Variant report

Variant	rs16904230
Chromosome Location	chr8:131276836-131276837
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131276192..131278199-chr8:131282560..131285411,2	MCF-7	breast:
2	chr8:131276737..131278356-chr8:131369594..131371515,3	MCF-7	breast:
3	chr8:131274673..131277177-chr8:131288915..131291694,2	K562	blood:
4	chr8:131267673..131269776-chr8:131275129..131276905,2	K562	blood:

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];0.97[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1426102	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[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];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1549454	0.87[CHD][hapmap]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];0.89[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];0.89[EUR][1000 genomes]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[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];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904232	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];1.00[EUR][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16904237	1.00[ASW][hapmap];0.94[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];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904251	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]
rs16904252	0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs16904253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[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];0.95[GIH][hapmap]
rs17210536	0.88[CEU][hapmap];0.88[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];0.97[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];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305510	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.82[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];0.85[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];0.95[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
rs16904230	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:99 , 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	chr8:131257400-131281600	Weak transcription	Gastric	stomach
3	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131269400-131280000	Weak transcription	Fetal Lung	lung
8	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:131270600-131291200	Weak transcription	Liver	Liver
10	chr8:131270800-131278800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:131271000-131277000	Enhancers	HSMM	muscle
12	chr8:131271000-131279000	Enhancers	HMEC	breast
13	chr8:131271200-131278600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:131271400-131278600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:131272200-131277400	Weak transcription	GM12878-XiMat	blood
16	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
17	chr8:131272400-131281400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:131273000-131277000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:131273200-131278600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:131273800-131277600	Enhancers	Adipose Nuclei	Adipose
21	chr8:131274000-131278600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:131274600-131277800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:131274800-131277200	Enhancers	Fetal Stomach	stomach
24	chr8:131274800-131277600	Flanking Active TSS	A549	lung
25	chr8:131274800-131277800	Enhancers	Hela-S3	cervix
26	chr8:131274800-131278400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:131275000-131277400	Enhancers	Colon Smooth Muscle	Colon
28	chr8:131275000-131278600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:131275000-131278600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:131275000-131278600	Enhancers	HepG2	liver
31	chr8:131275200-131277200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr8:131275200-131277400	Enhancers	HSMMtube	muscle
33	chr8:131275200-131278600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:131275400-131277000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:131275400-131277400	Enhancers	Brain Cingulate Gyrus	brain
36	chr8:131275400-131277400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:131275400-131277400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:131275400-131278000	Enhancers	Small Intestine	intestine
39	chr8:131275400-131278200	Enhancers	Brain Anterior Caudate	brain
40	chr8:131275400-131278600	Enhancers	Left Ventricle	heart
41	chr8:131275400-131278600	Enhancers	Spleen	Spleen
42	chr8:131275400-131280600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:131275400-131281000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:131275600-131277400	Enhancers	Brain Hippocampus Middle	brain
46	chr8:131275600-131278600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:131275600-131280400	Enhancers	HUVEC	blood vessel
48	chr8:131275600-131281200	Enhancers	Osteobl	bone
49	chr8:131275600-131281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine

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