Variant report

Variant	rs7460119
Chromosome Location	chr8:1954237-1954238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1953398..1956111-chr8:1957370..1959528,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10088130	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098493	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10105508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10780156	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11785522	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11990435	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993699	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11997759	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12676812	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3087819	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4288423	0.81[EUR][1000 genomes]
rs4322044	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs4357331	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4410948	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4532639	0.85[EUR][1000 genomes]
rs4541975	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62478221	0.88[EUR][1000 genomes]
rs6558569	0.83[EUR][1000 genomes]
rs6558575	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6983226	0.88[EUR][1000 genomes]
rs7018066	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7386983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1019578	chr8:1926059-1965389	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1820032	chr8:1947938-1954464	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv1817590	chr8:1947938-1958001	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1949800-1956800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:1950000-1955200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:1950000-1955600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:1950400-1955200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:1950600-1954600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:1950600-1954600	Weak transcription	Brain Germinal Matrix	brain
7	chr8:1950600-1955000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:1950600-1957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:1950600-1958200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:1950800-1954600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:1950800-1954800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:1951000-1955800	Weak transcription	Colonic Mucosa	Colon
13	chr8:1951400-1955600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:1951600-1955200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:1951600-1955200	Weak transcription	Pancreas	Pancrea
16	chr8:1951600-1955400	Weak transcription	Fetal Brain Male	brain
17	chr8:1951600-1958800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:1952000-1955000	Weak transcription	Fetal Brain Female	brain
19	chr8:1952200-1956000	Enhancers	Brain Substantia Nigra	brain
20	chr8:1952600-1955200	Enhancers	HSMMtube	muscle
21	chr8:1952600-1955800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:1953200-1954400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr8:1953200-1954400	Enhancers	Liver	Liver
24	chr8:1953200-1955000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:1953400-1955000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:1953400-1955200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:1953600-1954400	Enhancers	Primary T cells from cord blood	blood
28	chr8:1953600-1954400	Flanking Active TSS	HSMM	muscle
29	chr8:1953600-1954600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr8:1953600-1954600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:1953600-1954600	Enhancers	Brain Anterior Caudate	brain
32	chr8:1953600-1955000	Active TSS	Primary B cells from cord blood	blood
33	chr8:1953600-1955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:1953600-1955000	Enhancers	Fetal Muscle Leg	muscle
35	chr8:1953600-1955200	Enhancers	Brain Cingulate Gyrus	brain
36	chr8:1953600-1955200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr8:1953600-1955400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr8:1953600-1956000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:1953800-1954600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:1953800-1954600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:1953800-1954800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:1953800-1955800	Weak transcription	Lung	lung
43	chr8:1954000-1954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:1954000-1954400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:1954000-1954400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:1954000-1954400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:1954000-1954400	Bivalent Enhancer	Fetal Stomach	stomach
48	chr8:1954000-1954400	Enhancers	Fetal Thymus	thymus
49	chr8:1954000-1954600	Weak transcription	Fetal Intestine Large	intestine
50	chr8:1954000-1955200	Weak transcription	Brain Hippocampus Middle	brain

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