Variant report

Variant	rs2247368
Chromosome Location	chr8:50823808-50823809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:50822049-50824821	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
2	REST	chr8:50823774-50824665	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
3	REST	chr8:50823806-50824635	U87	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
4	REST	chr8:50823682-50824756	PANC-1	pancreas:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
5	REST	chr8:50822051-50824817	PFSK-1	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
6	REST	chr8:50822077-50824754	H1-neurons	neurons:	n/a	chr8:50824275-50824282 chr8:50824255-50824269 chr8:50822601-50822614
7	REST	chr8:50823713-50824772	MCF-7	breast:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
8	POLR2A	chr8:50822917-50824527	H1-neurons	neurons:	n/a	n/a
9	BACH1	chr8:50822981-50824418	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr8:50823539-50824779	HL-60	blood:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
11	REST	chr8:50823786-50824702	SK-N-SH	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
12	REST	chr8:50823780-50824632	ECC-1	luminal epithelium:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
13	REST	chr8:50823806-50824633	U87	brain:	n/a	chr8:50824275-50824282 chr8:50824255-50824269
14	POLR2A	chr8:50823751-50824450	H1-neurons	neurons:	n/a	n/a
15	REST	chr8:50823775-50824698	H1-hESC	embryonic stem cell:	n/a	chr8:50824275-50824282 chr8:50824255-50824269

Variant related genes	Relation type
ENSG00000271148	TF binding region
SNTG1	TF binding region

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10086004	0.84[ASN][1000 genomes]
rs10089399	0.84[ASN][1000 genomes]
rs10090657	0.84[ASN][1000 genomes]
rs10092384	0.84[ASN][1000 genomes]
rs10096242	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10107423	0.84[ASN][1000 genomes]
rs10111730	0.84[ASN][1000 genomes]
rs1038534	0.84[ASN][1000 genomes]
rs10504093	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1074385	0.84[ASN][1000 genomes]
rs10957620	0.84[ASN][1000 genomes]
rs10957679	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957681	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957682	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1157932	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11773979	0.80[ASN][1000 genomes]
rs11781675	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11782772	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11785147	0.84[ASN][1000 genomes]
rs11786880	0.84[EUR][1000 genomes]
rs11786939	0.84[ASN][1000 genomes]
rs11787050	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12542041	0.81[ASN][1000 genomes]
rs12542536	0.84[AMR][1000 genomes]
rs12545695	0.90[AMR][1000 genomes]
rs12547245	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12677051	0.84[ASN][1000 genomes]
rs13251355	0.84[ASN][1000 genomes]
rs13255117	0.84[ASN][1000 genomes]
rs13261298	0.84[ASN][1000 genomes]
rs13264385	0.83[ASN][1000 genomes]
rs13267366	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1352112	0.84[ASN][1000 genomes]
rs1385974	0.84[ASN][1000 genomes]
rs1385975	0.84[ASN][1000 genomes]
rs1385980	0.85[AMR][1000 genomes]
rs1385982	0.84[ASN][1000 genomes]
rs1486241	0.84[ASN][1000 genomes]
rs1486242	0.84[ASN][1000 genomes]
rs1486243	0.84[ASN][1000 genomes]
rs1486251	0.84[ASN][1000 genomes]
rs1486252	0.84[ASN][1000 genomes]
rs1486253	0.84[ASN][1000 genomes]
rs1486254	0.84[ASN][1000 genomes]
rs1486258	0.84[ASN][1000 genomes]
rs1486263	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1552372	0.84[ASN][1000 genomes]
rs1552373	0.84[ASN][1000 genomes]
rs1552375	0.83[ASN][1000 genomes]
rs1552377	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1552379	0.90[AMR][1000 genomes]
rs1580468	0.84[ASN][1000 genomes]
rs1586364	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1601569	0.84[ASN][1000 genomes]
rs16912794	0.84[ASN][1000 genomes]
rs16913087	0.84[ASN][1000 genomes]
rs16913172	0.80[ASN][1000 genomes]
rs16913461	0.84[ASN][1000 genomes]
rs16913472	0.84[ASN][1000 genomes]
rs16913475	0.84[ASN][1000 genomes]
rs16913687	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16914039	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170331	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979535	0.84[ASN][1000 genomes]
rs1994344	0.84[ASN][1000 genomes]
rs2129162	0.84[ASN][1000 genomes]
rs2129164	0.84[ASN][1000 genomes]
rs2129165	0.80[ASN][1000 genomes]
rs2170953	0.80[ASN][1000 genomes]
rs2385545	0.84[ASN][1000 genomes]
rs2385546	0.84[ASN][1000 genomes]
rs2385547	0.84[ASN][1000 genomes]
rs2385554	0.84[ASN][1000 genomes]
rs2385696	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2385697	0.80[ASN][1000 genomes]
rs2449960	1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449961	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2449962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450286	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2450287	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2450290	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2628420	0.97[AMR][1000 genomes]
rs28869911	0.96[ASN][1000 genomes]
rs318850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318851	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs318853	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs318854	1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs318858	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318859	1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318861	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318874	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs379601	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3812426	0.87[ASN][1000 genomes]
rs404309	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs404686	0.90[AMR][1000 genomes]
rs412929	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4339657	0.83[ASN][1000 genomes]
rs4383988	0.84[ASN][1000 genomes]
rs442875	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs451034	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs453906	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4584153	0.84[ASN][1000 genomes]
rs4873113	0.84[ASN][1000 genomes]
rs4873114	0.84[ASN][1000 genomes]
rs4873116	0.84[ASN][1000 genomes]
rs4873118	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873119	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873120	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4873382	0.83[ASN][1000 genomes]
rs4873383	0.84[ASN][1000 genomes]
rs4873388	0.84[ASN][1000 genomes]
rs4873391	0.84[ASN][1000 genomes]
rs4873392	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55636909	0.83[ASN][1000 genomes]
rs55780592	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55879210	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56659775	0.84[ASN][1000 genomes]
rs57462717	0.84[ASN][1000 genomes]
rs58764084	0.84[ASN][1000 genomes]
rs59379959	0.84[ASN][1000 genomes]
rs59848488	0.84[ASN][1000 genomes]
rs60213702	0.84[ASN][1000 genomes]
rs60631955	0.84[ASN][1000 genomes]
rs61662535	0.84[ASN][1000 genomes]
rs6472721	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6472838	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6472839	0.80[ASN][1000 genomes]
rs6984738	0.83[ASN][1000 genomes]
rs6988440	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6994224	0.84[ASN][1000 genomes]
rs7002291	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7002909	0.83[ASN][1000 genomes]
rs7003221	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7003721	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7004973	1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7008449	0.90[AMR][1000 genomes]
rs7008924	0.83[ASN][1000 genomes]
rs7013903	0.84[ASN][1000 genomes]
rs73582706	0.84[ASN][1000 genomes]
rs73582713	0.84[ASN][1000 genomes]
rs73582718	0.83[ASN][1000 genomes]
rs73582724	0.84[ASN][1000 genomes]
rs73582755	0.84[ASN][1000 genomes]
rs73582756	0.84[ASN][1000 genomes]
rs73676077	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388392	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7825552	0.84[ASN][1000 genomes]
rs7826013	0.81[ASN][1000 genomes]
rs7828311	0.84[ASN][1000 genomes]
rs7828900	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs923060	0.83[ASN][1000 genomes]
rs9298228	0.84[ASN][1000 genomes]
rs9298229	0.84[ASN][1000 genomes]
rs964011	0.84[ASN][1000 genomes]
rs9643685	0.80[ASN][1000 genomes]
rs967107	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974740	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs974742	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9886451	0.84[ASN][1000 genomes]

