Variant report

Variant	rs16904228
Chromosome Location	chr8:131271978-131271979
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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1030386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs11993716	0.85[ASN][1000 genomes]
rs12675936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12676014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12681590	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs13253189	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13256967	1.00[JPT][hapmap]
rs13269931	0.93[ASN][1000 genomes]
rs16904201	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904220	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2114197	0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs34387098	0.93[ASN][1000 genomes]
rs34857454	0.93[ASN][1000 genomes]
rs36004599	0.93[ASN][1000 genomes]
rs55815182	0.92[ASN][1000 genomes]
rs56086422	0.89[ASN][1000 genomes]
rs58012966	0.92[ASN][1000 genomes]
rs61558949	0.85[ASN][1000 genomes]
rs66488832	0.82[ASN][1000 genomes]
rs6986746	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7006658	0.85[ASN][1000 genomes]
rs7014715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs7017795	0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7018391	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs73425364	0.85[ASN][1000 genomes]
rs7822764	0.88[YRI][hapmap];0.85[ASN][1000 genomes]
rs7836536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7837833	0.82[CHB][hapmap]
rs897050	1.00[JPT][hapmap]
rs9942745	0.82[CHB][hapmap];1.00[JPT][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:97 , 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	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:131261200-131274400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:131261600-131275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:131261800-131276000	Weak transcription	K562	blood
11	chr8:131262200-131276200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:131263000-131275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:131263000-131276000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:131264400-131276200	Weak transcription	Fetal Heart	heart
15	chr8:131267000-131272200	Enhancers	HepG2	liver
16	chr8:131267600-131275800	Weak transcription	Primary T cells from cord blood	blood
17	chr8:131268400-131276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:131268600-131275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:131268600-131275400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:131268600-131275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:131268600-131275800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:131268800-131272400	Weak transcription	Fetal Stomach	stomach
25	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:131269400-131274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:131269400-131280000	Weak transcription	Fetal Lung	lung
29	chr8:131270000-131272000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:131270200-131274400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:131270200-131274600	Enhancers	NHDF-Ad	bronchial
32	chr8:131270400-131273000	Enhancers	Brain Substantia Nigra	brain
33	chr8:131270400-131273800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:131270400-131274000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:131270400-131274200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:131270400-131274800	Enhancers	HUVEC	blood vessel
37	chr8:131270400-131275200	Enhancers	NHLF	lung
38	chr8:131270600-131273600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:131270600-131274200	Enhancers	HSMMtube	muscle
40	chr8:131270600-131275200	Enhancers	NH-A	brain
41	chr8:131270600-131275400	Weak transcription	Spleen	Spleen
42	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:131270600-131291200	Weak transcription	Liver	Liver
44	chr8:131270800-131272200	Enhancers	Adipose Nuclei	Adipose
45	chr8:131270800-131272600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:131270800-131272600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:131270800-131272800	Weak transcription	Right Atrium	heart
48	chr8:131270800-131273000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:131270800-131273200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:131270800-131273600	Enhancers	Brain Germinal Matrix	brain

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