Variant report

Variant	rs13273033
Chromosome Location	chr8:9540693-9540694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9539321..9541643-chr8:9542322..9544841,2	K562	blood:
2	chr8:9528098..9529849-chr8:9538673..9540928,2	K562	blood:
3	chr8:9536224..9538351-chr8:9540189..9542928,2	K562	blood:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10087166	0.83[CEU][hapmap]
rs10087749	0.85[EUR][1000 genomes]
rs10088037	0.85[EUR][1000 genomes]
rs10088039	0.85[EUR][1000 genomes]
rs10088401	0.85[EUR][1000 genomes]
rs10097438	0.85[EUR][1000 genomes]
rs10098758	0.82[CEU][hapmap]
rs10101953	0.89[CEU][hapmap]
rs10102030	0.88[CEU][hapmap]
rs10103426	0.89[CEU][hapmap]
rs10103752	0.85[EUR][1000 genomes]
rs10111980	0.84[ASW][hapmap];0.83[CEU][hapmap];0.94[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs10112600	0.85[EUR][1000 genomes]
rs10112821	0.85[EUR][1000 genomes]
rs10464998	0.94[EUR][1000 genomes]
rs10465002	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10503380	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs10794712	1.00[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10903314	0.94[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs10903315	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs10903318	0.91[EUR][1000 genomes]
rs11249931	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11249938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249941	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11249942	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11776236	0.80[CEU][hapmap]
rs11779335	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs11783635	0.93[EUR][1000 genomes]
rs11785927	0.93[EUR][1000 genomes]
rs11785987	0.93[EUR][1000 genomes]
rs11984585	0.94[CEU][hapmap]
rs11985349	0.89[CEU][hapmap]
rs11989409	0.86[EUR][1000 genomes]
rs11993506	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11994420	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11995920	0.83[CEU][hapmap]
rs12335063	0.87[EUR][1000 genomes]
rs12541617	0.87[CEU][hapmap]
rs12543959	0.85[CEU][hapmap]
rs12544371	0.84[CEU][hapmap]
rs12545912	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs12674762	0.94[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs12675511	0.83[CEU][hapmap]
rs12675893	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs12676827	0.94[EUR][1000 genomes]
rs12677313	0.80[CEU][hapmap]
rs12679892	0.80[CEU][hapmap]
rs12680098	0.85[EUR][1000 genomes]
rs12680578	0.88[EUR][1000 genomes]
rs12681719	0.89[CEU][hapmap]
rs12682247	0.85[EUR][1000 genomes]
rs13249683	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13250951	0.80[CEU][hapmap]
rs13252338	0.88[EUR][1000 genomes]
rs13262577	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs13263409	0.85[CEU][hapmap]
rs13269437	0.93[EUR][1000 genomes]
rs13270518	0.84[CEU][hapmap]
rs13276750	0.86[EUR][1000 genomes]
rs13276965	0.91[EUR][1000 genomes]
rs17150237	0.94[GIH][hapmap];1.00[MEX][hapmap]
rs28561748	0.87[EUR][1000 genomes]
rs28695930	0.85[EUR][1000 genomes]
rs28716261	0.87[EUR][1000 genomes]
rs35159871	0.93[EUR][1000 genomes]
rs4240626	0.94[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs4240629	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4240631	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4240632	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4282575	0.85[EUR][1000 genomes]
rs4305907	0.94[EUR][1000 genomes]
rs4310210	0.84[EUR][1000 genomes]
rs4320547	0.82[EUR][1000 genomes]
rs4372006	0.83[EUR][1000 genomes]
rs4398920	0.94[CEU][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs4407883	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs4418340	0.87[EUR][1000 genomes]
rs4419813	0.94[EUR][1000 genomes]
rs4464970	0.86[EUR][1000 genomes]
rs4483157	0.84[EUR][1000 genomes]
rs4493905	0.82[EUR][1000 genomes]
rs4510870	0.85[EUR][1000 genomes]
rs4535744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4568626	0.85[EUR][1000 genomes]
rs4579533	0.87[EUR][1000 genomes]
rs4582568	0.82[EUR][1000 genomes]
rs4626603	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[EUR][1000 genomes]
rs4626604	0.93[EUR][1000 genomes]
rs4840431	0.87[EUR][1000 genomes]
rs4841174	0.88[CEU][hapmap]
rs4841179	0.94[CEU][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs4841182	0.87[EUR][1000 genomes]
rs4841183	0.87[EUR][1000 genomes]
rs4841196	0.80[CEU][hapmap]
rs4841197	0.85[ASW][hapmap];0.94[CEU][hapmap];0.83[MKK][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4841202	0.94[EUR][1000 genomes]
rs4841206	0.94[EUR][1000 genomes]
rs4841209	0.94[EUR][1000 genomes]
rs4841210	0.94[EUR][1000 genomes]
rs4841211	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs4841212	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs55917145	0.85[EUR][1000 genomes]
rs61176710	0.81[EUR][1000 genomes]
rs6601331	0.88[CEU][hapmap]
rs6601332	0.89[CEU][hapmap]
rs6601333	0.84[ASW][hapmap];0.83[CEU][hapmap];0.94[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs6601334	0.93[CEU][hapmap]
rs6601339	0.82[EUR][1000 genomes]
rs6601348	0.95[EUR][1000 genomes]
rs6601361	0.93[EUR][1000 genomes]
rs6651495	0.85[EUR][1000 genomes]
rs6651496	0.85[EUR][1000 genomes]
rs6651501	0.84[EUR][1000 genomes]
rs6651502	0.85[EUR][1000 genomes]
rs67480155	0.85[EUR][1000 genomes]
rs6980831	0.89[CEU][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap]
