Variant report

Variant	rs5752965
Chromosome Location	chr22:30213507-30213508
allele	C/G
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	chr22:30213428-30213576	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30211621..30214094-chr22:30399623..30401520,2	K562	blood:
2	chr22:30212293..30214646-chr22:30228307..30229827,2	MCF-7	breast:
3	chr22:30200496..30202537-chr22:30212324..30214845,2	MCF-7	breast:

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100330	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12628534	1.00[AFR][1000 genomes]
rs5752967	1.00[AFR][1000 genomes]
rs5763393	1.00[AFR][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	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	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
4	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
5	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
6	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
15	chr22:30195400-30222000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:30195400-30222200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr22:30196000-30217000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:30196200-30215400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:30196200-30217200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:30196200-30217200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:30196400-30221200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:30197000-30222200	Strong transcription	Dnd41	blood
25	chr22:30197400-30216000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr22:30197400-30216200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr22:30199200-30222000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:30204000-30214200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:30204200-30217000	Weak transcription	Fetal Heart	heart
31	chr22:30205800-30215800	Strong transcription	Aorta	Aorta
32	chr22:30205800-30216000	Strong transcription	Spleen	Spleen
33	chr22:30205800-30217000	Strong transcription	Fetal Intestine Large	intestine
34	chr22:30205800-30222000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:30206000-30214200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:30206000-30214800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr22:30206000-30215800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:30206000-30217000	Strong transcription	GM12878-XiMat	blood
39	chr22:30206000-30221800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:30206000-30221800	Strong transcription	Brain Anterior Caudate	brain
41	chr22:30206200-30214000	Genic enhancers	Liver	Liver
42	chr22:30206200-30214600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:30206200-30215600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr22:30206600-30216000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:30206600-30216400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30208000-30217800	Strong transcription	Primary B cells from cord blood	blood
47	chr22:30208600-30216000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr22:30208600-30217200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr22:30208800-30213600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:30208800-30214600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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