Variant report

Variant	rs73400621
Chromosome Location	chr22:30431654-30431655
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	chr22:30422072..30424953-chr22:30431511..30433741,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11090582	1.00[EUR][1000 genomes]
rs12166580	1.00[EUR][1000 genomes]
rs12166648	1.00[EUR][1000 genomes]
rs16988115	0.83[AMR][1000 genomes]
rs16988122	0.83[AMR][1000 genomes]
rs16988151	0.83[AMR][1000 genomes]
rs2285645	0.92[AFR][1000 genomes]
rs28647168	0.83[AMR][1000 genomes]
rs41479445	1.00[EUR][1000 genomes]
rs56733052	0.83[AMR][1000 genomes]
rs57258477	0.83[AMR][1000 genomes]
rs57724305	0.83[AMR][1000 genomes]
rs58255360	0.83[AMR][1000 genomes]
rs58643523	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59542747	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59580785	0.83[AMR][1000 genomes]
rs5997540	0.83[AMR][1000 genomes]
rs5997565	0.83[AMR][1000 genomes]
rs6006297	0.83[AMR][1000 genomes]
rs6006299	0.83[AMR][1000 genomes]
rs6006301	0.83[AMR][1000 genomes]
rs6006309	0.83[AMR][1000 genomes]
rs6006317	0.83[AMR][1000 genomes]
rs6006318	0.83[AMR][1000 genomes]
rs6006331	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60245742	0.83[AMR][1000 genomes]
rs60964812	0.83[AMR][1000 genomes]
rs61043203	0.83[AMR][1000 genomes]
rs61191536	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61540772	0.83[AMR][1000 genomes]
rs7286724	1.00[EUR][1000 genomes]
rs7290848	1.00[EUR][1000 genomes]
rs73394842	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394851	0.83[AMR][1000 genomes]
rs73394860	0.83[AMR][1000 genomes]
rs73394861	0.83[AMR][1000 genomes]
rs73394863	0.83[AMR][1000 genomes]
rs73394876	0.83[AMR][1000 genomes]
rs73396842	0.83[AMR][1000 genomes]
rs73396845	0.83[AMR][1000 genomes]
rs73398604	0.83[AMR][1000 genomes]
rs73398637	0.83[AMR][1000 genomes]
rs73398640	0.83[AMR][1000 genomes]
rs73398663	0.83[AMR][1000 genomes]
rs73400633	0.83[AMR][1000 genomes]
rs73400648	0.83[AMR][1000 genomes]
rs73400675	0.83[AMR][1000 genomes]
rs73400689	0.83[AMR][1000 genomes]
rs73402619	0.83[AMR][1000 genomes]
rs73402627	0.83[AMR][1000 genomes]
rs73402640	0.83[AMR][1000 genomes]
rs73402644	0.83[AMR][1000 genomes]
rs73402647	0.83[AMR][1000 genomes]
rs73402653	0.83[AMR][1000 genomes]
rs73402667	0.83[AMR][1000 genomes]
rs9620930	1.00[EUR][1000 genomes]
rs9620939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625869	1.00[EUR][1000 genomes]
rs9625890	1.00[EUR][1000 genomes]
rs9625903	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625907	1.00[EUR][1000 genomes]
rs9625929	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach
4	chr22:30419600-30434400	Weak transcription	Small Intestine	intestine
5	chr22:30422400-30434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:30422400-30434200	Weak transcription	HUVEC	blood vessel
7	chr22:30423000-30432600	Weak transcription	NH-A	brain
8	chr22:30423400-30432400	Weak transcription	Stomach Mucosa	stomach
9	chr22:30423400-30434400	Weak transcription	A549	lung
10	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:30424200-30434000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:30424600-30432600	Weak transcription	HMEC	breast
13	chr22:30424600-30435600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:30424800-30432400	Weak transcription	Colonic Mucosa	Colon
15	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:30425000-30434200	Weak transcription	Gastric	stomach
17	chr22:30425200-30432400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:30425200-30432400	Weak transcription	HSMMtube	muscle
19	chr22:30425200-30434000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:30425200-30434200	Weak transcription	Pancreas	Pancrea
21	chr22:30425200-30434200	Weak transcription	NHLF	lung
22	chr22:30425200-30435800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:30425200-30438800	Weak transcription	Fetal Intestine Large	intestine
24	chr22:30425200-30440000	Weak transcription	Fetal Lung	lung
25	chr22:30425200-30440200	Weak transcription	Brain Germinal Matrix	brain
26	chr22:30425400-30432200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:30425400-30432400	Weak transcription	NHEK	skin
28	chr22:30425400-30432400	Weak transcription	Osteobl	bone
29	chr22:30425600-30439400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr22:30425800-30432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:30425800-30433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:30425800-30433800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:30425800-30434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:30425800-30434800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr22:30425800-30435400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr22:30425800-30439800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
38	chr22:30426000-30432400	Weak transcription	HSMM	muscle
39	chr22:30426000-30434400	Weak transcription	Left Ventricle	heart
40	chr22:30426200-30432400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:30426200-30434000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:30426200-30434200	Weak transcription	Lung	lung
43	chr22:30426400-30431800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:30426600-30443000	Weak transcription	Thymus	Thymus
45	chr22:30427200-30432400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30427400-30431800	Weak transcription	Placenta	Placenta
47	chr22:30427600-30432600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr22:30429200-30434200	Weak transcription	Psoas Muscle	Psoas
49	chr22:30429400-30439800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:30429800-30433000	Weak transcription	Ovary	ovary

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