Variant report

Variant	rs8066399
Chromosome Location	chr17:37799572-37799573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37797027..37799881-chr17:37822544..37824543,2	K562	blood:
2	chr17:37793922..37796197-chr17:37796263..37800246,4	MCF-7	breast:
3	chr17:37792483..37795684-chr17:37797651..37799994,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131748	Chromatin interaction
ENSG00000141744	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12937003	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942857	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12943875	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1874224	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2055859	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2132140	0.84[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33932099	0.88[AFR][1000 genomes]
rs34130088	0.84[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs34445181	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34894549	0.82[ASW][hapmap]
rs34963535	1.00[EUR][1000 genomes]
rs4252630	0.82[ASW][hapmap]
rs57837184	1.00[EUR][1000 genomes]
rs59438000	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67615144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68087665	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73308326	1.00[EUR][1000 genomes]
rs7503843	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8075130	0.84[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8075931	0.84[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
12	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37794200-37800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:37794200-37801000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:37794400-37800000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:37794600-37801400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:37794600-37801600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:37794600-37801600	Enhancers	Right Ventricle	heart
7	chr17:37794600-37801800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr17:37794800-37799800	Enhancers	Liver	Liver
9	chr17:37794800-37800000	Enhancers	Adipose Nuclei	Adipose
10	chr17:37794800-37800400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:37794800-37800600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:37794800-37800800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr17:37794800-37801200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:37795000-37799600	Weak transcription	A549	lung
15	chr17:37795000-37799800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:37795000-37800800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr17:37795000-37800800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr17:37795000-37814000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:37795200-37799600	Enhancers	K562	blood
21	chr17:37795200-37799800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr17:37795200-37800000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:37795200-37800200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr17:37795200-37800600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr17:37795200-37801200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr17:37795200-37814000	Weak transcription	Aorta	Aorta
27	chr17:37795200-37814600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:37795400-37818000	Weak transcription	Fetal Kidney	kidney
29	chr17:37795600-37800400	Enhancers	Pancreas	Pancrea
30	chr17:37795600-37808600	Weak transcription	Fetal Lung	lung
31	chr17:37795800-37800800	Enhancers	Left Ventricle	heart
32	chr17:37796000-37801400	Enhancers	Right Atrium	heart
33	chr17:37796000-37803600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:37796200-37808000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:37796200-37808600	Strong transcription	Fetal Stomach	stomach
36	chr17:37796400-37799600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:37796400-37799600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr17:37796400-37800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:37796400-37801200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:37796400-37810000	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:37796400-37810800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:37796600-37799800	Weak transcription	Brain Angular Gyrus	brain
43	chr17:37796600-37800200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:37796600-37800200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:37796600-37800600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:37796600-37801000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr17:37796600-37803400	Weak transcription	Thymus	Thymus
48	chr17:37796600-37807200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr17:37796600-37807200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr17:37796600-37807200	Weak transcription	Brain Substantia Nigra	brain

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