Variant report

Variant	rs1330314
Chromosome Location	chr9:21316649-21316650
allele	A/C
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	CEBPB	chr9:21316276-21316754	Hela-S3	cervix:	n/a	n/a
2	ZNF263	chr9:21316253-21317026	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
IFNA20P	TF binding region

Extended variants
information (count: 162 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10113879	0.97[ASN][1000 genomes]
rs10116540	0.93[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs10116615	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10117202	0.98[EUR][1000 genomes]
rs10117677	0.82[AMR][1000 genomes]
rs10119678	0.80[ASW][hapmap];0.81[CHB][hapmap];0.82[MEX][hapmap]
rs10120117	0.96[EUR][1000 genomes]
rs10120675	0.97[ASN][1000 genomes]
rs10122881	0.96[EUR][1000 genomes]
rs10124167	0.96[EUR][1000 genomes]
rs10125010	0.87[MEX][hapmap]
rs10738591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10757199	0.93[CEU][hapmap]
rs10757208	0.96[ASN][1000 genomes]
rs10757210	0.97[ASN][1000 genomes]
rs10757212	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10757213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10811497	0.93[CEU][hapmap];0.95[TSI][hapmap]
rs10811509	0.81[EUR][1000 genomes]
rs10811514	0.85[EUR][1000 genomes]
rs10811519	0.96[ASN][1000 genomes]
rs10811522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10811523	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10811527	0.96[EUR][1000 genomes]
rs10811529	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10964871	0.93[CEU][hapmap]
rs10964878	0.93[CEU][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs10964884	0.92[CEU][hapmap]
rs10964885	0.93[CEU][hapmap]
rs10964896	0.93[CEU][hapmap]
rs10964918	0.85[EUR][1000 genomes]
rs10964920	0.93[CEU][hapmap];0.85[YRI][hapmap]
rs10964928	0.87[EUR][1000 genomes]
rs10964929	0.87[EUR][1000 genomes]
rs10964930	0.93[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs10964932	0.93[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs10964933	0.87[EUR][1000 genomes]
rs10964934	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs10964943	0.93[EUR][1000 genomes]
rs10964952	0.96[EUR][1000 genomes]
rs10964953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10964954	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10964955	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10964956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10964957	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10964958	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10964959	0.96[EUR][1000 genomes]
rs10964960	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10964961	0.96[EUR][1000 genomes]
rs10964966	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1112783	0.96[EUR][1000 genomes]
rs12551190	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs12552812	0.88[EUR][1000 genomes]
rs12553763	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs12553910	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12555631	0.93[CEU][hapmap]
rs12555749	0.83[EUR][1000 genomes]
rs12683349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1330311	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1330312	0.96[EUR][1000 genomes]
rs1330313	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1330317	0.80[EUR][1000 genomes]
rs1330323	0.96[ASN][1000 genomes]
rs1330324	0.96[ASN][1000 genomes]
rs1360286	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1411436	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1424854	1.00[CEU][hapmap]
rs1467734	0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1467735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1467736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1475547	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1475548	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1543874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1590897	0.96[EUR][1000 genomes]
rs1590898	0.81[EUR][1000 genomes]
rs1820313	0.93[CEU][hapmap]
rs1831391	0.93[CEU][hapmap];0.87[YRI][hapmap]
rs1834247	0.93[CEU][hapmap]
rs1854700	0.93[CEU][hapmap];0.85[YRI][hapmap]
rs1928854	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1928855	0.86[EUR][1000 genomes]
rs1928856	0.85[EUR][1000 genomes]
rs1952690	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015345	0.93[CEU][hapmap];0.95[TSI][hapmap]
rs2094787	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2094788	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2098814	0.93[CEU][hapmap]
rs2225329	0.81[EUR][1000 genomes]
rs28437205	0.87[EUR][1000 genomes]
rs2939	0.93[CEU][hapmap];0.95[TSI][hapmap]
rs2988573	0.93[EUR][1000 genomes]
rs2988574	0.91[EUR][1000 genomes]
rs2990140	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2990141	0.84[CEU][hapmap]
rs3750479	0.93[CEU][hapmap]
rs3758236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3955236	0.93[CEU][hapmap]
rs4112794	0.87[EUR][1000 genomes]
rs4406500	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4568686	0.96[EUR][1000 genomes]
rs4582643	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4628333	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs4634752	0.85[YRI][hapmap]
rs4977682	0.93[CEU][hapmap];0.95[TSI][hapmap]
rs4977684	0.93[CEU][hapmap]
rs4977714	0.94[EUR][1000 genomes]
rs4978069	0.80[EUR][1000 genomes]
rs4978092	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4978093	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4978097	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56035072	0.81[EUR][1000 genomes]
rs57122438	0.87[EUR][1000 genomes]
rs57146220	0.87[EUR][1000 genomes]
rs57371737	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs583396	0.93[EUR][1000 genomes]
rs596180	0.93[CEU][hapmap]
rs597440	0.89[EUR][1000 genomes]
rs604762	0.93[CEU][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs612966	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs614541	1.00[CEU][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs616873	0.81[AMR][1000 genomes]
rs618507	0.94[EUR][1000 genomes]
rs637700	0.93[EUR][1000 genomes]
rs637949	0.93[CEU][hapmap];0.82[TSI][hapmap]
rs653778	0.85[EUR][1000 genomes]
rs660675	0.89[EUR][1000 genomes]
rs667214	0.91[EUR][1000 genomes]
rs667635	0.91[EUR][1000 genomes]
rs67212517	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs681680	0.93[EUR][1000 genomes]
rs7019617	0.92[CEU][hapmap];0.87[YRI][hapmap]
rs7019739	0.93[CEU][hapmap]
rs7020867	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7021699	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7030705	0.93[CEU][hapmap]
rs7031048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs7033839	0.93[CEU][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs7035600	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7035639	0.93[CEU][hapmap]
rs7035669	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7037147	0.93[CEU][hapmap];0.95[TSI][hapmap]
rs7041635	0.93[CEU][hapmap]
rs7047805	0.86[CEU][hapmap]
rs7047811	0.93[CEU][hapmap];0.89[TSI][hapmap]
rs73418252	0.86[EUR][1000 genomes]
rs768849	0.93[CEU][hapmap]
rs7848803	0.89[EUR][1000 genomes]
rs7849623	0.93[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs7849862	0.93[CEU][hapmap];0.95[TSI][hapmap]
rs7853081	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7854247	0.93[CEU][hapmap]
rs7857863	0.88[EUR][1000 genomes]
rs7858766	0.96[ASN][1000 genomes]
rs7862940	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7866359	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7866640	0.98[EUR][1000 genomes]
rs7868334	0.87[MEX][hapmap]
rs7872575	0.96[ASN][1000 genomes]
rs8729	0.80[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv892734	chr9:21108817-21323089	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv613757	chr9:21289923-21316649	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1330314	KLHL9	cis	lymphoblastoid	seeQTL
rs1330314	KLHL9	cis	multi-tissue	Pritchard

