Variant report

Variant	rs8006443
Chromosome Location	chr14:56093958-56093959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56090621..56092571-chr14:56092593..56095117,2	K562	blood:
2	chr14:56093158..56095942-chr14:56099777..56101884,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10136408	0.81[CEU][hapmap]
rs10146870	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10483644	0.95[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10483649	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432344	0.83[EUR][1000 genomes]
rs12432588	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12432887	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12433592	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434624	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12434660	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435643	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587700	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587705	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587735	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs12588185	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12589864	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12589867	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12590388	0.95[CEU][hapmap];0.82[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12590936	0.95[CEU][hapmap];0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12882850	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12885864	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12888809	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12891489	0.81[CEU][hapmap]
rs12891526	0.83[ASN][1000 genomes]
rs12893162	0.93[ASW][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs12895070	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897227	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17128610	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128614	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17128655	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128657	0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17128677	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128684	0.95[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128690	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17684916	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1951887	0.93[ASW][hapmap];0.92[LWK][hapmap];0.81[MEX][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1951889	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1951890	1.00[ASW][hapmap];0.89[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2093800	0.93[ASN][1000 genomes]
rs2252189	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2274076	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274078	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2274079	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296182	0.93[ASW][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap]
rs2341889	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28458791	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28703642	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34023572	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34111199	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34118806	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34184813	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34408323	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34548095	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34697059	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34706911	0.81[ASN][1000 genomes]
rs34709110	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34931260	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35047443	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35094494	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35420484	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35451981	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35531912	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35535838	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35560341	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35790844	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4457912	1.00[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.86[ASN][1000 genomes]
rs55760841	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56229542	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60233569	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61381603	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573051	0.90[ASN][1000 genomes]
rs68127620	0.93[ASN][1000 genomes]
rs7150285	0.93[ASW][hapmap]
rs7154548	0.93[ASN][1000 genomes]
rs7156566	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72719463	0.86[ASN][1000 genomes]
rs8003149	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8007183	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8007832	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap]
rs8008764	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8011252	0.81[ASN][1000 genomes]
rs8015588	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8006443	KTN1	cis	cerebellum	SCAN
rs8006443	GCH1	cis	parietal	SCAN
rs8006443	KTN1	cis	parietal	SCAN
rs8006443	GCH1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56078800-56095400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:56079200-56095200	Strong transcription	Primary T cells from cord blood	blood
4	chr14:56079800-56111400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr14:56080200-56097800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr14:56080800-56110800	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:56086800-56094400	Weak transcription	NHDF-Ad	bronchial
8	chr14:56087400-56094400	Weak transcription	HepG2	liver
9	chr14:56087400-56094800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:56087400-56111800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:56087400-56112200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:56087400-56132200	Strong transcription	Dnd41	blood
13	chr14:56087600-56099000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr14:56087600-56099400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:56087600-56100400	Weak transcription	Right Ventricle	heart
16	chr14:56087600-56100600	Weak transcription	Fetal Intestine Small	intestine
17	chr14:56087600-56101400	Weak transcription	Pancreas	Pancrea
18	chr14:56087600-56107400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:56087600-56110000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:56088000-56094400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:56088000-56095400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:56088000-56096800	Weak transcription	Small Intestine	intestine
24	chr14:56088000-56096800	Weak transcription	NHLF	lung
25	chr14:56088000-56101200	Weak transcription	Esophagus	oesophagus
26	chr14:56088000-56101600	Weak transcription	Fetal Brain Male	brain
27	chr14:56088000-56103600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:56088200-56094200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:56088200-56094400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:56088200-56094400	Weak transcription	Fetal Kidney	kidney
31	chr14:56088200-56096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:56088200-56098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:56088200-56104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:56088200-56108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
36	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:56088400-56094200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:56088400-56094400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:56088400-56094400	Weak transcription	Fetal Lung	lung
40	chr14:56088400-56094400	Weak transcription	Thymus	Thymus
41	chr14:56088400-56094600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:56088400-56096800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:56088400-56103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
45	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:56088400-56153200	Weak transcription	Gastric	stomach
47	chr14:56088600-56096800	Weak transcription	Fetal Brain Female	brain
48	chr14:56088600-56101400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:56088600-56103600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:56089800-56094400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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