Variant report

Variant	rs73390916
Chromosome Location	chr22:30004389-30004390
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29999342..30001478-chr22:30003978..30005588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186575	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6006202	1.00[AMR][1000 genomes]
rs60286359	1.00[AMR][1000 genomes]
rs73390933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390954	0.83[AMR][1000 genomes]
rs9625833	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv817417	chr22:29998464-30035142	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30000400-30026600	Weak transcription	Gastric	stomach
2	chr22:30001000-30004800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30001000-30013400	Weak transcription	Fetal Kidney	kidney
4	chr22:30001000-30019400	Weak transcription	Thymus	Thymus
5	chr22:30001200-30004600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30001200-30005400	Weak transcription	Aorta	Aorta
7	chr22:30001200-30006600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:30001200-30013800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:30001400-30004800	Weak transcription	Primary B cells from cord blood	blood
10	chr22:30001400-30005200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr22:30001400-30005800	Weak transcription	Fetal Intestine Large	intestine
12	chr22:30001400-30006600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr22:30001400-30013400	Weak transcription	Brain Angular Gyrus	brain
14	chr22:30001400-30013400	Weak transcription	Ovary	ovary
15	chr22:30001400-30013400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:30001400-30014000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:30001600-30005000	Weak transcription	K562	blood
18	chr22:30001600-30005400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:30001600-30006400	Weak transcription	Liver	Liver
20	chr22:30001600-30013400	Weak transcription	Fetal Lung	lung
21	chr22:30001600-30013600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr22:30002000-30004600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:30002000-30004800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:30002000-30005400	Weak transcription	Brain Germinal Matrix	brain
25	chr22:30002000-30005600	Enhancers	HUVEC	blood vessel
26	chr22:30002000-30006000	Weak transcription	Fetal Thymus	thymus
27	chr22:30002000-30006400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:30002000-30008400	Weak transcription	Hela-S3	cervix
29	chr22:30002000-30013400	Weak transcription	Small Intestine	intestine
30	chr22:30002000-30014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:30002000-30017600	Weak transcription	Primary T cells from cord blood	blood
32	chr22:30002200-30004800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr22:30002200-30013600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:30002400-30004800	Weak transcription	Right Ventricle	heart
35	chr22:30002400-30011200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr22:30002400-30011600	Weak transcription	NHLF	lung
37	chr22:30002400-30013000	Weak transcription	HMEC	breast
38	chr22:30002400-30013600	Weak transcription	HSMMtube	muscle
39	chr22:30002400-30013800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:30002600-30005000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:30002600-30005200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr22:30002600-30005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:30002600-30007200	Weak transcription	Fetal Intestine Small	intestine
44	chr22:30002600-30011200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:30002600-30013400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:30002600-30013400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:30002600-30013400	Weak transcription	Colon Smooth Muscle	Colon
48	chr22:30002600-30013400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr22:30002600-30013400	Weak transcription	HSMM	muscle
50	chr22:30002600-30014000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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