Variant report

Variant	rs9322217
Chromosome Location	chr6:150066058-150066059
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150065257..150067789-chr6:150184620..150186500,2	K562	blood:

Variant related genes	Relation type
ENSG00000120256	Chromatin interaction
ENSG00000268592	Chromatin interaction

Extended variants
information (count: 224 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:219)

rs_ID	r²[population]
rs10214845	0.82[EUR][1000 genomes]
rs10452626	0.81[EUR][1000 genomes]
rs10457850	0.81[EUR][1000 genomes]
rs10457851	0.81[EUR][1000 genomes]
rs10747275	0.84[EUR][1000 genomes]
rs10747276	0.89[EUR][1000 genomes]
rs10782310	0.85[EUR][1000 genomes]
rs10782311	0.84[EUR][1000 genomes]
rs10782312	0.84[EUR][1000 genomes]
rs10782313	0.84[EUR][1000 genomes]
rs10782314	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10782315	0.90[EUR][1000 genomes]
rs10782316	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10782317	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10782318	0.89[EUR][1000 genomes]
rs1080670	0.84[EUR][1000 genomes]
rs10872643	0.88[EUR][1000 genomes]
rs10872644	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10872645	0.87[EUR][1000 genomes]
rs10872646	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10872647	0.86[EUR][1000 genomes]
rs10872648	0.86[EUR][1000 genomes]
rs10872649	0.89[EUR][1000 genomes]
rs10872650	0.89[EUR][1000 genomes]
rs10872651	0.84[EUR][1000 genomes]
rs10872652	0.81[EUR][1000 genomes]
rs1112729	0.81[EUR][1000 genomes]
rs1112730	0.81[EUR][1000 genomes]
rs11155668	0.84[EUR][1000 genomes]
rs11155669	0.85[EUR][1000 genomes]
rs11155670	0.85[EUR][1000 genomes]
rs11155671	0.86[EUR][1000 genomes]
rs11155674	0.88[EUR][1000 genomes]
rs11155675	0.88[EUR][1000 genomes]
rs11155676	0.82[EUR][1000 genomes]
rs11155677	0.88[EUR][1000 genomes]
rs11155679	0.85[EUR][1000 genomes]
rs11155680	0.81[EUR][1000 genomes]
rs1125	0.85[EUR][1000 genomes]
rs12111376	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12174349	0.89[EUR][1000 genomes]
rs12174716	0.86[EUR][1000 genomes]
rs12175504	0.82[EUR][1000 genomes]
rs12175575	0.81[EUR][1000 genomes]
rs12178310	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12183664	0.87[EUR][1000 genomes]
rs12191643	0.85[EUR][1000 genomes]
rs12195866	0.85[EUR][1000 genomes]
rs12200670	0.88[EUR][1000 genomes]
rs12201033	0.84[EUR][1000 genomes]
rs12203703	0.89[EUR][1000 genomes]
rs12205092	0.89[EUR][1000 genomes]
rs12206402	0.87[EUR][1000 genomes]
rs12211511	0.87[EUR][1000 genomes]
rs12213779	0.81[EUR][1000 genomes]
rs12525871	0.81[EUR][1000 genomes]
rs12526675	0.90[EUR][1000 genomes]
rs12528279	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12529698	0.86[EUR][1000 genomes]
rs12660304	0.90[EUR][1000 genomes]
rs12662162	0.83[EUR][1000 genomes]
rs12662174	0.85[EUR][1000 genomes]
rs1413654	0.82[EUR][1000 genomes]
rs17672976	0.81[EUR][1000 genomes]
rs17745062	0.84[EUR][1000 genomes]
rs1934534	0.88[EUR][1000 genomes]
rs2064520	0.82[EUR][1000 genomes]
rs2064521	0.84[EUR][1000 genomes]
rs2065663	0.89[EUR][1000 genomes]
rs2065664	0.81[EUR][1000 genomes]
rs2185352	0.88[EUR][1000 genomes]
rs2297928	0.89[EUR][1000 genomes]
rs2297930	0.89[EUR][1000 genomes]
rs2297932	0.89[EUR][1000 genomes]
rs34157004	0.88[EUR][1000 genomes]
rs34337297	0.84[EUR][1000 genomes]
rs35031906	0.84[EUR][1000 genomes]
rs35443312	0.84[EUR][1000 genomes]
rs35763894	0.85[EUR][1000 genomes]
rs35830138	0.88[EUR][1000 genomes]
rs35961297	0.88[EUR][1000 genomes]
rs35967444	0.88[EUR][1000 genomes]
rs3763161	0.90[EUR][1000 genomes]
rs3798761	0.88[EUR][1000 genomes]
rs3805748	0.80[EUR][1000 genomes]
rs3805749	0.82[EUR][1000 genomes]
rs3924871	0.88[EUR][1000 genomes]
rs4039600	0.81[EUR][1000 genomes]
rs4354168	0.88[EUR][1000 genomes]
rs4380763	0.88[EUR][1000 genomes]
rs4421206	0.88[EUR][1000 genomes]
rs4455682	0.88[EUR][1000 genomes]
rs4869812	0.88[EUR][1000 genomes]
rs4869966	0.81[EUR][1000 genomes]
rs4870050	0.80[EUR][1000 genomes]
rs4870139	0.82[EUR][1000 genomes]
rs4870144	0.83[EUR][1000 genomes]
rs4870267	0.88[EUR][1000 genomes]
rs4870388	0.88[EUR][1000 genomes]
rs4870493	0.88[EUR][1000 genomes]
rs4870509	0.88[EUR][1000 genomes]
rs4870529	0.89[EUR][1000 genomes]
rs55849538	0.85[EUR][1000 genomes]
