Variant report

Variant	rs972319
Chromosome Location	chr1:168582564-168582565
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	chr1:168581005..168585342-chr1:168586418..168588531,4	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10918943	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419118	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140518	0.90[ASN][1000 genomes]
rs4656609	0.87[AFR][1000 genomes]
rs6427136	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7354990	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522999	0.90[ASN][1000 genomes]
rs761093	0.87[AFR][1000 genomes]
rs926524	0.87[AFR][1000 genomes]
rs988725	0.90[ASN][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	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv3443	chr1:168577582-168622305	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168569200-168582600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:168579000-168582600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:168579000-168590200	Weak transcription	Right Atrium	heart
4	chr1:168579200-168582800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:168579200-168583000	Weak transcription	Placenta	Placenta
6	chr1:168579200-168583400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:168579200-168583400	Weak transcription	Esophagus	oesophagus
8	chr1:168579600-168582600	Weak transcription	Right Ventricle	heart
9	chr1:168579600-168583000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:168579600-168583000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:168581000-168584800	Enhancers	Psoas Muscle	Psoas
12	chr1:168581600-168584000	Weak transcription	Lung	lung
13	chr1:168581800-168583600	Enhancers	Fetal Kidney	kidney
14	chr1:168581800-168584200	Enhancers	Fetal Stomach	stomach
15	chr1:168581800-168584400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:168582000-168582800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:168582000-168583400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:168582000-168583800	Enhancers	Fetal Lung	lung
19	chr1:168582000-168585200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:168582200-168582600	Enhancers	Brain Hippocampus Middle	brain
21	chr1:168582200-168582600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:168582200-168582800	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:168582200-168583000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:168582200-168583400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:168582200-168583400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:168582200-168583600	Enhancers	Fetal Brain Male	brain
27	chr1:168582200-168583800	Enhancers	Brain Anterior Caudate	brain
28	chr1:168582200-168583800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:168582200-168583800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:168582200-168584400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:168582200-168584400	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:168582200-168584400	Enhancers	Left Ventricle	heart
33	chr1:168582200-168584600	Enhancers	Rectal Smooth Muscle	rectum
34	chr1:168582200-168584800	Enhancers	Ovary	ovary
35	chr1:168582400-168582600	Flanking Active TSS	Fetal Heart	heart
36	chr1:168582400-168582800	Enhancers	Aorta	Aorta
37	chr1:168582400-168582800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr1:168582400-168583000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:168582400-168583400	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr1:168582400-168583400	Enhancers	Brain Substantia Nigra	brain
41	chr1:168582400-168583600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:168582400-168583600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:168582400-168583600	Enhancers	HSMMtube	muscle
44	chr1:168582400-168583800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:168582400-168583800	Enhancers	Brain Angular Gyrus	brain
46	chr1:168582400-168583800	Enhancers	Fetal Intestine Small	intestine
47	chr1:168582400-168583800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr1:168582400-168583800	Enhancers	HSMM	muscle
49	chr1:168582400-168584200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:168582400-168584400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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