Variant report

Variant	rs4841212
Chromosome Location	chr8:9601367-9601368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10087166	0.83[CEU][hapmap]
rs10087749	0.83[EUR][1000 genomes]
rs10088037	0.83[EUR][1000 genomes]
rs10088039	0.83[EUR][1000 genomes]
rs10088401	0.83[EUR][1000 genomes]
rs10097438	0.83[EUR][1000 genomes]
rs10098758	0.82[CEU][hapmap]
rs10101953	0.89[CEU][hapmap]
rs10102030	0.88[CEU][hapmap]
rs10103426	0.89[CEU][hapmap]
rs10103752	0.83[EUR][1000 genomes]
rs10111980	0.83[CEU][hapmap];0.94[GIH][hapmap]
rs10112600	0.83[EUR][1000 genomes]
rs10112821	0.83[EUR][1000 genomes]
rs10464998	0.98[EUR][1000 genomes]
rs10465002	0.98[EUR][1000 genomes]
rs10503380	0.84[CEU][hapmap];0.82[GIH][hapmap]
rs10794712	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10903314	0.94[CEU][hapmap];0.94[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs10903315	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs10903318	0.94[EUR][1000 genomes]
rs11249931	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs11249938	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11249941	0.93[EUR][1000 genomes]
rs11249942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11776236	0.80[CEU][hapmap]
rs11779335	1.00[CEU][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs11783635	0.97[EUR][1000 genomes]
rs11785927	0.97[EUR][1000 genomes]
rs11785987	0.97[EUR][1000 genomes]
rs11984585	0.94[CEU][hapmap]
rs11985349	0.89[CEU][hapmap]
rs11989409	0.89[EUR][1000 genomes]
rs11993506	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs11994420	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs11995920	0.83[CEU][hapmap]
rs12335063	0.83[EUR][1000 genomes]
rs12541617	0.87[CEU][hapmap]
rs12542457	0.81[MKK][hapmap]
rs12543959	0.85[CEU][hapmap]
rs12544371	0.84[CEU][hapmap]
rs12545912	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12674762	0.94[CEU][hapmap];0.94[GIH][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs12675511	0.83[CEU][hapmap]
rs12675893	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs12676827	0.98[EUR][1000 genomes]
rs12677313	0.80[CEU][hapmap]
rs12679892	0.80[CEU][hapmap]
rs12680098	0.81[EUR][1000 genomes]
rs12680578	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681719	0.89[CEU][hapmap]
rs12682247	0.81[EUR][1000 genomes]
rs13249683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13250951	0.80[CEU][hapmap]
rs13252338	0.91[EUR][1000 genomes]
rs13262577	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs13263409	0.85[CEU][hapmap]
rs13269437	0.96[EUR][1000 genomes]
rs13270518	0.84[CEU][hapmap]
rs13273033	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs13276750	0.83[EUR][1000 genomes]
rs13276965	0.95[EUR][1000 genomes]
rs17150237	0.94[GIH][hapmap]
rs28561748	0.83[EUR][1000 genomes]
rs28695930	0.83[EUR][1000 genomes]
rs28716261	0.83[EUR][1000 genomes]
rs35159871	0.97[EUR][1000 genomes]
rs4240626	0.94[CEU][hapmap];0.94[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs4240629	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4240631	0.82[EUR][1000 genomes]
rs4240632	0.91[EUR][1000 genomes]
rs4282575	0.83[EUR][1000 genomes]
rs4305907	0.98[EUR][1000 genomes]
rs4310210	0.82[EUR][1000 genomes]
rs4398920	0.94[CEU][hapmap];0.94[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4407883	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs4418340	0.83[EUR][1000 genomes]
rs4419813	0.98[EUR][1000 genomes]
rs4464970	0.83[EUR][1000 genomes]
rs4483157	0.81[EUR][1000 genomes]
rs4493905	0.80[EUR][1000 genomes]
rs4510870	0.81[EUR][1000 genomes]
rs4535744	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4568626	0.83[EUR][1000 genomes]
rs4579533	0.83[EUR][1000 genomes]
rs4582568	0.80[EUR][1000 genomes]
rs4626603	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4626604	0.97[EUR][1000 genomes]
rs4840431	0.83[EUR][1000 genomes]
rs4841174	0.88[CEU][hapmap]
rs4841179	0.94[CEU][hapmap];0.92[GIH][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs4841182	0.83[EUR][1000 genomes]
rs4841183	0.83[EUR][1000 genomes]
rs4841196	0.80[CEU][hapmap]
rs4841197	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs4841202	0.98[EUR][1000 genomes]
rs4841206	0.98[EUR][1000 genomes]
rs4841209	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4841210	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4841211	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55917145	0.83[EUR][1000 genomes]
rs56369100	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601331	0.88[CEU][hapmap]
rs6601332	0.89[CEU][hapmap]
rs6601333	0.83[CEU][hapmap];0.94[GIH][hapmap]
rs6601334	0.93[CEU][hapmap]
rs6601348	0.93[EUR][1000 genomes]
rs6601361	0.97[EUR][1000 genomes]
rs6651495	0.83[EUR][1000 genomes]
rs6651496	0.83[EUR][1000 genomes]
rs6651501	0.82[EUR][1000 genomes]
rs6651502	0.83[EUR][1000 genomes]
rs67480155	0.87[EUR][1000 genomes]
rs6980831	0.89[CEU][hapmap];0.92[GIH][hapmap]
rs6981831	0.91[EUR][1000 genomes]
rs6983608	0.98[EUR][1000 genomes]
rs6983762	0.98[EUR][1000 genomes]