rs55938765	0.89[EUR][1000 genomes]
rs55993747	0.84[EUR][1000 genomes]
rs56091542	0.85[EUR][1000 genomes]
rs56397000	0.90[EUR][1000 genomes]
rs57938011	0.86[EUR][1000 genomes]
rs58189451	0.80[EUR][1000 genomes]
rs60424881	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62439811	0.87[EUR][1000 genomes]
rs62439836	0.87[EUR][1000 genomes]
rs62439837	0.88[EUR][1000 genomes]
rs62439840	0.88[EUR][1000 genomes]
rs62439842	0.88[EUR][1000 genomes]
rs62439843	0.84[EUR][1000 genomes]
rs62441279	0.89[EUR][1000 genomes]
rs62441284	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62441303	0.81[EUR][1000 genomes]
rs66516768	0.88[EUR][1000 genomes]
rs6913486	0.88[EUR][1000 genomes]
rs7450246	0.88[EUR][1000 genomes]
rs7740278	0.87[EUR][1000 genomes]
rs7752594	0.86[EUR][1000 genomes]
rs7753812	0.85[EUR][1000 genomes]
rs7754399	0.88[EUR][1000 genomes]
rs7767622	0.88[EUR][1000 genomes]
rs9285522	0.87[EUR][1000 genomes]
rs9285523	0.84[EUR][1000 genomes]
rs9285524	0.85[EUR][1000 genomes]
rs9322196	0.84[EUR][1000 genomes]
rs9322197	0.81[EUR][1000 genomes]
rs9322198	0.84[EUR][1000 genomes]
rs9322200	0.84[EUR][1000 genomes]
rs9322204	0.85[EUR][1000 genomes]
rs9322206	0.83[EUR][1000 genomes]
rs9322207	0.88[EUR][1000 genomes]
rs9322208	0.88[EUR][1000 genomes]
rs9322209	0.88[EUR][1000 genomes]
rs9322210	0.88[EUR][1000 genomes]
rs9322214	0.88[EUR][1000 genomes]
rs9322215	0.87[EUR][1000 genomes]
rs9322220	0.82[EUR][1000 genomes]
rs9322221	0.81[EUR][1000 genomes]
rs9377228	0.82[EUR][1000 genomes]
rs9377230	0.83[EUR][1000 genomes]
rs9379314	0.81[EUR][1000 genomes]
rs9379348	0.84[EUR][1000 genomes]
rs9383812	0.88[EUR][1000 genomes]
rs9383844	0.89[EUR][1000 genomes]
rs9393132	0.88[EUR][1000 genomes]
rs9393175	0.88[EUR][1000 genomes]
rs9399693	0.81[EUR][1000 genomes]
rs9404047	0.83[EUR][1000 genomes]
rs9404048	0.84[EUR][1000 genomes]
rs9406286	0.85[EUR][1000 genomes]
rs9406345	0.83[EUR][1000 genomes]
rs9406346	0.84[EUR][1000 genomes]
rs9478291	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9479094	0.89[EUR][1000 genomes]
rs9479494	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9479808	0.84[EUR][1000 genomes]
rs9479810	0.86[EUR][1000 genomes]
rs9480009	0.89[EUR][1000 genomes]
rs9480031	0.89[EUR][1000 genomes]
rs9485405	0.82[EUR][1000 genomes]
rs9485408	0.84[EUR][1000 genomes]
rs9498382	0.81[EUR][1000 genomes]
rs9498384	0.81[EUR][1000 genomes]
rs9505823	0.85[EUR][1000 genomes]
rs9505824	0.85[EUR][1000 genomes]
rs9505826	0.82[EUR][1000 genomes]
rs9505967	0.88[EUR][1000 genomes]
rs9505972	0.84[EUR][1000 genomes]
rs9505982	0.84[EUR][1000 genomes]
rs9505983	0.85[EUR][1000 genomes]
rs9688350	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9688452	0.88[EUR][1000 genomes]
rs9688517	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9688699	0.90[EUR][1000 genomes]
rs9688750	0.84[EUR][1000 genomes]
rs9688794	0.85[EUR][1000 genomes]
rs9688858	0.82[EUR][1000 genomes]
rs9688861	0.85[EUR][1000 genomes]
rs9689084	0.87[EUR][1000 genomes]
rs9689340	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9689599	0.85[EUR][1000 genomes]
rs9689702	0.90[EUR][1000 genomes]
rs9689716	0.88[EUR][1000 genomes]
rs9689723	0.88[EUR][1000 genomes]
rs9717327	0.81[EUR][1000 genomes]
rs9718079	0.81[EUR][1000 genomes]
rs9765929	0.81[EUR][1000 genomes]
rs9765965	0.80[EUR][1000 genomes]
rs9766004	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9766037	0.82[EUR][1000 genomes]
rs9766214	0.80[EUR][1000 genomes]
rs9766444	0.80[EUR][1000 genomes]
rs9766525	0.82[EUR][1000 genomes]
rs9766886	0.85[EUR][1000 genomes]
rs9767077	0.80[EUR][1000 genomes]
rs9767105	0.87[EUR][1000 genomes]
rs9767113	0.89[EUR][1000 genomes]
rs9767122	0.82[EUR][1000 genomes]
rs9767123	0.88[EUR][1000 genomes]
rs9767309	0.89[EUR][1000 genomes]
rs9767554	0.83[EUR][1000 genomes]
rs9767555	0.81[EUR][1000 genomes]
rs9767652	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9767713	0.81[EUR][1000 genomes]
rs9767727	0.88[EUR][1000 genomes]
rs9800580	0.85[EUR][1000 genomes]
rs9800603	0.85[EUR][1000 genomes]
rs9800614	0.86[EUR][1000 genomes]
rs9800686	0.84[EUR][1000 genomes]
rs9800736	0.88[EUR][1000 genomes]
rs9800806	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9800871	0.86[EUR][1000 genomes]
