr22:30751447..30754136,3	K562	blood:
12	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:
13	chr22:30712771..30715254-chr22:30752580..30754854,2	MCF-7	breast:
14	chr22:30722006..30724246-chr22:30752442..30754508,2	K562	blood:

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7286258	0.85[AMR][1000 genomes]
rs73881432	0.81[AFR][1000 genomes]
rs73881434	0.82[AFR][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	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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30750600-30754400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:30751400-30754200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr22:30751600-30754200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr22:30751600-30754200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr22:30751800-30754200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr22:30752800-30754200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:30752800-30754400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
9	chr22:30753400-30754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:30753400-30761600	Weak transcription	Esophagus	oesophagus
11	chr22:30753400-30771400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr22:30753400-30775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:30753400-30776000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:30753400-30777000	Weak transcription	Aorta	Aorta
15	chr22:30753600-30754200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:30753600-30754200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr22:30753600-30754200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr22:30753600-30754200	Weak transcription	Brain Angular Gyrus	brain
19	chr22:30753600-30754200	Active TSS	Brain Anterior Caudate	brain
20	chr22:30753600-30754200	Enhancers	Brain Cingulate Gyrus	brain
21	chr22:30753600-30754200	Enhancers	Fetal Brain Male	brain
22	chr22:30753600-30754200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:30753600-30754200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr22:30753600-30754200	Enhancers	Fetal Thymus	thymus
25	chr22:30753600-30754200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr22:30753600-30754200	Enhancers	Stomach Smooth Muscle	stomach
27	chr22:30753600-30754200	Enhancers	K562	blood
28	chr22:30753600-30754600	Enhancers	Dnd41	blood
29	chr22:30753600-30754800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:30753600-30755200	Enhancers	Fetal Intestine Large	intestine
31	chr22:30753600-30755400	Weak transcription	Fetal Stomach	stomach
32	chr22:30753600-30758200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:30753600-30758600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr22:30753600-30758600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:30753600-30761600	Weak transcription	Lung	lung
36	chr22:30753600-30761800	Weak transcription	Fetal Lung	lung
37	chr22:30753600-30762000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:30753600-30765800	Weak transcription	Fetal Kidney	kidney
39	chr22:30753600-30765800	Weak transcription	Pancreas	Pancrea
40	chr22:30753600-30766400	Weak transcription	Placenta	Placenta
41	chr22:30753600-30769200	Weak transcription	Brain Hippocampus Middle	brain
42	chr22:30753600-30769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr22:30753600-30770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:30753600-30770200	Weak transcription	Brain Substantia Nigra	brain
45	chr22:30753600-30771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:30753600-30772600	Weak transcription	NHLF	lung
47	chr22:30753600-30772800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:30753600-30773000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:30753600-30773000	Weak transcription	Gastric	stomach
50	chr22:30753600-30773400	Weak transcription	Right Ventricle	heart

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