Variant report

Variant	rs73408411
Chromosome Location	chr22:34307916-34307917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:34304733..34311493-chr22:34313014..34317407,8	MCF-7	breast:
2	chr22:34255630..34257426-chr22:34307549..34309607,2	MCF-7	breast:
3	chr22:34300595..34304253-chr22:34306616..34309764,3	MCF-7	breast:
4	chr22:34306645..34309140-chr22:34317602..34320390,2	MCF-7	breast:
5	chr22:34307888..34309466-chr22:34309601..34311587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273082	Chromatin interaction
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10427743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16993014	0.85[AMR][1000 genomes]
rs16993257	1.00[AMR][1000 genomes]
rs16993269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4525791	0.85[AMR][1000 genomes]
rs55833428	1.00[AMR][1000 genomes]
rs55883936	0.87[AMR][1000 genomes]
rs58291897	1.00[EUR][1000 genomes]
rs58484073	0.87[AMR][1000 genomes]
rs59015613	0.85[AMR][1000 genomes]
rs59027659	0.87[AMR][1000 genomes]
rs59594190	0.85[AMR][1000 genomes]
rs60848515	0.85[AMR][1000 genomes]
rs7284260	1.00[EUR][1000 genomes]
rs7287539	1.00[AMR][1000 genomes]
rs7290245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73406608	0.85[AMR][1000 genomes]
rs73406612	0.87[AMR][1000 genomes]
rs73406614	0.87[AMR][1000 genomes]
rs73406626	0.85[AMR][1000 genomes]
rs73406702	1.00[AMR][1000 genomes]
rs73408491	1.00[EUR][1000 genomes]
rs8135517	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34291200-34312800	Weak transcription	HepG2	liver
2	chr22:34291800-34313800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
4	chr22:34294200-34310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:34296600-34313400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:34297400-34313800	Weak transcription	Gastric	stomach
7	chr22:34298800-34310000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:34303800-34314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:34304200-34308200	Enhancers	Brain Substantia Nigra	brain
10	chr22:34304200-34308600	Enhancers	Brain Anterior Caudate	brain
11	chr22:34304600-34313200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr22:34305000-34308200	Enhancers	Right Ventricle	heart
13	chr22:34305000-34310800	Weak transcription	Fetal Brain Female	brain
14	chr22:34305000-34311400	Weak transcription	Stomach Mucosa	stomach
15	chr22:34305000-34313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:34305200-34308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:34305200-34310200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:34305200-34314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:34305600-34313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:34305600-34314200	Weak transcription	Aorta	Aorta
21	chr22:34305800-34314000	Weak transcription	Fetal Intestine Small	intestine
22	chr22:34306000-34314800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:34306200-34308200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr22:34306200-34311800	Weak transcription	Fetal Brain Male	brain
25	chr22:34306200-34312600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:34306200-34314200	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:34306400-34308400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr22:34306400-34313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:34306400-34313600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:34306400-34315000	Weak transcription	NHLF	lung
31	chr22:34306600-34310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr22:34306600-34311200	Weak transcription	Esophagus	oesophagus
33	chr22:34306800-34308200	Enhancers	Brain Cingulate Gyrus	brain
34	chr22:34306800-34308400	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:34306800-34310000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:34306800-34310000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr22:34306800-34310000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr22:34306800-34310600	Weak transcription	Fetal Heart	heart
39	chr22:34306800-34313200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:34306800-34313800	Weak transcription	Psoas Muscle	Psoas
41	chr22:34307000-34308600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr22:34307000-34308600	Enhancers	Left Ventricle	heart
43	chr22:34307000-34313800	Weak transcription	Ovary	ovary
44	chr22:34307000-34314600	Weak transcription	Spleen	Spleen
45	chr22:34307000-34315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr22:34307200-34310400	Weak transcription	GM12878-XiMat	blood
47	chr22:34307200-34312400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:34307200-34312800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr22:34307200-34313600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:34307200-34314200	Weak transcription	Fetal Stomach	stomach

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