Variant report

Variant	rs60573683
Chromosome Location	chr22:30279659-30279660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30229506..30231085-chr22:30279535..30281040,2	MCF-7	breast:
2	chr22:30208243..30210090-chr22:30279066..30280884,2	MCF-7	breast:
3	chr22:30277721..30280339-chr22:30399364..30402748,3	K562	blood:
4	chr10:62193967..62194535-chr22:30279507..30280085,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs2051858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2051859	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107673	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2158535	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56822704	0.87[AFR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57349783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57561197	1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	1.00[AMR][1000 genomes]
rs58564057	0.89[AFR][1000 genomes]
rs58906954	1.00[AMR][1000 genomes]
rs59632146	1.00[AMR][1000 genomes]
rs59732153	1.00[AMR][1000 genomes]
rs6006286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093195	0.89[AFR][1000 genomes]
rs60098050	0.96[AFR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60613378	1.00[AMR][1000 genomes]
rs60751132	0.86[AFR][1000 genomes]
rs61310283	1.00[AMR][1000 genomes]
rs7291683	0.89[AFR][1000 genomes]
rs73390962	1.00[AMR][1000 genomes]
rs73390967	1.00[AMR][1000 genomes]
rs73390968	1.00[AMR][1000 genomes]
rs73392820	1.00[AMR][1000 genomes]
rs73392847	1.00[AMR][1000 genomes]
rs73392870	1.00[AMR][1000 genomes]
rs73392874	1.00[AMR][1000 genomes]
rs73392878	1.00[AMR][1000 genomes]
rs73392892	1.00[AMR][1000 genomes]
rs73392894	1.00[AMR][1000 genomes]
rs73394839	1.00[AMR][1000 genomes]
rs73394864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394865	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394881	1.00[AFR][1000 genomes]
rs73394884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394890	1.00[AMR][1000 genomes]
rs73394892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396818	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396822	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396823	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396830	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396831	0.88[AFR][1000 genomes]
rs73396841	0.89[AFR][1000 genomes]
rs73396843	0.96[AFR][1000 genomes]
rs73396848	0.87[AFR][1000 genomes]
rs73396856	0.96[AFR][1000 genomes]
rs73396863	0.89[AFR][1000 genomes]
rs73396872	0.87[AFR][1000 genomes]
rs73396885	0.96[AFR][1000 genomes]
rs73396896	0.96[AFR][1000 genomes]
rs73396902	0.93[AFR][1000 genomes]
rs73398629	0.89[AFR][1000 genomes]
rs73398630	0.87[AFR][1000 genomes]
rs73398647	0.83[AFR][1000 genomes]
rs73398654	0.92[AFR][1000 genomes]
rs73398659	0.92[AFR][1000 genomes]
rs73398662	0.92[AFR][1000 genomes]
rs73398664	0.92[AFR][1000 genomes]
rs73398683	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
3	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
4	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30278600-30279800	Active TSS	Primary T cells from cord blood	blood
2	chr22:30278600-30279800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:30278600-30280000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:30278600-30280200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:30278600-30280400	Active TSS	Fetal Kidney	kidney
6	chr22:30278600-30280600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr22:30278600-30280600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:30278600-30280600	Active TSS	Fetal Brain Female	brain
9	chr22:30278600-30281400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr22:30278800-30279800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:30278800-30279800	Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr22:30278800-30279800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30278800-30280000	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr22:30278800-30280000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:30278800-30280000	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr22:30278800-30280000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr22:30278800-30280000	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr22:30278800-30280000	Active TSS	Muscle Satellite Cultured Cells	--
19	chr22:30278800-30280000	Active TSS	Brain Cingulate Gyrus	brain
20	chr22:30278800-30280000	Active TSS	Fetal Lung	lung
21	chr22:30278800-30280000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr22:30278800-30280000	Active TSS	Rectal Smooth Muscle	rectum
23	chr22:30278800-30280000	Active TSS	NH-A	brain
24	chr22:30278800-30280200	Active TSS	Primary hematopoietic stem cells	blood
25	chr22:30278800-30280200	Active TSS	Colon Smooth Muscle	Colon
26	chr22:30278800-30280200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr22:30278800-30280200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr22:30278800-30280200	Active TSS	Fetal Brain Male	brain
29	chr22:30278800-30280200	Active TSS	Left Ventricle	heart
30	chr22:30278800-30280200	Active TSS	NHEK	skin
31	chr22:30278800-30280400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr22:30278800-30280400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:30278800-30280400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr22:30278800-30280400	Active TSS	Brain Angular Gyrus	brain
35	chr22:30278800-30280400	Active TSS	Brain Hippocampus Middle	brain
36	chr22:30278800-30280400	Active TSS	Fetal Intestine Large	intestine
37	chr22:30278800-30280400	Active TSS	Fetal Stomach	stomach
38	chr22:30278800-30280400	Active TSS	Fetal Thymus	thymus
39	chr22:30278800-30280400	Active TSS	Ovary	ovary
40	chr22:30278800-30280400	Active TSS	Thymus	Thymus
41	chr22:30278800-30280400	Active TSS	A549	lung
42	chr22:30278800-30280400	Active TSS	K562	blood
43	chr22:30278800-30280600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr22:30278800-30280600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:30278800-30280600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:30278800-30280600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr22:30278800-30280600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr22:30278800-30280600	Active TSS	Brain Substantia Nigra	brain
49	chr22:30278800-30280600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr22:30278800-30280600	Active TSS	Fetal Muscle Trunk	muscle

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