Variant report

Variant	rs8045682
Chromosome Location	chr16:69786092-69786093
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69785030..69792317-chr16:69794435..69797821,11	MCF-7	breast:
2	chr16:69757296..69762552-chr16:69785671..69789636,11	K562	blood:
3	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
4	chr16:69758127..69765240-chr16:69786072..69790209,13	K562	blood:
5	chr16:69784937..69786887-chr16:69796034..69797734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181019	Chromatin interaction
ENSG00000262136	Chromatin interaction
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10048108	0.84[EUR][1000 genomes]
rs10163235	0.84[EUR][1000 genomes]
rs10454066	1.00[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs10500551	1.00[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs10852458	1.00[CEU][hapmap]
rs11075728	1.00[CEU][hapmap]
rs11075733	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075734	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1139178	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11639947	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs11641233	1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap]
rs11641521	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11642030	1.00[CEU][hapmap]
rs11643926	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11644838	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11644914	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12232410	0.95[CEU][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs12446201	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12447883	0.82[EUR][1000 genomes]
rs12595869	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs12596679	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12596823	1.00[CEU][hapmap]
rs12925371	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1437135	1.00[CEU][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs16958970	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs16959025	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs16959035	0.83[EUR][1000 genomes]
rs1800566	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1865965	0.82[EUR][1000 genomes]
rs2196574	0.85[EUR][1000 genomes]
rs2361838	1.00[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs2361839	0.84[EUR][1000 genomes]
rs3169315	1.00[CEU][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap]
rs3743673	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3811349	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4078387	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4341733	0.81[ASW][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap]
rs4464069	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4497676	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4580150	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985418	0.82[MKK][hapmap]
rs4985518	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985523	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55701476	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55863174	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55992518	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56282083	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57488237	0.83[EUR][1000 genomes]
rs57518557	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57565297	0.82[EUR][1000 genomes]
rs59295369	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60231938	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61426398	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499253	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499255	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6499257	0.81[ASW][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap]
rs689455	0.85[EUR][1000 genomes]
rs7186002	0.85[EUR][1000 genomes]
rs7189424	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7196943	1.00[CEU][hapmap]
rs7198242	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs73579458	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73579497	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74029403	0.82[EUR][1000 genomes]
rs8046314	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8054096	0.82[EUR][1000 genomes]
rs8059345	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788837	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs9921045	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs9933526	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8045682	FAM96B	cis	parietal	SCAN
rs8045682	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs8045682	HPR	cis	cerebellum	SCAN
rs8045682	TPPP3	cis	parietal	SCAN
rs8045682	HPR	cis	parietal	SCAN
rs8045682	SLC7A6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69761800-69787400	Weak transcription	Right Atrium	heart
2	chr16:69770400-69788000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:69771800-69786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:69772600-69786400	Strong transcription	Fetal Stomach	stomach
5	chr16:69772800-69786400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:69773000-69786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:69773000-69786200	Strong transcription	Fetal Brain Female	brain
8	chr16:69773000-69786200	Strong transcription	Dnd41	blood
9	chr16:69773000-69786400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:69773000-69786600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:69773000-69786600	Strong transcription	Fetal Thymus	thymus
12	chr16:69773000-69786800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:69773000-69787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:69773000-69787000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:69773000-69787000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:69773000-69787000	Strong transcription	Fetal Muscle Leg	muscle
17	chr16:69773000-69787200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:69773200-69786800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:69773400-69786200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:69773600-69786400	Strong transcription	K562	blood
21	chr16:69773800-69786200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr16:69773800-69786200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:69773800-69786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:69773800-69786400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr16:69773800-69786600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:69773800-69786600	Strong transcription	HSMM	muscle
27	chr16:69773800-69786800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:69774000-69786200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr16:69774000-69786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:69774000-69786200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr16:69774000-69786200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:69774000-69786600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:69774200-69786200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr16:69774200-69786200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:69774200-69786400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr16:69774200-69786600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:69774400-69786400	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr16:69775000-69786400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr16:69775800-69786400	Strong transcription	Brain Angular Gyrus	brain
40	chr16:69776000-69786400	Strong transcription	Liver	Liver
41	chr16:69776000-69786400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:69776000-69786600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:69776000-69786600	Strong transcription	NH-A	brain
44	chr16:69776000-69786800	Strong transcription	Osteobl	bone
45	chr16:69776200-69786600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr16:69776200-69786800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:69776200-69787000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:69776200-69787200	Weak transcription	Psoas Muscle	Psoas
49	chr16:69776400-69786200	Strong transcription	Fetal Intestine Large	intestine
50	chr16:69776400-69786400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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