Variant report

Variant	rs9322866
Chromosome Location	chr14:31386426-31386427
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	POLR2A	chr14:31386420-31386451	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31385237..31388114-chr14:31390780..31394488,3	MCF-7	breast:
2	chr14:31376657..31378769-chr14:31384602..31386523,2	MCF-7	breast:
3	chr14:31385492..31389361-chr14:31390065..31392327,4	K562	blood:

Variant related genes	Relation type
STRN3	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10129452	0.96[ASN][1000 genomes]
rs10135412	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10138011	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10138452	0.81[EUR][1000 genomes]
rs10140025	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs10140238	0.82[ASN][1000 genomes]
rs10145545	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10147690	0.87[CHB][hapmap];0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs10148294	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10151219	0.92[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1033559	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10444696	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap]
rs10872846	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10872848	0.95[CHB][hapmap]
rs11621991	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs12019004	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs12434740	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12436401	0.81[EUR][1000 genomes]
rs12590617	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs17097477	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097482	0.83[CHB][hapmap]
rs17448194	0.81[EUR][1000 genomes]
rs179707	0.95[CHB][hapmap]
rs179710	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap]
rs179717	0.95[CHB][hapmap]
rs179723	0.95[CHB][hapmap]
rs179734	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs179736	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap]
rs179737	0.92[CEU][hapmap];0.95[CHB][hapmap]
rs179744	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap]
rs1967699	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273171	0.94[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.80[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2378813	0.94[CHB][hapmap];0.80[EUR][1000 genomes]
rs28648046	0.81[EUR][1000 genomes]
rs35422372	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4340230	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs4981811	0.95[CHB][hapmap]
rs4981812	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs6571380	0.95[CHB][hapmap]
rs67209135	0.81[EUR][1000 genomes]
rs67648672	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140306	0.95[ASN][1000 genomes]
rs7140667	0.88[ASN][1000 genomes]
rs7150642	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap]
rs7153141	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7155894	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs72668352	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs766146	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9322869	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv564174	chr14:31365884-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv564175	chr14:31365884-31409010	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv564176	chr14:31365884-31413492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv456197	chr14:31386426-31417816	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv564178	chr14:31386426-31417816	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9322866	HECTD1	cis	cerebellum	SCAN
rs9322866	C14orf102	trans	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
4	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
6	chr14:31360200-31435600	Weak transcription	Gastric	stomach
7	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
8	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
10	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
13	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:31364800-31393200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
16	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
18	chr14:31370000-31393600	Weak transcription	Lung	lung
19	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
20	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:31375600-31390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:31376200-31403000	Weak transcription	Hela-S3	cervix
23	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
26	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
27	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:31379000-31391000	Weak transcription	Fetal Stomach	stomach
29	chr14:31379000-31393600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:31379000-31393600	Weak transcription	Fetal Intestine Small	intestine
31	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:31379400-31390000	Weak transcription	NHEK	skin
33	chr14:31379400-31404200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:31379600-31402800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:31379600-31403400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:31379600-31404000	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:31379600-31405000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:31379800-31391400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:31379800-31403600	Weak transcription	Fetal Heart	heart
40	chr14:31379800-31412400	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
42	chr14:31380600-31402600	Weak transcription	HMEC	breast
43	chr14:31380800-31391400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:31380800-31403200	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:31380800-31405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:31381200-31388000	Weak transcription	A549	lung
47	chr14:31381200-31393800	Weak transcription	Fetal Lung	lung
48	chr14:31381200-31414400	Weak transcription	Fetal Brain Female	brain
49	chr14:31381400-31387400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:31381400-31388000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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