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	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2247368	ETV3L	trans	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50821000-50824400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:50821400-50824600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:50821400-50825000	Active TSS	Fetal Brain Female	brain
4	chr8:50821400-50826800	Active TSS	Fetal Brain Male	brain
5	chr8:50821600-50824400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:50821600-50824600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:50821600-50824600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:50821600-50829000	Active TSS	Brain Germinal Matrix	brain
9	chr8:50821800-50824200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:50821800-50824800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr8:50821800-50825200	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:50821800-50827800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:50821800-50828600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:50822000-50824000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:50822000-50824000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:50822000-50824400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr8:50822000-50824400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:50822000-50824600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:50822000-50824600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:50822000-50828400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:50822200-50824400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:50822200-50824600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:50822600-50824200	Bivalent/Poised TSS	Fetal Kidney	kidney
24	chr8:50822600-50824600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:50822800-50824400	Enhancers	Ovary	ovary
26	chr8:50823000-50824000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:50823200-50824000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:50823400-50824000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr8:50823400-50824200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:50823400-50824400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr8:50823400-50826800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:50823400-50828400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:50823600-50824000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:50823600-50824000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
35	chr8:50823600-50824200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:50823600-50824200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:50823600-50824200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:50823600-50824400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:50823600-50824600	Enhancers	Liver	Liver
40	chr8:50823600-50825600	Active TSS	Brain Angular Gyrus	brain
41	chr8:50823800-50824000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr8:50823800-50824000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr8:50823800-50824000	Bivalent/Poised TSS	NH-A	brain
44	chr8:50823800-50824200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr8:50823800-50824400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr8:50823800-50824600	Bivalent Enhancer	Fetal Lung	lung

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