Variant report

Variant	rs73721283
Chromosome Location	chr7:127669059-127669060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127666110..127669340-chr7:127673259..127677722,5	K562	blood:
2	chr7:127663588..127667936-chr7:127668041..127670204,3	MCF-7	breast:
3	chr7:127663984..127666061-chr7:127666867..127669252,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55673039	1.00[AMR][1000 genomes]
rs55997549	1.00[AMR][1000 genomes]
rs57683992	1.00[AMR][1000 genomes]
rs57866092	1.00[AMR][1000 genomes]
rs60776739	1.00[AMR][1000 genomes]
rs60865612	1.00[AMR][1000 genomes]
rs61180975	1.00[AMR][1000 genomes]
rs73721003	1.00[AMR][1000 genomes]
rs73721262	1.00[AMR][1000 genomes]
rs73721275	1.00[AMR][1000 genomes]
rs73721276	1.00[AMR][1000 genomes]
rs73721277	1.00[AMR][1000 genomes]
rs73721280	1.00[AMR][1000 genomes]
rs73721281	1.00[AMR][1000 genomes]
rs73721284	1.00[AMR][1000 genomes]
rs73721285	1.00[AMR][1000 genomes]
rs73721286	1.00[AMR][1000 genomes]
rs73721287	1.00[AMR][1000 genomes]
rs73721288	1.00[AMR][1000 genomes]
rs73723071	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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
2	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:127657800-127669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:127658800-127669600	Weak transcription	Stomach Mucosa	stomach
11	chr7:127661200-127670400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:127661600-127670200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:127661600-127670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:127663000-127669200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:127663200-127671200	Weak transcription	NHLF	lung
16	chr7:127663200-127671400	Weak transcription	NHDF-Ad	bronchial
17	chr7:127663400-127669200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:127663400-127669200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:127663600-127670800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:127664200-127670600	Enhancers	Adipose Nuclei	Adipose
21	chr7:127664800-127669600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:127666000-127670400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:127666000-127670800	Weak transcription	HMEC	breast
24	chr7:127666000-127670800	Weak transcription	Osteobl	bone
25	chr7:127666200-127672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:127666600-127670400	Weak transcription	HUVEC	blood vessel
27	chr7:127666600-127670600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:127666800-127669200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:127666800-127670600	Weak transcription	Psoas Muscle	Psoas
30	chr7:127666800-127670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:127667000-127669200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:127668000-127669200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:127668000-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:127668000-127669400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:127668200-127669200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:127668200-127669200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:127668200-127669200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:127668200-127669200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:127668200-127669200	Weak transcription	Brain Substantia Nigra	brain
40	chr7:127668200-127669200	Weak transcription	Fetal Lung	lung
41	chr7:127668200-127669400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:127668200-127669600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:127668200-127669600	Genic enhancers	HSMM	muscle
44	chr7:127668200-127670000	Weak transcription	Primary B cells from cord blood	blood
45	chr7:127668200-127670600	Weak transcription	Fetal Kidney	kidney
46	chr7:127668200-127670600	Weak transcription	NH-A	brain
47	chr7:127668200-127670800	Weak transcription	HSMMtube	muscle
48	chr7:127668200-127672200	Weak transcription	Fetal Heart	heart
49	chr7:127668400-127670600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:127668600-127669400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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