rs6981831	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6983608	0.94[EUR][1000 genomes]
rs6983762	0.94[EUR][1000 genomes]
rs6985140	0.88[GIH][hapmap]
rs6986386	0.84[ASW][hapmap];0.83[CEU][hapmap];0.94[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs6986929	0.92[EUR][1000 genomes]
rs6987698	0.85[EUR][1000 genomes]
rs6990097	0.82[GIH][hapmap];0.88[MEX][hapmap]
rs6990300	0.80[CEU][hapmap]
rs6990590	0.88[CEU][hapmap]
rs6990779	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994557	0.94[EUR][1000 genomes]
rs6995495	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs6996976	0.87[EUR][1000 genomes]
rs7006785	0.93[EUR][1000 genomes]
rs7010270	1.00[CEU][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7015787	0.94[EUR][1000 genomes]
rs7015963	0.93[EUR][1000 genomes]
rs7016561	0.92[EUR][1000 genomes]
rs7016839	0.93[EUR][1000 genomes]
rs7461376	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7462054	0.95[EUR][1000 genomes]
rs7462055	0.94[EUR][1000 genomes]
rs7462102	0.85[EUR][1000 genomes]
rs7462115	0.93[EUR][1000 genomes]
rs7462910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs7464185	0.85[EUR][1000 genomes]
rs7464226	0.85[EUR][1000 genomes]
rs7465249	0.93[EUR][1000 genomes]
rs7812967	0.87[EUR][1000 genomes]
rs7814014	0.89[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.83[TSI][hapmap]
rs7817655	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821559	0.94[GIH][hapmap];1.00[MEX][hapmap]
rs7822548	0.89[CEU][hapmap]
rs7822700	0.80[CEU][hapmap]
rs7822904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832096	0.89[CEU][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs7834823	0.89[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs7837815	0.95[EUR][1000 genomes]
rs7840706	0.85[CEU][hapmap]
rs7846140	0.89[CEU][hapmap]
rs9329203	0.82[GIH][hapmap];0.88[MEX][hapmap]
rs9644677	0.94[MEX][hapmap]
rs9650638	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9650639	0.80[CEU][hapmap]

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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13273033	TNKS	cis	parietal	SCAN
rs13273033	DEFB134	cis	cerebellum	SCAN
rs13273033	TNKS	cis	cerebellum	SCAN
rs13273033	CLDN23	cis	multi-tissue	Pritchard
rs13273033	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
2	chr8:9509400-9545000	Weak transcription	HSMM	muscle
3	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:9511600-9554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:9512400-9551400	Weak transcription	Dnd41	blood
7	chr8:9512600-9543800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:9513200-9564200	Weak transcription	Ovary	ovary
9	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:9513600-9543600	Weak transcription	Fetal Stomach	stomach
12	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:9521000-9544800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:9521400-9544200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:9522000-9545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:9522400-9546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:9523800-9545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:9524200-9544600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:9529600-9545000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:9529600-9545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:9529600-9549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
23	chr8:9530600-9543800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:9530600-9549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:9530800-9543400	Weak transcription	Primary T cells from cord blood	blood
26	chr8:9530800-9549800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:9531200-9564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:9532000-9543400	Weak transcription	A549	lung
29	chr8:9532000-9543400	Weak transcription	GM12878-XiMat	blood
30	chr8:9532400-9543400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:9534800-9544600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:9534800-9563600	Weak transcription	HepG2	liver
33	chr8:9535000-9543600	Weak transcription	Fetal Intestine Small	intestine
34	chr8:9535000-9544800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:9535000-9545400	Weak transcription	Liver	Liver
36	chr8:9535000-9564800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:9535400-9560800	Weak transcription	HMEC	breast
39	chr8:9535400-9563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:9535600-9543600	Weak transcription	Fetal Intestine Large	intestine
41	chr8:9536400-9563400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:9537000-9543400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:9537200-9545000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:9537400-9543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:9537400-9543600	Weak transcription	Left Ventricle	heart
46	chr8:9537400-9543600	Weak transcription	Lung	lung
47	chr8:9537400-9544600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:9537400-9549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:9537400-9563600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:9537600-9543400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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