Variant report

Variant	rs2033059
Chromosome Location	chr8:131271216-131271217
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: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1017281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10956511	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs10956514	1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1118887	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1123205	0.80[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs1158569	0.86[CHD][hapmap]
rs11774690	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11774947	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11775292	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12546206	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12548888	0.88[ASN][1000 genomes]
rs12549794	0.88[ASN][1000 genomes]
rs12677193	0.81[CHB][hapmap]
rs12680942	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258946	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1340021	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs1469288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1538728	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17212137	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs17284725	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17285138	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1978550	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2114196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2305513	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs2554374	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs2894508	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs34656350	0.98[ASN][1000 genomes]
rs3935174	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733571	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4733572	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733768	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733775	1.00[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs4733776	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733777	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733780	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4733781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524650	0.88[ASN][1000 genomes]
rs62525919	0.97[ASN][1000 genomes]
rs62525923	0.81[ASN][1000 genomes]
rs6470805	0.85[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs6470815	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6470816	0.89[CHD][hapmap]
rs6991975	0.81[CHB][hapmap]
rs7012705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7018225	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs72722365	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7464885	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7832651	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7834461	0.81[CHB][hapmap]
rs7837226	0.81[CHB][hapmap]
rs7839155	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[MKK][hapmap];0.81[ASN][1000 genomes]
rs876575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643252	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]

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:95 , 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	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:131261600-131275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:131261800-131276000	Weak transcription	K562	blood
12	chr8:131262000-131271600	Weak transcription	Primary B cells from cord blood	blood
13	chr8:131262200-131276200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:131262800-131271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:131263000-131275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:131263000-131276000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:131264400-131276200	Weak transcription	Fetal Heart	heart
18	chr8:131264800-131271400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:131266400-131271400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:131267000-131272200	Enhancers	HepG2	liver
21	chr8:131267600-131275800	Weak transcription	Primary T cells from cord blood	blood
22	chr8:131268400-131276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
25	chr8:131268600-131271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131268600-131271600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:131268600-131271600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:131268600-131271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:131268600-131271800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:131268600-131275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:131268600-131275400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:131268600-131275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:131268600-131275800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:131268800-131271400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:131268800-131272400	Weak transcription	Fetal Stomach	stomach
36	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:131269400-131274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:131269400-131280000	Weak transcription	Fetal Lung	lung
40	chr8:131270000-131272000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:131270200-131271400	Enhancers	Ovary	ovary
42	chr8:131270200-131274400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:131270200-131274600	Enhancers	NHDF-Ad	bronchial
44	chr8:131270400-131271800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:131270400-131271800	Enhancers	Aorta	Aorta
46	chr8:131270400-131271800	Enhancers	Stomach Smooth Muscle	stomach
47	chr8:131270400-131273000	Enhancers	Brain Substantia Nigra	brain
48	chr8:131270400-131273800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr8:131270400-131274000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:131270400-131274200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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