Variant report

Variant	rs59723881
Chromosome Location	chr7:120970612-120970613
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120969341..120972493-chr7:120983934..120987124,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10225647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232028	1.00[AMR][1000 genomes]
rs10237944	1.00[AMR][1000 genomes]
rs10248910	1.00[AMR][1000 genomes]
rs10270194	1.00[AMR][1000 genomes]
rs10274424	1.00[AMR][1000 genomes]
rs12111905	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12535821	1.00[AMR][1000 genomes]
rs13438018	1.00[AMR][1000 genomes]
rs17143353	1.00[AMR][1000 genomes]
rs17143357	1.00[AMR][1000 genomes]
rs28635533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2896303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56835233	1.00[AMR][1000 genomes]
rs57412322	1.00[AMR][1000 genomes]
rs6943177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944198	1.00[AMR][1000 genomes]
rs6944409	1.00[AMR][1000 genomes]
rs6960006	1.00[AMR][1000 genomes]
rs6975632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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 miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active 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	4 gene(s)	inside rSNPs	diseases
9	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120968600-120970800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr7:120968600-120970800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:120968600-120971000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:120968600-120971000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:120968800-120970800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:120968800-120971000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr7:120968800-120971000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:120968800-120971000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:120969000-120970800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:120969000-120970800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:120969000-120970800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:120969000-120970800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
13	chr7:120969000-120970800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
14	chr7:120969000-120970800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr7:120969000-120970800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr7:120969000-120971000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:120969000-120971000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:120969000-120971400	Bivalent/Poised TSS	NHDF-Ad	bronchial
19	chr7:120969200-120970800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:120969200-120970800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr7:120969200-120970800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:120969200-120970800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr7:120969200-120970800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr7:120969200-120970800	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr7:120969200-120970800	Bivalent/Poised TSS	A549	lung
26	chr7:120969200-120971200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:120969400-120970800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:120969400-120970800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr7:120969400-120970800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr7:120969400-120970800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr7:120969600-120970800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:120969600-120970800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:120969600-120970800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:120969600-120970800	Active TSS	Aorta	Aorta
35	chr7:120969600-120970800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
36	chr7:120969600-120970800	Flanking Active TSS	Ovary	ovary
37	chr7:120969600-120970800	Active TSS	Hela-S3	cervix
38	chr7:120969600-120970800	Bivalent/Poised TSS	HSMMtube	muscle
39	chr7:120969600-120970800	Flanking Bivalent TSS/Enh	Osteobl	bone
40	chr7:120969800-120970800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:120969800-120970800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:120969800-120970800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
43	chr7:120969800-120970800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr7:120969800-120970800	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr7:120969800-120971000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:120970000-120970800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:120970000-120970800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:120970000-120970800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr7:120970000-120970800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
50	chr7:120970000-120970800	Flanking Active TSS	Liver	Liver

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