Variant report

Variant	rs16904232
Chromosome Location	chr8:131286911-131286912
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	chr8:131279813..131282288-chr8:131286775..131289036,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1426102	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1549454	0.87[CHD][hapmap]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904209	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904237	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904251	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]
rs16904252	0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs16904253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904261	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs16904263	1.00[CEU][hapmap];0.97[GIH][hapmap]
rs17210536	0.88[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs2045093	0.83[CHD][hapmap]
rs2303444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2305510	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs4363239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4629915	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4733774	0.83[CHD][hapmap]
rs7463951	1.00[YRI][hapmap]
rs749126	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16904232	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131270600-131291200	Weak transcription	Liver	Liver
4	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
6	chr8:131277000-131288200	Weak transcription	K562	blood
7	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
8	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
10	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
11	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:131281600-131287400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:131281800-131287600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:131281800-131288800	Weak transcription	GM12878-XiMat	blood
16	chr8:131282000-131287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:131282000-131288200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:131282000-131288600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:131282000-131288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:131282000-131288600	Weak transcription	Brain Angular Gyrus	brain
21	chr8:131282000-131288600	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:131282000-131288600	Weak transcription	Fetal Lung	lung
23	chr8:131282000-131289200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:131282000-131291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:131282000-131292200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:131282000-131292200	Weak transcription	HSMMtube	muscle
27	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:131282200-131287200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131282200-131288800	Weak transcription	Osteobl	bone
30	chr8:131282200-131289800	Weak transcription	HepG2	liver
31	chr8:131282200-131291000	Weak transcription	Small Intestine	intestine
32	chr8:131282400-131287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:131282400-131287200	Weak transcription	Fetal Heart	heart
34	chr8:131282400-131287400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:131282400-131287600	Weak transcription	Right Ventricle	heart
36	chr8:131282400-131288200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:131282400-131288400	Weak transcription	Fetal Stomach	stomach
38	chr8:131282400-131288600	Weak transcription	Adipose Nuclei	Adipose
39	chr8:131282400-131288800	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:131282400-131288800	Weak transcription	Lung	lung
41	chr8:131282400-131288800	Weak transcription	Psoas Muscle	Psoas
42	chr8:131282400-131289200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:131282400-131289200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:131282400-131314800	Weak transcription	Gastric	stomach
45	chr8:131282600-131288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:131282600-131288600	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:131283400-131287000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:131283400-131288800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:131283400-131289200	Weak transcription	Aorta	Aorta
50	chr8:131283400-131289800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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