Variant report

Variant	rs7147669
Chromosome Location	chr14:105523817-105523818
allele	A/G
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	POLR2A	chr14:105523552-105523921	GM12892	blood:	n/a	n/a
2	ZNF384	chr14:105523719-105523866	K562	blood:	n/a	n/a

Variant related genes	Relation type
GPR132	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10151777	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627133	0.96[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12433746	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12436511	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12889428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890396	0.83[ASN][1000 genomes]
rs12895274	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28664663	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34116292	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34878850	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34882611	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35886229	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35966880	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3803294	0.86[JPT][hapmap]
rs3809464	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809465	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809466	0.91[CEU][hapmap];0.90[CHB][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809469	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3809470	0.84[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3825765	0.93[EUR][1000 genomes]
rs4265748	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4288933	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4391998	0.82[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs4457938	0.90[EUR][1000 genomes]
rs4464021	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4581644	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4635277	0.86[JPT][hapmap]
rs55780149	0.88[AMR][1000 genomes]
rs55951335	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56159244	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56275808	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60562761	0.87[EUR][1000 genomes]
rs61997788	0.82[AMR][1000 genomes]
rs61997789	0.82[AMR][1000 genomes]
rs7144647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145885	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147439	0.91[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs7152235	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7152401	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7157567	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158479	1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap]
rs7159920	0.86[JPT][hapmap]
rs7160811	0.89[CHB][hapmap];0.81[CHD][hapmap];0.96[MEX][hapmap]
rs72703887	0.92[ASN][1000 genomes]
rs8011909	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015942	0.89[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap]
rs8018607	0.92[MEX][hapmap]
rs8020062	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9743945	0.89[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
15	nsv566151	chr14:105459140-105555396	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
17	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
18	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
19	nsv983941	chr14:105485574-105534240	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
20	nsv9175	chr14:105496509-105688941	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv902426	chr14:105500760-105537476	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv902427	chr14:105508577-105585347	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
23	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
24	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7147669	TRMT61A	cis	parietal	SCAN
rs7147669	AHNAK2	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105512600-105524800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:105512600-105525000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:105513400-105525000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:105513600-105524200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:105513600-105524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:105514200-105524000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:105514400-105524400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:105515000-105524400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:105515200-105524000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:105515200-105524000	Strong transcription	GM12878-XiMat	blood
11	chr14:105515200-105524400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:105515200-105525000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:105515200-105525000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:105515400-105525000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:105515400-105525400	Weak transcription	Thymus	Thymus
16	chr14:105515600-105524000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr14:105516400-105525200	Weak transcription	Right Atrium	heart
18	chr14:105517200-105525600	Weak transcription	Esophagus	oesophagus
19	chr14:105517400-105524800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:105517400-105525000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:105517400-105527000	Weak transcription	Fetal Intestine Small	intestine
22	chr14:105517800-105526600	Weak transcription	Liver	Liver
23	chr14:105518000-105525000	Weak transcription	Fetal Thymus	thymus
24	chr14:105518400-105525200	Weak transcription	Colonic Mucosa	Colon
25	chr14:105518400-105525200	Weak transcription	Pancreas	Pancrea
26	chr14:105518400-105527400	Weak transcription	Gastric	stomach
27	chr14:105518600-105525200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:105518600-105526200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:105519600-105524000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:105519600-105525000	Strong transcription	Primary T cells from cord blood	blood
31	chr14:105520600-105524600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:105522000-105524400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:105522000-105525000	Weak transcription	Right Ventricle	heart
34	chr14:105522200-105525200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:105522600-105524400	Weak transcription	Primary B cells from cord blood	blood
36	chr14:105522600-105524400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:105522600-105525000	Weak transcription	Lung	lung
38	chr14:105522600-105525000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:105522600-105526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:105522800-105531000	Weak transcription	Brain Anterior Caudate	brain
41	chr14:105523000-105531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:105523200-105524000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:105523200-105524400	Weak transcription	Spleen	Spleen
44	chr14:105523200-105525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:105523200-105525200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:105523400-105525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:105523400-105525200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:105523800-105524600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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