Variant report

Variant	rs7816645
Chromosome Location	chr8:95738717-95738718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95730604..95734079-chr8:95734980..95738829,4	K562	blood:
2	chr8:95651198..95654140-chr8:95736367..95739273,3	MCF-7	breast:
3	chr8:95728931..95733735-chr8:95735785..95738955,5	K562	blood:

Variant related genes	Relation type
ENSG00000261437	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10091213	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10110080	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1046155	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1046163	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10956925	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes]
rs11785	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12386792	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543234	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs12543253	0.81[AMR][1000 genomes]
rs12543258	0.82[AMR][1000 genomes]
rs12543514	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12545296	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12545776	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12546263	0.80[ASN][1000 genomes]
rs12546282	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12548165	0.82[AMR][1000 genomes]
rs12675372	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs12677519	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs12678311	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes]
rs13248437	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13254184	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13260827	0.87[ASN][1000 genomes]
rs13266255	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13267007	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1365203	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[ASN][1000 genomes]
rs1365205	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap]
rs1549466	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs15710	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs15726	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17717161	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs2033074	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2068005	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2241504	0.83[AMR][1000 genomes]
rs2241505	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2288260	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2303453	0.86[JPT][hapmap];0.83[AMR][1000 genomes]
rs2554396	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2554397	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2722874	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2722876	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2722883	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs2722884	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28659779	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34733016	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808382	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs3864655	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4008177	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.80[ASN][1000 genomes]
rs4348461	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4639480	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57653937	0.80[ASN][1000 genomes]
rs59557867	0.82[ASN][1000 genomes]
rs60573557	0.80[ASN][1000 genomes]
rs6471457	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6471460	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6471462	0.80[ASN][1000 genomes]
rs6471464	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6471465	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6471466	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6471467	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6471468	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6471470	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6471471	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6471472	0.83[ASN][1000 genomes]
rs6471473	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471474	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471475	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471478	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471480	0.91[TSI][hapmap]
rs67900173	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6988635	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6992360	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7009161	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7010722	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7016360	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7017752	0.80[ASN][1000 genomes]
rs7017996	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs72676924	0.83[AMR][1000 genomes]
rs7387164	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7388010	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7461991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7462846	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7812489	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[TSI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7813107	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813216	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813657	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs7814238	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7814803	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7815719	0.81[ASN][1000 genomes]
rs7816188	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820441	0.83[AMR][1000 genomes]
rs7823050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7824332	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7827727	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7829467	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7832771	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7833363	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7840284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842246	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7842400	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7842716	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[TSI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9643347	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9692638	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv611751	chr8:95721435-95742394	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7816645	KIAA1429	cis	cerebellum	SCAN
rs7816645	DPY19L4	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95732800-95739200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:95732800-95739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:95732800-95761400	Weak transcription	Spleen	Spleen
4	chr8:95732800-95780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:95733000-95738800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:95733000-95739600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:95733000-95744600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95733000-95747600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:95733000-95761600	Weak transcription	Aorta	Aorta
10	chr8:95733000-95784400	Weak transcription	Esophagus	oesophagus
11	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
12	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
13	chr8:95733200-95738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:95733200-95739600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:95733200-95739800	Weak transcription	Primary T cells from cord blood	blood
16	chr8:95733200-95739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:95733200-95739800	Weak transcription	HSMMtube	muscle
18	chr8:95733200-95740000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:95733200-95740400	Weak transcription	Stomach Mucosa	stomach
20	chr8:95733200-95744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:95733200-95752000	Weak transcription	Primary B cells from cord blood	blood
22	chr8:95733200-95774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:95733400-95738800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:95733400-95738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:95733400-95738800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:95733400-95739600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:95733400-95739800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:95733400-95743600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:95733400-95752000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:95733400-95783800	Weak transcription	Gastric	stomach
32	chr8:95733400-95784800	Weak transcription	Small Intestine	intestine
33	chr8:95733600-95738800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:95733600-95738800	Weak transcription	Adipose Nuclei	Adipose
35	chr8:95733600-95738800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:95733600-95738800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:95733600-95738800	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:95733600-95738800	Weak transcription	Placenta	Placenta
39	chr8:95733600-95738800	Weak transcription	Fetal Thymus	thymus
40	chr8:95733600-95738800	Weak transcription	Left Ventricle	heart
41	chr8:95733600-95738800	Weak transcription	Lung	lung
42	chr8:95733600-95738800	Weak transcription	HSMM	muscle
43	chr8:95733600-95739000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:95733600-95739200	Weak transcription	Fetal Intestine Large	intestine
45	chr8:95733600-95740200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:95733600-95751800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:95733600-95753400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:95733600-95760200	Weak transcription	Thymus	Thymus
49	chr8:95733600-95779400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:95733600-95782600	Weak transcription	Brain Substantia Nigra	brain

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