Variant report

Variant	rs73077801
Chromosome Location	chr1:212838594-212838595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212781960..212786594-chr1:212837699..212841392,5	K562	blood:
2	chr1:212838502..212841362-chr20:55203158..55204974,2	MCF-7	breast:
3	chr1:212785851..212789357-chr1:212837777..212840991,5	K562	blood:
4	chr1:212836810..212838698-chr1:212893366..212895753,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000264590	Chromatin interaction
ENSG00000087510	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11571524	1.00[AMR][1000 genomes]
rs11571533	1.00[AMR][1000 genomes]
rs11571535	1.00[AMR][1000 genomes]
rs11571558	1.00[AMR][1000 genomes]
rs3001261	1.00[AMR][1000 genomes]
rs58103452	1.00[AMR][1000 genomes]
rs58411510	1.00[AMR][1000 genomes]
rs60028272	1.00[AMR][1000 genomes]
rs61531628	1.00[AMR][1000 genomes]
rs73075890	1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	1.00[AMR][1000 genomes]
rs73077743	1.00[AMR][1000 genomes]
rs73077745	1.00[AMR][1000 genomes]
rs73077750	1.00[AMR][1000 genomes]
rs73077752	1.00[AMR][1000 genomes]
rs73077765	1.00[AMR][1000 genomes]
rs73077787	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73079819	1.00[AMR][1000 genomes]
rs73079839	1.00[AMR][1000 genomes]
rs73079842	1.00[AMR][1000 genomes]
rs73079854	1.00[AMR][1000 genomes]
rs73079874	1.00[AMR][1000 genomes]
rs73079900	1.00[AMR][1000 genomes]
rs73081820	1.00[AMR][1000 genomes]
rs73081821	1.00[AMR][1000 genomes]
rs73081838	1.00[AMR][1000 genomes]
rs73081848	1.00[AMR][1000 genomes]
rs73081859	1.00[AMR][1000 genomes]
rs73081865	1.00[AMR][1000 genomes]
rs73081874	1.00[AMR][1000 genomes]
rs73081896	1.00[AMR][1000 genomes]
rs73083716	1.00[AMR][1000 genomes]
rs73083720	1.00[AMR][1000 genomes]
rs73083723	1.00[AMR][1000 genomes]
rs73088535	1.00[AMR][1000 genomes]
rs73088538	1.00[AMR][1000 genomes]
rs73088542	1.00[AMR][1000 genomes]
rs73088546	1.00[AMR][1000 genomes]
rs73090557	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
7	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212820400-212838600	Weak transcription	Lung	lung
2	chr1:212824200-212838600	Weak transcription	Spleen	Spleen
3	chr1:212829800-212838800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:212832200-212838800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:212837800-212838600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:212837800-212838600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:212838000-212838600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:212838000-212838600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:212838200-212838600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:212838200-212838600	Enhancers	Fetal Intestine Large	intestine
11	chr1:212838200-212838800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:212838400-212838600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212838400-212838600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr1:212838400-212838600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:212838400-212838600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:212838400-212838600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:212838400-212838600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:212838400-212838600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:212838400-212838600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:212838400-212838600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:212838400-212838600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:212838400-212838600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:212838400-212838600	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:212838400-212838600	Enhancers	Fetal Thymus	thymus
25	chr1:212838400-212838600	Enhancers	Pancreas	Pancrea
26	chr1:212838400-212838600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:212838400-212838600	Enhancers	HepG2	liver
28	chr1:212838400-212838600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:212838400-212838800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr1:212838400-212838800	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:212838400-212838800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr1:212838400-212838800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:212838400-212838800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:212838400-212838800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:212838400-212838800	Enhancers	Brain Substantia Nigra	brain
36	chr1:212838400-212838800	Enhancers	Left Ventricle	heart
37	chr1:212838400-212838800	Genic enhancers	Right Atrium	heart
38	chr1:212838400-212839200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr1:212838400-212839200	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:212838400-212839400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:212838400-212839400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:212838400-212839400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:212838400-212839400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr1:212838400-212839400	Active TSS	Stomach Smooth Muscle	stomach

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