Variant report

Variant	rs73401101
Chromosome Location	chr22:29689538-29689539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29689519-29690218	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29671595..29673569-chr22:29687535..29689591,3	K562	blood:
2	chr22:29689537..29691644-chr22:29709816..29711551,2	MCF-7	breast:

Variant related genes	Relation type
EWSR1	TF binding region
ENSG00000100276	Chromatin interaction
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs2231397	1.00[AMR][1000 genomes]
rs56678071	1.00[AMR][1000 genomes]
rs58075735	1.00[AMR][1000 genomes]
rs58668414	1.00[AMR][1000 genomes]
rs58759678	0.81[AFR][1000 genomes]
rs58938110	1.00[AMR][1000 genomes]
rs60160467	1.00[AFR][1000 genomes]
rs60483568	1.00[AMR][1000 genomes]
rs60619083	1.00[AMR][1000 genomes]
rs60770384	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390897	1.00[AMR][1000 genomes]
rs73393032	1.00[AMR][1000 genomes]
rs73393045	1.00[AMR][1000 genomes]
rs73397022	1.00[AMR][1000 genomes]
rs73401064	1.00[AMR][1000 genomes]
rs73401075	1.00[AMR][1000 genomes]
rs73401085	1.00[AMR][1000 genomes]
rs73401086	1.00[AMR][1000 genomes]
rs73401088	1.00[AMR][1000 genomes]
rs73403003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403032	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403036	1.00[AMR][1000 genomes]
rs73403038	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403039	0.83[AFR][1000 genomes]
rs73403058	0.83[AFR][1000 genomes]
rs73403063	0.83[AFR][1000 genomes]
rs73403064	0.83[AFR][1000 genomes]
rs73403080	0.81[AFR][1000 genomes]
rs73405063	1.00[AMR][1000 genomes]
rs73405072	1.00[AMR][1000 genomes]
rs73407010	1.00[AMR][1000 genomes]
rs73407015	1.00[AMR][1000 genomes]
rs73407023	1.00[AMR][1000 genomes]
rs73407027	1.00[AMR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS 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
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29667200-29695000	Strong transcription	Placenta	Placenta
2	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr22:29667800-29697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:29667800-29697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
6	chr22:29668000-29697000	Strong transcription	NHEK	skin
7	chr22:29668000-29697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:29668000-29697200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29668200-29697000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr22:29668200-29697400	Strong transcription	HMEC	breast
15	chr22:29668200-29697600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr22:29668200-29697800	Strong transcription	Fetal Muscle Leg	muscle
17	chr22:29668200-29698000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:29668200-29698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:29668200-29698400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr22:29668400-29697200	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:29668400-29698000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr22:29668600-29697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:29668600-29698000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr22:29668800-29697000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr22:29668800-29697000	Strong transcription	Fetal Lung	lung
26	chr22:29668800-29697200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr22:29668800-29697200	Strong transcription	Osteobl	bone
28	chr22:29668800-29697800	Strong transcription	HSMM	muscle
29	chr22:29669000-29696000	Strong transcription	HUVEC	blood vessel
30	chr22:29669000-29697200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:29669000-29697200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:29669000-29697200	Strong transcription	NH-A	brain
33	chr22:29669000-29698400	Strong transcription	Thymus	Thymus
34	chr22:29669200-29697200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:29669200-29698000	Strong transcription	Fetal Brain Female	brain
36	chr22:29669400-29696600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:29669400-29697000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr22:29669400-29697400	Strong transcription	NHLF	lung
39	chr22:29669400-29698400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:29669400-29698400	Strong transcription	Brain Germinal Matrix	brain
41	chr22:29669600-29697000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:29669600-29697200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:29670400-29695600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:29670400-29697600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:29670600-29702400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr22:29671800-29697200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:29672200-29697400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:29672400-29690200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:29672600-29698800	Strong transcription	Fetal Stomach	stomach
50	chr22:29672800-29697600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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