Variant report

Variant	rs58906954
Chromosome Location	chr22:30167055-30167056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30165385-30167411	K562	blood:	n/a	n/a
2	POLR2A	chr22:30166393-30167739	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:30166471-30167199	K562	blood:	n/a	n/a
4	POLR2A	chr22:30165993-30167302	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr22:30166909-30167156	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr22:30166981-30167252	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr22:30165599-30167109	K562	blood:	n/a	n/a
8	POLR2A	chr22:30165652-30167082	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:30166987-30167154	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30165546..30168026-chr22:30174999..30177192,2	MCF-7	breast:
2	chr22:30145045..30147687-chr22:30166151..30168873,2	MCF-7	breast:
3	chr22:30165843..30167692-chr22:30176073..30180493,3	MCF-7	breast:
4	chr22:30160959..30163738-chr22:30164422..30168687,4	MCF-7	breast:
5	chr22:30117740..30119771-chr22:30165612..30167453,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZMAT5	TF binding region
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs2051858	1.00[AMR][1000 genomes]
rs2051859	1.00[AMR][1000 genomes]
rs2107672	1.00[AMR][1000 genomes]
rs2107673	1.00[AMR][1000 genomes]
rs2158535	1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57349783	1.00[AMR][1000 genomes]
rs57561197	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58967191	0.85[AFR][1000 genomes]
rs59632146	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59732153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006286	1.00[AMR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	1.00[AMR][1000 genomes]
rs60613378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61310283	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390967	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392870	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392874	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392894	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394864	1.00[AMR][1000 genomes]
rs73394865	1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394884	1.00[AMR][1000 genomes]
rs73394885	1.00[AMR][1000 genomes]
rs73394887	1.00[AMR][1000 genomes]
rs73394890	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394892	1.00[AMR][1000 genomes]
rs73394897	1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	1.00[AMR][1000 genomes]
rs73396811	1.00[AMR][1000 genomes]
rs73396818	1.00[AMR][1000 genomes]
rs73396822	1.00[AMR][1000 genomes]
rs73396823	1.00[AMR][1000 genomes]
rs73396826	1.00[AMR][1000 genomes]
rs73396827	1.00[AMR][1000 genomes]
rs73396828	1.00[AMR][1000 genomes]
rs73396830	1.00[AMR][1000 genomes]
rs73396886	0.85[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	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
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv817987	chr22:30163526-30169436	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30164400-30167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:30164600-30171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30164600-30183800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:30164600-30185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:30164800-30167200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:30164800-30167400	Strong transcription	Fetal Thymus	thymus
8	chr22:30164800-30167600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr22:30165000-30167200	Strong transcription	A549	lung
10	chr22:30165000-30167400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30165000-30167400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:30165000-30167400	Strong transcription	Osteobl	bone
13	chr22:30165000-30172400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:30165200-30167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:30165200-30167400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:30165200-30167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:30165200-30167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:30165200-30167400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr22:30165200-30167800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:30165200-30168400	Weak transcription	NHDF-Ad	bronchial
21	chr22:30165200-30168800	Strong transcription	Fetal Stomach	stomach
22	chr22:30165400-30167200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:30165400-30167200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30165400-30167200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:30165400-30167200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:30165400-30167200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr22:30165400-30167200	Strong transcription	Brain Hippocampus Middle	brain
28	chr22:30165400-30167200	Strong transcription	Lung	lung
29	chr22:30165400-30167200	Strong transcription	Ovary	ovary
30	chr22:30165400-30167200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr22:30165400-30167200	Strong transcription	Rectal Smooth Muscle	rectum
32	chr22:30165400-30167200	Strong transcription	Spleen	Spleen
33	chr22:30165400-30167400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:30165400-30167400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr22:30165400-30167400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:30165400-30167400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:30165400-30167400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:30165400-30167400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:30165400-30167400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:30165400-30167400	Strong transcription	Fetal Lung	lung
41	chr22:30165400-30167400	Strong transcription	Placenta	Placenta
42	chr22:30165400-30167400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr22:30165400-30167400	Strong transcription	NHLF	lung
44	chr22:30165400-30167600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:30165400-30167600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr22:30165400-30167800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:30165400-30167800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr22:30165400-30167800	Strong transcription	HUVEC	blood vessel
49	chr22:30165400-30176800	Weak transcription	Fetal Brain Male	brain
50	chr22:30165600-30167200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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