Variant report

Variant	rs7289600
Chromosome Location	chr22:22085496-22085497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22085275..22087984-chr22:22093360..22095685,2	K562	blood:
2	chr22:22084430..22086760-chr22:22307318..22308898,2	K562	blood:
3	chr22:22071696..22075407-chr22:22082382..22085993,5	K562	blood:
4	chr22:22068417..22069978-chr22:22083536..22086410,2	MCF-7	breast:
5	chr22:22084176..22086091-chr22:22097609..22100060,2	K562	blood:
6	chr22:22068037..22068638-chr22:22085337..22086151,2	K562	blood:
7	chr22:22083663..22085506-chr22:22275492..22277482,2	K562	blood:
8	chr22:22065816..22069479-chr22:22082156..22085627,4	K562	blood:

No data

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11913292	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160982	1.00[EUR][1000 genomes]
rs16984988	1.00[EUR][1000 genomes]
rs17004026	1.00[EUR][1000 genomes]
rs2194827	1.00[EUR][1000 genomes]
rs28436610	1.00[EUR][1000 genomes]
rs55771333	1.00[EUR][1000 genomes]
rs58384889	1.00[EUR][1000 genomes]
rs5994603	1.00[EUR][1000 genomes]
rs5994629	1.00[EUR][1000 genomes]
rs5998534	1.00[EUR][1000 genomes]
rs5998537	1.00[EUR][1000 genomes]
rs5998640	1.00[EUR][1000 genomes]
rs5998657	1.00[EUR][1000 genomes]
rs5998662	1.00[EUR][1000 genomes]
rs5998690	1.00[EUR][1000 genomes]
rs5998733	1.00[EUR][1000 genomes]
rs61232561	1.00[AMR][1000 genomes]
rs61757961	1.00[EUR][1000 genomes]
rs61763373	1.00[EUR][1000 genomes]
rs61763394	1.00[EUR][1000 genomes]
rs73384145	1.00[EUR][1000 genomes]
rs8139523	1.00[EUR][1000 genomes]
rs9607329	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
2	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
4	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
6	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
9	chr22:22069000-22088400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr22:22069200-22088800	Weak transcription	HSMMtube	muscle
11	chr22:22073600-22088800	Weak transcription	Gastric	stomach
12	chr22:22074000-22085800	Weak transcription	Primary B cells from cord blood	blood
13	chr22:22076400-22088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:22077200-22088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:22080800-22088400	Weak transcription	Fetal Kidney	kidney
16	chr22:22081400-22086000	Weak transcription	Right Atrium	heart
17	chr22:22081400-22087800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:22081400-22088200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:22081400-22088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:22081400-22088800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:22081400-22088800	Weak transcription	Brain Angular Gyrus	brain
22	chr22:22081600-22086000	Weak transcription	Pancreas	Pancrea
23	chr22:22081600-22088400	Weak transcription	Brain Anterior Caudate	brain
24	chr22:22081600-22088600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:22081600-22088600	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:22081600-22088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:22081800-22088800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:22082200-22086200	Strong transcription	Thymus	Thymus
29	chr22:22082200-22086800	Strong transcription	Fetal Stomach	stomach
30	chr22:22082200-22088200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:22082400-22085600	Strong transcription	Dnd41	blood
32	chr22:22082400-22086400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:22082400-22086600	Strong transcription	Fetal Muscle Leg	muscle
34	chr22:22082400-22088800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:22082400-22088800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr22:22082600-22085800	Strong transcription	Fetal Brain Female	brain
37	chr22:22082600-22086000	Strong transcription	Brain Germinal Matrix	brain
38	chr22:22082600-22086600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:22082600-22086600	Weak transcription	Fetal Brain Male	brain
40	chr22:22082800-22087200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr22:22083000-22088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:22083000-22089400	Weak transcription	Lung	lung
43	chr22:22084000-22088800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:22084000-22089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:22084200-22086200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:22084200-22088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:22084200-22088800	Weak transcription	Left Ventricle	heart
48	chr22:22084600-22086400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr22:22085000-22085600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr22:22085000-22085600	Enhancers	Ovary	ovary

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