Variant report

Variant	rs73001080
Chromosome Location	chr1:155786351-155786352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155779007..155780786-chr1:155785874..155788055,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs35542631	1.00[AMR][1000 genomes]
rs57110733	1.00[AMR][1000 genomes]
rs57692591	1.00[AMR][1000 genomes]
rs57875392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59071816	1.00[AMR][1000 genomes]
rs59293055	1.00[AMR][1000 genomes]
rs59322867	1.00[AMR][1000 genomes]
rs60243295	1.00[AMR][1000 genomes]
rs60291493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61290992	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61317108	1.00[AMR][1000 genomes]
rs6689656	1.00[AMR][1000 genomes]
rs6689779	1.00[AFR][1000 genomes]
rs72999071	1.00[AMR][1000 genomes]
rs72999073	1.00[AMR][1000 genomes]
rs72999076	1.00[AMR][1000 genomes]
rs73001016	1.00[AMR][1000 genomes]
rs73001054	1.00[AMR][1000 genomes]
rs73001081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002930	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004969	1.00[AMR][1000 genomes]
rs7516232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553076	1.00[AMR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
5	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
9	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
10	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
11	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
15	chr1:155771400-155798400	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:155771600-155798200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:155772000-155798000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:155773800-155787200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:155774400-155787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:155775000-155795600	Weak transcription	Small Intestine	intestine
21	chr1:155776000-155796600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:155777000-155787200	Weak transcription	Pancreas	Pancrea
23	chr1:155777000-155787400	Weak transcription	Gastric	stomach
24	chr1:155777000-155787400	Weak transcription	Spleen	Spleen
25	chr1:155777200-155795800	Weak transcription	Aorta	Aorta
26	chr1:155778000-155797200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:155778200-155795400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:155778600-155787200	Weak transcription	HSMMtube	muscle
29	chr1:155779600-155797600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:155780000-155797800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:155780000-155798000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:155780200-155796400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:155780200-155796800	Strong transcription	Osteobl	bone
34	chr1:155780200-155797600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:155780400-155791400	Strong transcription	Liver	Liver
36	chr1:155780400-155793800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:155780400-155796800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:155780400-155797400	Strong transcription	Adipose Nuclei	Adipose
39	chr1:155780400-155797600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:155780400-155797600	Strong transcription	Dnd41	blood
41	chr1:155780400-155797600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:155780400-155797800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:155780400-155798200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:155780600-155786800	Strong transcription	GM12878-XiMat	blood
45	chr1:155780600-155794200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:155780600-155796000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:155780600-155796400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:155780600-155796800	Strong transcription	Primary T cells from cord blood	blood
49	chr1:155780600-155797000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:155780600-155797200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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