rs9968911	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs9322217	RP11-350J20.5	cis	Esophagus Muscularis	GTEx
rs9322217	RP11-350J20.5	cis	Adipose Subcutaneous	GTEx
rs9322217	C6orf72	Cis_1M	lymphoblastoid	RTeQTL
rs9322217	RP11-350J20.5	cis	Thyroid	GTEx
rs9322217	RP11-350J20.5	cis	Artery Tibial	GTEx
rs9322217	NUP43	Cis_1M	lymphoblastoid	RTeQTL
rs9322217	RP11-350J20.5	cis	Esophagus Mucosa	GTEx
rs9322217	RP11-350J20.5	cis	Skin Sun Exposed Lower leg	GTEx
rs9322217	RAET1G	cis	Thyroid	GTEx
rs9322217	NUP43	cis	Whole Blood	GTEx
rs9322217	GINM1	cis	Whole Blood	GTEx
rs9322217	RP11-350J20.5	cis	Nerve Tibial	GTEx
rs9322217	PCMT1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150039800-150066800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:150039800-150067000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:150040000-150066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:150040400-150066200	Weak transcription	Fetal Brain Male	brain
5	chr6:150048400-150066600	Weak transcription	Fetal Heart	heart
6	chr6:150050200-150066600	Weak transcription	Stomach Mucosa	stomach
7	chr6:150050400-150066400	Strong transcription	Fetal Intestine Small	intestine
8	chr6:150052200-150066800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:150058800-150066600	Weak transcription	HSMMtube	muscle
10	chr6:150061200-150066800	Weak transcription	HSMM	muscle
11	chr6:150062000-150066600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:150062800-150066200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:150063200-150066800	Weak transcription	Psoas Muscle	Psoas
14	chr6:150063600-150066200	Weak transcription	Small Intestine	intestine
15	chr6:150063600-150066600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:150063600-150066600	Weak transcription	Fetal Brain Female	brain
17	chr6:150063600-150066600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:150063600-150066800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:150063600-150066800	Weak transcription	Brain Germinal Matrix	brain
20	chr6:150063800-150066400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:150063800-150066600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:150063800-150066600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:150063800-150066600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:150063800-150066600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:150063800-150066600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:150063800-150066600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:150063800-150066600	Weak transcription	Fetal Kidney	kidney
28	chr6:150063800-150066600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:150063800-150066600	Weak transcription	Right Ventricle	heart
30	chr6:150063800-150066600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:150063800-150066600	Weak transcription	NH-A	brain
32	chr6:150063800-150066600	Weak transcription	NHLF	lung
33	chr6:150063800-150066800	Weak transcription	Brain Angular Gyrus	brain
34	chr6:150063800-150066800	Weak transcription	Ovary	ovary
35	chr6:150063800-150066800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:150063800-150067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:150063800-150067000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:150064000-150066200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:150064000-150066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:150064000-150066200	Weak transcription	HepG2	liver
41	chr6:150064000-150066400	Weak transcription	NHEK	skin
42	chr6:150064000-150066600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:150064000-150066600	Weak transcription	Brain Anterior Caudate	brain
44	chr6:150064000-150066600	Weak transcription	Brain Substantia Nigra	brain
45	chr6:150064000-150066600	Weak transcription	Colonic Mucosa	Colon
46	chr6:150064000-150066600	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:150064000-150066600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:150064000-150066600	Weak transcription	A549	lung
49	chr6:150064000-150066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:150064200-150066200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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