Variant report

Variant	rs59496740
Chromosome Location	chr8:131270707-131270708
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	chr8:131263978..131265844-chr8:131269482..131272106,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs57129132	1.00[AFR][1000 genomes]
rs73409308	0.83[AFR][1000 genomes]
rs73409310	0.86[AFR][1000 genomes]
rs73409312	0.83[AFR][1000 genomes]
rs73409315	1.00[AFR][1000 genomes]
rs73409341	0.83[AFR][1000 genomes]
rs73409344	0.83[AFR][1000 genomes]
rs73409350	0.83[AFR][1000 genomes]
rs73417906	0.83[AFR][1000 genomes]
rs73417935	0.83[AFR][1000 genomes]
rs73417948	0.83[AFR][1000 genomes]
rs73417951	0.83[AFR][1000 genomes]
rs73425601	0.83[AFR][1000 genomes]
rs73427311	0.86[AFR][1000 genomes]
rs73427312	0.86[AFR][1000 genomes]
rs73427313	0.86[AFR][1000 genomes]
rs73427316	0.86[AFR][1000 genomes]
rs73427318	0.86[AFR][1000 genomes]
rs73427323	0.83[AFR][1000 genomes]
rs73427331	0.83[AFR][1000 genomes]
rs73427358	1.00[AFR][1000 genomes]
rs73427361	1.00[AFR][1000 genomes]
rs73427414	0.83[AFR][1000 genomes]
rs73427426	0.83[AFR][1000 genomes]
rs73427428	0.83[AFR][1000 genomes]
rs73427429	0.83[AFR][1000 genomes]
rs73427430	0.83[AFR][1000 genomes]
rs73427432	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
2	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:131257400-131281600	Weak transcription	Gastric	stomach
4	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
5	chr8:131260000-131275200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:131260600-131271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:131261200-131274400	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:131261400-131271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:131261600-131275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:131261800-131276000	Weak transcription	K562	blood
13	chr8:131262000-131271600	Weak transcription	Primary B cells from cord blood	blood
14	chr8:131262200-131270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:131262200-131276200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:131262800-131271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:131263000-131275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:131263000-131276000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:131263800-131270800	Weak transcription	Brain Germinal Matrix	brain
20	chr8:131264400-131276200	Weak transcription	Fetal Heart	heart
21	chr8:131264800-131271400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:131265600-131271000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:131265600-131271000	Weak transcription	HMEC	breast
24	chr8:131266400-131271400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:131267000-131272200	Enhancers	HepG2	liver
26	chr8:131267600-131275800	Weak transcription	Primary T cells from cord blood	blood
27	chr8:131267800-131271000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:131268200-131270800	Weak transcription	Adipose Nuclei	Adipose
29	chr8:131268400-131270800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:131268400-131271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:131268400-131276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
34	chr8:131268600-131270800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:131268600-131270800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:131268600-131271000	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:131268600-131271000	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:131268600-131271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:131268600-131271600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:131268600-131271600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:131268600-131271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:131268600-131271800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:131268600-131275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:131268600-131275400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:131268600-131275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:131268600-131275800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:131268800-131271000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131268800-131271400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:131268800-131272400	Weak transcription	Fetal Stomach	stomach
50	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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