Variant report

Variant	rs73390970
Chromosome Location	chr22:30124780-30124781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30124714..30127862-chr22:30128538..30131492,3	K562	blood:
2	chr22:30123279..30125899-chr22:30126231..30128918,2	K562	blood:
3	chr22:30122754..30125379-chr22:30128810..30131334,3	MCF-7	breast:
4	chr22:30119899..30121884-chr22:30123778..30126684,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16987976	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987987	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56995766	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58255360	0.81[AFR][1000 genomes]
rs58538392	0.86[AFR][1000 genomes]
rs58959802	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390978	0.95[AFR][1000 genomes]
rs73391000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394821	0.81[AFR][1000 genomes]
rs73394863	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
10	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30115800-30126200	Weak transcription	Gastric	stomach
2	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
3	chr22:30117000-30137200	Weak transcription	HSMM	muscle
4	chr22:30117200-30126600	Weak transcription	Pancreas	Pancrea
5	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
6	chr22:30119000-30126400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:30121000-30125400	Weak transcription	Ovary	ovary
8	chr22:30121000-30126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr22:30121400-30126800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:30122000-30126800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr22:30122200-30126200	Weak transcription	Liver	Liver
12	chr22:30122400-30129400	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:30122600-30126000	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:30122800-30126600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:30122800-30126600	Weak transcription	Left Ventricle	heart
16	chr22:30123000-30125400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:30123000-30126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:30123000-30126200	Weak transcription	Thymus	Thymus
19	chr22:30123000-30126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:30123000-30126600	Weak transcription	Primary T cells from cord blood	blood
21	chr22:30123000-30129600	Weak transcription	Brain Angular Gyrus	brain
22	chr22:30123000-30135400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr22:30123200-30125000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:30123200-30125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:30123200-30125600	Weak transcription	Lung	lung
26	chr22:30123200-30126000	Weak transcription	Brain Anterior Caudate	brain
27	chr22:30123200-30126000	Weak transcription	Fetal Intestine Large	intestine
28	chr22:30123200-30126400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:30123200-30126400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:30123200-30126400	Weak transcription	Right Ventricle	heart
31	chr22:30123200-30126400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr22:30123200-30126600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:30123200-30126600	Weak transcription	Placenta	Placenta
34	chr22:30123200-30127000	Weak transcription	Esophagus	oesophagus
35	chr22:30123200-30128000	Weak transcription	K562	blood
36	chr22:30123200-30129200	Weak transcription	Fetal Brain Male	brain
37	chr22:30123200-30129600	Weak transcription	Colonic Mucosa	Colon
38	chr22:30123200-30130600	Weak transcription	NH-A	brain
39	chr22:30123200-30131800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:30123200-30135800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:30123200-30137600	Weak transcription	Osteobl	bone
42	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
43	chr22:30123400-30125000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:30123400-30126600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:30123400-30129400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:30123600-30126000	Weak transcription	Fetal Muscle Leg	muscle
47	chr22:30123600-30126400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr22:30123600-30126400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr22:30123600-30126600	Weak transcription	Adipose Nuclei	Adipose
50	chr22:30123600-30126600	Weak transcription	Monocytes-CD14+_RO01746	blood

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