Variant report

Variant	rs73382377
Chromosome Location	chr22:22030653-22030654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22030525..22032329-chr22:22096082..22098311,2	K562	blood:
2	chr22:22020123..22021841-chr22:22030160..22032394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55671725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57627852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57847073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58003061	1.00[EUR][1000 genomes]
rs59492453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59785257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59864261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59916934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382369	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382399	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384110	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr22:22021400-22032000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
3	chr22:22021400-22036600	Weak transcription	A549	lung
4	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
5	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:22023400-22030800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr22:22023400-22031000	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:22023400-22031200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:22023400-22032400	Strong transcription	Lung	lung
10	chr22:22023400-22034000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:22023600-22030800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr22:22023600-22032600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr22:22023600-22032600	Strong transcription	Thymus	Thymus
14	chr22:22023600-22032800	Strong transcription	Spleen	Spleen
15	chr22:22023800-22030800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:22023800-22030800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr22:22023800-22030800	Strong transcription	Ovary	ovary
18	chr22:22024000-22030800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr22:22024000-22032000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:22024000-22033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:22024000-22033400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:22024200-22031200	Strong transcription	Brain Angular Gyrus	brain
23	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
24	chr22:22024600-22030800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr22:22024800-22031000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:22025000-22030800	Strong transcription	Aorta	Aorta
28	chr22:22025200-22031400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:22026000-22040800	Weak transcription	Hela-S3	cervix
30	chr22:22026600-22032000	Weak transcription	Right Atrium	heart
31	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr22:22026800-22030800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr22:22026800-22040800	Weak transcription	NHDF-Ad	bronchial
34	chr22:22027000-22049200	Weak transcription	Fetal Heart	heart
35	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
36	chr22:22027200-22039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:22027200-22045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:22027600-22051000	Weak transcription	Psoas Muscle	Psoas
39	chr22:22028400-22032600	Strong transcription	Esophagus	oesophagus
40	chr22:22029400-22036000	Weak transcription	HMEC	breast
41	chr22:22029600-22031800	Weak transcription	HepG2	liver
42	chr22:22029600-22036400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:22030200-22035200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr22:22030200-22036800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:22030400-22030800	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr22:22030400-22031800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:22030400-22031800	Weak transcription	Liver	Liver
48	chr22:22030400-22031800	Weak transcription	Brain Germinal Matrix	brain
49	chr22:22030400-22032000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:22030400-22032000	Weak transcription	NHLF	lung

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