Variant report

Variant	rs16993269
Chromosome Location	chr22:34306150-34306151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:34296334..34297959-chr22:34304595..34307456,3	MCF-7	breast:
2	chr22:34304733..34311493-chr22:34313014..34317407,8	MCF-7	breast:
3	chr22:34305108..34307624-chr22:34315419..34317424,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10427743	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16993014	0.85[AMR][1000 genomes]
rs16993242	0.81[YRI][hapmap]
rs16993257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4525791	0.85[AMR][1000 genomes]
rs55833428	1.00[AFR][1000 genomes];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[YRI][hapmap];0.99[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408491	1.00[EUR][1000 genomes]
rs8135517	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 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	chr22:34293800-34306200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
5	chr22:34294200-34310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:34296600-34313400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:34297400-34313800	Weak transcription	Gastric	stomach
8	chr22:34298400-34307000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:34298600-34306600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:34298600-34306800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:34298800-34310000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:34302800-34306200	Enhancers	Fetal Heart	heart
13	chr22:34303000-34306400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:34303200-34306600	Enhancers	Left Ventricle	heart
15	chr22:34303400-34307600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:34303800-34314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:34304000-34306200	Enhancers	Fetal Stomach	stomach
18	chr22:34304000-34306400	Weak transcription	Esophagus	oesophagus
19	chr22:34304000-34306600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:34304200-34306200	Enhancers	HSMMtube	muscle
21	chr22:34304200-34306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:34304200-34308200	Enhancers	Brain Substantia Nigra	brain
23	chr22:34304200-34308600	Enhancers	Brain Anterior Caudate	brain
24	chr22:34304400-34306200	Enhancers	Fetal Muscle Leg	muscle
25	chr22:34304400-34306400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:34304400-34306400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:34304400-34306600	Weak transcription	Lung	lung
28	chr22:34304400-34306600	Weak transcription	GM12878-XiMat	blood
29	chr22:34304600-34306200	Enhancers	HSMM	muscle
30	chr22:34304600-34306400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:34304600-34307400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr22:34304600-34313200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr22:34304800-34306600	Enhancers	NHDF-Ad	bronchial
34	chr22:34304800-34306800	Enhancers	Psoas Muscle	Psoas
35	chr22:34305000-34306200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr22:34305000-34306200	Enhancers	Osteobl	bone
37	chr22:34305000-34307400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr22:34305000-34308200	Enhancers	Right Ventricle	heart
39	chr22:34305000-34310800	Weak transcription	Fetal Brain Female	brain
40	chr22:34305000-34311400	Weak transcription	Stomach Mucosa	stomach
41	chr22:34305000-34313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:34305200-34306200	Enhancers	Rectal Smooth Muscle	rectum
43	chr22:34305200-34306600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:34305200-34306800	Enhancers	Colon Smooth Muscle	Colon
45	chr22:34305200-34307000	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:34305200-34307200	Weak transcription	Brain Angular Gyrus	brain
47	chr22:34305200-34308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:34305200-34310200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:34305200-34314400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:34305400-34306400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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