Variant report

Variant	rs12673981
Chromosome Location	chr7:70598104-70598105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11762382	0.80[ASN][1000 genomes]
rs12699002	0.80[ASN][1000 genomes]
rs57272424	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59565483	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60149264	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61741535	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460638	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6943597	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963065	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977976	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73706757	0.87[EUR][1000 genomes];0.87[ASN][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3406129	chr7:70595641-70598589	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3377653	chr7:70596541-70599389	Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	1 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	chr7:70595800-70598600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:70595800-70598800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:70595800-70598800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr7:70596000-70598200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:70596000-70598200	Active TSS	Psoas Muscle	Psoas
9	chr7:70596000-70598400	Active TSS	Aorta	Aorta
10	chr7:70596000-70598400	Active TSS	Colon Smooth Muscle	Colon
11	chr7:70596000-70598400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
12	chr7:70596000-70598400	Active TSS	Fetal Kidney	kidney
13	chr7:70596000-70598600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:70596000-70598600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:70596000-70598600	Active TSS	Ovary	ovary
16	chr7:70596000-70598600	Active TSS	Right Atrium	heart
17	chr7:70596000-70598800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr7:70596000-70598800	Active TSS	Rectal Smooth Muscle	rectum
19	chr7:70596000-70599000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr7:70596000-70599200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:70596000-70599200	Active TSS	Left Ventricle	heart
22	chr7:70596000-70599400	Active TSS	Brain Anterior Caudate	brain
23	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
24	chr7:70596200-70598200	Enhancers	Liver	Liver
25	chr7:70596200-70598200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:70596200-70598400	Bivalent/Poised TSS	Thymus	Thymus
27	chr7:70596200-70598600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:70596200-70599000	Active TSS	Esophagus	oesophagus
29	chr7:70596200-70599200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr7:70596400-70598200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
31	chr7:70596400-70598200	ZNF genes & repeats	Spleen	Spleen
32	chr7:70596400-70598600	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr7:70596600-70598200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:70596600-70598600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr7:70596800-70598200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
36	chr7:70596800-70599000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:70596800-70599400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr7:70597000-70598400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:70597000-70599000	Bivalent/Poised TSS	Lung	lung
40	chr7:70597200-70598600	Active TSS	Adipose Nuclei	Adipose
41	chr7:70597200-70598600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
42	chr7:70597400-70598200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:70597400-70598400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:70597400-70598400	Active TSS	Fetal Heart	heart
45	chr7:70597400-70598600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:70597400-70598600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:70597400-70598800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr7:70597400-70598800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr7:70597400-70599000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr7:70597400-70599000	Bivalent/Poised TSS	Fetal Lung	lung

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