Variant report

Variant	rs7017795
Chromosome Location	chr8:131213279-131213280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131207362..131209756-chr8:131210863..131213512,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1030386	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11993716	0.86[ASN][1000 genomes]
rs12675936	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12676014	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681590	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs13253189	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs13256967	1.00[JPT][hapmap]
rs16904201	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap]
rs16904220	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904228	0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2114197	0.85[CEU][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55815182	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61558949	0.86[ASN][1000 genomes]
rs6986746	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7006658	0.86[ASN][1000 genomes]
rs7014715	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018391	0.85[JPT][hapmap]
rs73425364	0.85[ASN][1000 genomes]
rs7822764	0.85[CEU][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs7836536	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897050	0.85[JPT][hapmap]
rs9942745	0.85[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7017795	ASAP1	cis	intralobular white matter	BrainEAC

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
2	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
3	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
4	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:131199200-131216800	Weak transcription	Stomach Mucosa	stomach
6	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
7	chr8:131200600-131215600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:131200600-131218400	Weak transcription	HepG2	liver
9	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
11	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
12	chr8:131205200-131215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:131206200-131213400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:131207200-131215600	Weak transcription	Lung	lung
15	chr8:131207800-131218400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:131208200-131214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:131208400-131214200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:131208400-131215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:131209000-131218600	Weak transcription	Fetal Kidney	kidney
20	chr8:131209000-131224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:131209200-131216600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
23	chr8:131209800-131213400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:131210000-131215400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:131210000-131216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131210000-131219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:131210000-131250400	Weak transcription	Gastric	stomach
28	chr8:131210200-131213400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:131210200-131213400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:131210200-131225000	Weak transcription	Fetal Stomach	stomach
31	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
32	chr8:131210600-131213400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:131210800-131213400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr8:131210800-131215600	Enhancers	Primary T cells from cord blood	blood
35	chr8:131211000-131213400	Enhancers	Adipose Nuclei	Adipose
36	chr8:131211000-131213600	Enhancers	Right Atrium	heart
37	chr8:131211200-131213400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr8:131211200-131213400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:131211200-131213400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:131211200-131213600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:131211200-131215000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:131211200-131218800	Weak transcription	Fetal Intestine Small	intestine
43	chr8:131211400-131213400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:131211400-131213600	Enhancers	Colon Smooth Muscle	Colon
45	chr8:131211400-131215400	Weak transcription	A549	lung
46	chr8:131211400-131218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:131211400-131219600	Weak transcription	Brain Anterior Caudate	brain
48	chr8:131211400-131225600	Weak transcription	Fetal Heart	heart
49	chr8:131211600-131213600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:131211600-131213600	Enhancers	Muscle Satellite Cultured Cells	--

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