Variant report

Variant	rs73883313
Chromosome Location	chr22:30178664-30178665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30178054..30179718-chr22:30181967..30184538,2	MCF-7	breast:
2	chr22:30177029..30179936-chr22:30193624..30196507,4	MCF-7	breast:
3	chr22:30165843..30167692-chr22:30176073..30180493,3	MCF-7	breast:
4	chr22:30162056..30165367-chr22:30175239..30179422,5	K562	blood:

Variant related genes	Relation type
ENSG00000100319	Chromatin interaction
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11549795	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988025	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs249394	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs249403	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28265	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36571	0.87[EUR][1000 genomes]
rs36575	0.87[EUR][1000 genomes]
rs36577	0.87[EUR][1000 genomes]
rs56332559	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57779751	0.96[EUR][1000 genomes]
rs58763525	0.96[EUR][1000 genomes]
rs7289803	0.87[EUR][1000 genomes]
rs7292013	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73392822	0.81[EUR][1000 genomes]
rs73392888	0.87[EUR][1000 genomes]
rs73883310	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73883312	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883320	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30164600-30183800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:30164600-30185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:30166600-30183800	Weak transcription	Aorta	Aorta
5	chr22:30166800-30182800	Weak transcription	Primary T cells from cord blood	blood
6	chr22:30166800-30183000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:30166800-30183400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30166800-30183800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:30166800-30184200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:30167000-30180400	Weak transcription	Fetal Brain Female	brain
12	chr22:30167000-30183400	Weak transcription	Primary B cells from cord blood	blood
13	chr22:30167000-30183600	Weak transcription	Dnd41	blood
14	chr22:30167200-30183000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr22:30167200-30183200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:30167200-30183200	Weak transcription	GM12878-XiMat	blood
17	chr22:30167200-30184000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr22:30167200-30184000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:30167200-30187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr22:30167400-30180400	Weak transcription	Fetal Lung	lung
21	chr22:30167400-30182800	Weak transcription	Fetal Thymus	thymus
22	chr22:30167400-30183000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:30167400-30183000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:30167400-30183200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:30167400-30183600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr22:30167400-30183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:30167400-30183800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:30167400-30185400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:30167600-30183000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr22:30168000-30182200	Weak transcription	Thymus	Thymus
31	chr22:30168800-30180200	Weak transcription	Fetal Stomach	stomach
32	chr22:30174400-30178800	Enhancers	HMEC	breast
33	chr22:30174600-30178800	Enhancers	Fetal Intestine Small	intestine
34	chr22:30174800-30178800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:30174800-30179400	Enhancers	Pancreas	Pancrea
36	chr22:30175000-30178800	Enhancers	Spleen	Spleen
37	chr22:30175200-30178800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:30175200-30178800	Enhancers	Fetal Muscle Trunk	muscle
39	chr22:30175400-30178800	Enhancers	Left Ventricle	heart
40	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
41	chr22:30175600-30179000	Enhancers	Psoas Muscle	Psoas
42	chr22:30176200-30178800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:30176200-30178800	Enhancers	Adipose Nuclei	Adipose
44	chr22:30176200-30178800	Enhancers	Duodenum Mucosa	Duodenum
45	chr22:30176200-30178800	Enhancers	NH-A	brain
46	chr22:30176200-30179000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr22:30176200-30179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:30176400-30178800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:30176400-30178800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:30176400-30179000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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