Variant report

Variant	rs73127439
Chromosome Location	chr1:223998694-223998695
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223984690..223986233-chr1:223997368..223999252,2	MCF-7	breast:
2	chr1:223961408..223964143-chr1:223997434..223999357,2	K562	blood:
3	chr1:223998652..224000420-chr1:224020765..224022326,2	MCF-7	breast:
4	chr1:223989300..223992010-chr1:223998134..224001519,3	K562	blood:
5	chr1:223998011..224000838-chr1:224032342..224035250,3	K562	blood:
6	chr1:223996924..223999488-chr1:224013619..224016600,2	K562	blood:
7	chr1:223992025..223993711-chr1:223996774..223998979,2	K562	blood:
8	chr1:223997873..223999794-chr1:224029438..224032178,2	MCF-7	breast:
9	chr1:223998022..224000640-chr1:224001139..224002665,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12038706	1.00[AMR][1000 genomes]
rs16842157	1.00[AMR][1000 genomes]
rs16842168	1.00[AMR][1000 genomes]
rs16842198	1.00[AMR][1000 genomes]
rs28370148	1.00[AMR][1000 genomes]
rs28370168	1.00[AMR][1000 genomes]
rs28370180	1.00[AMR][1000 genomes]
rs28370183	1.00[AMR][1000 genomes]
rs56831338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57108544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57153784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58391315	1.00[AMR][1000 genomes]
rs59173114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60799191	0.94[AFR][1000 genomes]
rs60956486	1.00[AMR][1000 genomes]
rs73114404	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114482	1.00[AMR][1000 genomes]
rs73114500	1.00[AMR][1000 genomes]
rs73115632	1.00[AMR][1000 genomes]
rs73116433	1.00[AMR][1000 genomes]
rs73116444	1.00[AMR][1000 genomes]
rs73116448	1.00[AMR][1000 genomes]
rs73127419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73128039	1.00[AMR][1000 genomes]
rs73128040	1.00[AMR][1000 genomes]
rs73128044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131132	1.00[AMR][1000 genomes]
rs73131150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131164	0.94[AFR][1000 genomes];1.00[AMR][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:223976800-224003000	Weak transcription	Fetal Heart	heart
8	chr1:223979000-224000800	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:223979200-224002200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:223979400-224002600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:223979600-224002400	Strong transcription	Dnd41	blood
12	chr1:223981800-224002600	Weak transcription	Stomach Mucosa	stomach
13	chr1:223982800-224002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:223984200-223999400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:223984200-224003000	Strong transcription	K562	blood
16	chr1:223985400-224004000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:223988200-224000800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:223988600-224000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:223990600-224007000	Weak transcription	Fetal Brain Male	brain
21	chr1:223991000-224004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:223991200-223999800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:223991200-223999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:223991200-223999800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:223991200-223999800	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:223991200-223999800	Weak transcription	Esophagus	oesophagus
27	chr1:223991200-223999800	Weak transcription	NHEK	skin
28	chr1:223991200-224000000	Weak transcription	Gastric	stomach
29	chr1:223991200-224000600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:223991200-224000600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:223991200-224000800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:223991200-224000800	Weak transcription	Fetal Kidney	kidney
33	chr1:223991200-224000800	Weak transcription	Pancreas	Pancrea
34	chr1:223991200-224007400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:223991200-224007400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:223991200-224010800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:223991400-223999200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:223991400-223999800	Weak transcription	Right Ventricle	heart
39	chr1:223991400-224007600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:223991800-224001200	Weak transcription	Small Intestine	intestine
41	chr1:223992000-223999800	Weak transcription	Thymus	Thymus
42	chr1:223992200-224000600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:223992200-224000800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:223992400-224000800	Weak transcription	HepG2	liver
45	chr1:223993400-224008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:223993800-223999800	Weak transcription	Aorta	Aorta
47	chr1:223993800-224000200	Weak transcription	Spleen	Spleen
48	chr1:223994000-223999000	Weak transcription	Placenta	Placenta
49	chr1:223994000-224000200	Weak transcription	Left Ventricle	heart
50	chr1:223994000-224000600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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