Variant report

Variant	rs72685376
Chromosome Location	chr1:78458958-78458959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78454801..78460340-chr1:78465408..78471629,5	MCF-7	breast:
2	chr1:78454678..78456390-chr1:78458151..78460490,2	MCF-7	breast:
3	chr1:78443500..78446185-chr1:78458187..78461123,4	MCF-7	breast:
4	chr1:78456635..78459409-chr1:78576890..78579744,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000162613	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1325513	1.00[AFR][1000 genomes]
rs1408955	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2032056	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72685315	1.00[AFR][1000 genomes]
rs72685332	0.84[EUR][1000 genomes]
rs72685333	0.84[EUR][1000 genomes]
rs72685335	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72685338	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685344	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685346	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685349	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685355	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685362	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685366	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72685370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685391	0.82[AMR][1000 genomes]
rs72685398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72687103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72687112	1.00[AFR][1000 genomes]
rs72687124	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78446000-78461000	Weak transcription	Placenta	Placenta
2	chr1:78446200-78461200	Weak transcription	Fetal Stomach	stomach
3	chr1:78446200-78469600	Weak transcription	Thymus	Thymus
4	chr1:78446400-78469800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:78446400-78470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:78446600-78459200	Weak transcription	Fetal Brain Female	brain
7	chr1:78446600-78460800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:78446600-78461200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:78446600-78468000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:78446600-78468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:78446600-78468800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:78446600-78468800	Weak transcription	Adipose Nuclei	Adipose
13	chr1:78446600-78468800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:78446600-78469000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:78446600-78469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:78446600-78469000	Weak transcription	Fetal Kidney	kidney
17	chr1:78446600-78469600	Weak transcription	Aorta	Aorta
18	chr1:78446600-78469800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:78446600-78470200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:78446600-78470400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:78446800-78460000	Weak transcription	Brain Germinal Matrix	brain
22	chr1:78446800-78468000	Weak transcription	Fetal Lung	lung
23	chr1:78447000-78467800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:78447200-78459800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:78447200-78461000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:78447200-78463600	Weak transcription	Lung	lung
27	chr1:78447400-78465800	Weak transcription	Hela-S3	cervix
28	chr1:78447600-78469800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:78447600-78470200	Weak transcription	Fetal Brain Male	brain
30	chr1:78447800-78469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:78448000-78459600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:78448000-78467800	Weak transcription	Dnd41	blood
33	chr1:78448000-78467800	Weak transcription	HUVEC	blood vessel
34	chr1:78448000-78468800	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:78448600-78465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:78449800-78461000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:78450200-78459000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:78450200-78461200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:78450200-78469600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:78450200-78469600	Weak transcription	Fetal Intestine Large	intestine
42	chr1:78450600-78460600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:78451000-78459600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:78451000-78468400	Weak transcription	Brain Anterior Caudate	brain
45	chr1:78451800-78468400	Weak transcription	HSMMtube	muscle
46	chr1:78452200-78459800	Weak transcription	HSMM	muscle
47	chr1:78452200-78461000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:78452200-78465800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:78452400-78468800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:78452400-78468800	Weak transcription	Colon Smooth Muscle	Colon

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