Variant report

Variant	rs41281643
Chromosome Location	chr22:30762178-30762179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30760001..30762515-chr22:30764801..30766340,2	MCF-7	breast:
2	chr22:30760279..30763086-chr22:30769464..30771412,2	K562	blood:

Variant related genes	Relation type
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs34096486	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3804077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41308741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9606713	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9606715	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606716	0.83[AMR][1000 genomes]
rs9606717	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606727	0.85[AMR][1000 genomes]
rs9608862	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608865	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608868	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608873	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608876	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608883	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608884	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608886	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608887	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608897	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608900	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608902	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608905	0.85[AMR][1000 genomes]
rs9608906	0.85[AMR][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753400-30771400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:30753400-30775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30753400-30776000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30753400-30777000	Weak transcription	Aorta	Aorta
6	chr22:30753600-30765800	Weak transcription	Fetal Kidney	kidney
7	chr22:30753600-30765800	Weak transcription	Pancreas	Pancrea
8	chr22:30753600-30766400	Weak transcription	Placenta	Placenta
9	chr22:30753600-30769200	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:30753600-30769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:30753600-30770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:30753600-30770200	Weak transcription	Brain Substantia Nigra	brain
13	chr22:30753600-30771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:30753600-30772600	Weak transcription	NHLF	lung
15	chr22:30753600-30772800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:30753600-30773000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:30753600-30773000	Weak transcription	Gastric	stomach
18	chr22:30753600-30773400	Weak transcription	Right Ventricle	heart
19	chr22:30753600-30775400	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:30753600-30775400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:30753600-30776200	Weak transcription	Thymus	Thymus
22	chr22:30753600-30779200	Weak transcription	Left Ventricle	heart
23	chr22:30753600-30779400	Weak transcription	NHEK	skin
24	chr22:30753600-30779600	Weak transcription	NH-A	brain
25	chr22:30753600-30782000	Weak transcription	Colonic Mucosa	Colon
26	chr22:30753600-30782000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
29	chr22:30753800-30768800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr22:30753800-30773400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr22:30753800-30775400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr22:30754000-30768800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:30754000-30771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:30754000-30773400	Weak transcription	Liver	Liver
35	chr22:30754200-30770400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr22:30754200-30772800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr22:30754200-30775400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:30754200-30779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:30754200-30782000	Weak transcription	Fetal Brain Male	brain
40	chr22:30754400-30764400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:30754400-30766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:30754400-30773400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:30754600-30773200	Weak transcription	Brain Angular Gyrus	brain
44	chr22:30755200-30775200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:30755400-30773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:30756000-30766400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr22:30756200-30766200	Weak transcription	Fetal Muscle Leg	muscle
48	chr22:30758000-30762800	Strong transcription	Fetal Stomach	stomach
49	chr22:30759000-30764200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr22:30759000-30772200	Weak transcription	Dnd41	blood

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