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21309800-21322600	Weak transcription	Brain Substantia Nigra	brain
2	chr9:21312200-21322000	Weak transcription	GM12878-XiMat	blood
3	chr9:21313400-21317800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:21315000-21323000	Weak transcription	Thymus	Thymus
5	chr9:21316000-21317000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:21316200-21316800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:21316200-21316800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:21316200-21316800	Flanking Active TSS	Hela-S3	cervix
9	chr9:21316200-21317000	Enhancers	Adipose Nuclei	Adipose
10	chr9:21316200-21317400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:21316200-21317400	Enhancers	HMEC	breast
12	chr9:21316200-21318600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:21316200-21322800	Weak transcription	Fetal Lung	lung
14	chr9:21316400-21316800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:21316400-21317000	Enhancers	Brain Hippocampus Middle	brain
16	chr9:21316400-21317000	Enhancers	Colon Smooth Muscle	Colon
17	chr9:21316400-21317200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:21316400-21317200	Enhancers	Esophagus	oesophagus
19	chr9:21316400-21318800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:21316400-21319000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:21316400-21322800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:21316600-21317000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:21316600-21317200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr9:21316600-21317200	Enhancers	Liver	Liver
25	chr9:21316600-21317200	Enhancers	Right Atrium	heart
26	chr9:21316600-21321200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:21316600-21322600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:21316600-21322600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:21316600-21322800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:21316600-21322800	Weak transcription	Lung	lung
31	chr9:21316600-21323000	Weak transcription	Pancreas	Pancrea
32	chr9:21316600-21330600	Weak transcription	Small Intestine	intestine

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