Variant report

Variant	rs16904251
Chromosome Location	chr8:131358215-131358216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131354832..131358250-chr8:131366944..131369534,3	MCF-7	breast:
2	chr8:131340170..131343751-chr8:131358170..131360964,3	MCF-7	breast:
3	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:
4	chr8:131352950..131355821-chr8:131357613..131359173,2	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1426102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16904209	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16904215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16904230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16904232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16904237	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16904261	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904263	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16904264	0.89[EUR][1000 genomes]
rs17210536	0.88[CEU][hapmap]
rs2303444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4363239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4629915	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463951	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16904251	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
5	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:131348600-131358800	Weak transcription	Gastric	stomach
8	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:131351600-131359000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:131353800-131367600	Weak transcription	Dnd41	blood
11	chr8:131354000-131358600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:131354200-131360000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:131354400-131358400	Weak transcription	Thymus	Thymus
14	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
15	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
17	chr8:131354600-131358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:131354600-131359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:131354800-131359400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:131354800-131359800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:131354800-131359800	Enhancers	Primary T cells from cord blood	blood
22	chr8:131354800-131361200	Weak transcription	Fetal Brain Female	brain
23	chr8:131354800-131363400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:131355000-131362400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:131355000-131365800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:131355200-131359600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:131355200-131361600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:131355200-131362400	Weak transcription	HepG2	liver
29	chr8:131355400-131360200	Weak transcription	Aorta	Aorta
30	chr8:131355400-131365200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:131355400-131369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131355600-131358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:131355600-131361800	Weak transcription	Pancreas	Pancrea
35	chr8:131355600-131364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
37	chr8:131355800-131359400	Weak transcription	Ovary	ovary
38	chr8:131355800-131362400	Genic enhancers	NHLF	lung
39	chr8:131356000-131358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:131356000-131358600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:131356000-131358600	Weak transcription	Osteobl	bone
42	chr8:131356000-131359000	Enhancers	K562	blood
43	chr8:131356000-131359400	Weak transcription	Fetal Stomach	stomach
44	chr8:131356000-131360200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:131356000-131361400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:131356200-131360000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:131356200-131361200	Weak transcription	Primary B cells from cord blood	blood
48	chr8:131356400-131358400	Weak transcription	HSMM	muscle
49	chr8:131356400-131360200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:131356400-131360200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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