Variant report

Variant	rs73079809
Chromosome Location	chr1:212843910-212843911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212827941..212830244-chr1:212842971..212844475,2	K562	blood:
2	chr1:212843284..212846288-chr1:212848172..212851141,3	K562	blood:
3	chr1:212835945..212838280-chr1:212843427..212846300,4	K562	blood:
4	chr1:212842598..212844341-chr1:212963866..212965666,2	K562	blood:
5	chr1:212842539..212844164-chr1:212844628..212846404,2	K562	blood:
6	chr1:212780312..212781981-chr1:212842707..212844333,2	K562	blood:

Variant related genes	Relation type
ENSG00000203705	Chromatin interaction
ENSG00000117697	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11119992	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11119993	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11119996	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11120003	0.80[AMR][1000 genomes]
rs12068948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069714	0.83[AMR][1000 genomes]
rs12070621	0.91[AMR][1000 genomes]
rs12084844	0.83[AMR][1000 genomes]
rs58453080	0.91[AMR][1000 genomes]
rs60292092	0.83[AMR][1000 genomes]
rs73079814	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212839200-212845400	Enhancers	Placenta	Placenta
2	chr1:212839200-212845600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:212840400-212846400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:212841200-212844000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:212841400-212844000	Weak transcription	Brain Anterior Caudate	brain
6	chr1:212841400-212844000	Weak transcription	Fetal Thymus	thymus
7	chr1:212841400-212844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:212841400-212844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:212841400-212844600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:212841400-212844600	Weak transcription	Hela-S3	cervix
11	chr1:212841400-212844800	Weak transcription	Fetal Brain Male	brain
12	chr1:212841600-212844200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:212841600-212844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:212841800-212844200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:212841800-212844400	Weak transcription	HMEC	breast
16	chr1:212842000-212844000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:212842000-212844200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:212842000-212844600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:212842200-212844200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:212842200-212844200	Weak transcription	Spleen	Spleen
21	chr1:212842200-212844400	Weak transcription	NH-A	brain
22	chr1:212842200-212844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:212842200-212844600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:212842200-212844600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:212842200-212844600	Weak transcription	HSMMtube	muscle
26	chr1:212842200-212845600	Weak transcription	Right Atrium	heart
27	chr1:212842200-212854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:212842600-212844200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:212842600-212844200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:212842600-212844200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:212842600-212844200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:212842600-212844400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:212842600-212844400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:212842600-212844600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:212842600-212844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:212842600-212844800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:212842600-212844800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:212842800-212844000	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:212842800-212844200	Weak transcription	A549	lung
40	chr1:212842800-212844200	Weak transcription	HSMM	muscle
41	chr1:212842800-212844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:212842800-212844400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:212842800-212844600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:212842800-212844600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:212842800-212844600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:212842800-212844800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:212842800-212844800	Weak transcription	NHLF	lung
48	chr1:212843200-212844600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:212843200-212844600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:212843400-212844600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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