rs6985140	0.81[GIH][hapmap]
rs6986386	0.83[CEU][hapmap];0.94[GIH][hapmap]
rs6986929	0.96[EUR][1000 genomes]
rs6987698	0.81[EUR][1000 genomes]
rs6990097	0.82[GIH][hapmap]
rs6990300	0.80[CEU][hapmap]
rs6990590	0.88[CEU][hapmap]
rs6990779	0.91[EUR][1000 genomes]
rs6994557	0.96[EUR][1000 genomes]
rs6994574	0.82[MKK][hapmap]
rs6995495	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs6996976	0.83[EUR][1000 genomes]
rs7006785	0.97[EUR][1000 genomes]
rs7010270	1.00[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs7015787	0.96[EUR][1000 genomes]
rs7015963	0.97[EUR][1000 genomes]
rs7016561	0.94[EUR][1000 genomes]
rs7016839	0.97[EUR][1000 genomes]
rs7461376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7461939	0.82[MKK][hapmap]
rs7462054	0.97[EUR][1000 genomes]
rs7462055	0.96[EUR][1000 genomes]
rs7462102	0.83[EUR][1000 genomes]
rs7462115	0.95[EUR][1000 genomes]
rs7462910	1.00[CEU][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs7464185	0.83[EUR][1000 genomes]
rs7464226	0.83[EUR][1000 genomes]
rs7465249	0.95[EUR][1000 genomes]
rs7812967	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814014	0.89[CEU][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap]
rs7817655	0.82[EUR][1000 genomes]
rs7821559	0.94[GIH][hapmap]
rs7822548	0.89[CEU][hapmap]
rs7822700	0.80[CEU][hapmap]
rs7822904	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7832096	0.89[CEU][hapmap];0.92[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs7834823	0.89[CEU][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap]
rs7837815	0.96[EUR][1000 genomes]
rs7840706	0.85[CEU][hapmap]
rs7846140	0.89[CEU][hapmap]
rs9329203	0.82[GIH][hapmap]
rs9644704	0.82[MKK][hapmap]
rs9650638	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9650639	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4841212	TNKS	cis	parietal	SCAN
rs4841212	DEFB134	cis	cerebellum	SCAN
rs4841212	TNKS	cis	cerebellum	SCAN
rs4841212	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
3	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:9542200-9606800	Weak transcription	Small Intestine	intestine
5	chr8:9543400-9606400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:9551200-9610600	Weak transcription	Fetal Brain Male	brain
8	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:9558400-9605000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:9560600-9609200	Weak transcription	K562	blood
11	chr8:9561000-9616200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:9562200-9608000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:9564000-9608200	Weak transcription	Colonic Mucosa	Colon
14	chr8:9565000-9606400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:9565000-9608000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:9565000-9616200	Weak transcription	Pancreas	Pancrea
17	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:9567800-9605400	Weak transcription	NHLF	lung
19	chr8:9567800-9611200	Weak transcription	NHEK	skin
20	chr8:9569000-9606200	Weak transcription	HSMMtube	muscle
21	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:9571600-9606200	Weak transcription	Aorta	Aorta
23	chr8:9576000-9611400	Weak transcription	Fetal Heart	heart
24	chr8:9578600-9605600	Weak transcription	HMEC	breast
25	chr8:9578600-9606200	Weak transcription	Left Ventricle	heart
26	chr8:9579400-9607200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:9579600-9606200	Weak transcription	Lung	lung
28	chr8:9585200-9627600	Weak transcription	Hela-S3	cervix
29	chr8:9586800-9609200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:9588600-9626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:9592600-9606200	Weak transcription	Gastric	stomach
32	chr8:9593000-9602000	Weak transcription	HUVEC	blood vessel
33	chr8:9593000-9604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:9593000-9605000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:9593000-9605200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:9593000-9605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:9593000-9605400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:9593000-9605400	Weak transcription	A549	lung
39	chr8:9593000-9606200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:9593000-9607400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:9593000-9611200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:9593200-9605400	Weak transcription	HepG2	liver
43	chr8:9593200-9606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:9593200-9607200	Weak transcription	Right Ventricle	heart
45	chr8:9593200-9610200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:9593400-9606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:9593600-9605400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:9593600-9605400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:9593600-9605400	Weak transcription	NHDF-Ad	bronchial
50	chr8:9593600-9606200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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