Variant report

Variant	rs1338565
Chromosome Location	chr10:44059676-44059677
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44057543..44059828-chr10:44101141..44103424,2	K562	blood:

Variant related genes	Relation type
ENSG00000232004	Chromatin interaction
ENSG00000198298	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10793442	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10793443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899828	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11238585	0.96[ASN][1000 genomes]
rs11238588	0.88[CHB][hapmap];0.99[ASN][1000 genomes]
rs12354445	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12415781	0.86[ASN][1000 genomes]
rs12784891	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1832470	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2230660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2230661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2393938	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2393939	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393942	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2393959	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2393960	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2860340	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999270	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2999271	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999272	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999273	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2999274	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999279	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999280	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3006379	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006380	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006383	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006385	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3763789	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4948747	0.94[ASN][1000 genomes]
rs6593359	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7078691	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7079328	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7086537	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7089577	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7091995	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7092156	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101356	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7893169	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7894102	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7897611	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7906129	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7913084	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7915227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9326506	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422385	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422388	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422540	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9422541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9422543	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9422544	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9422545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422546	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9422547	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422549	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422550	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9422555	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422557	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798523	chr10:44051698-44070754	Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1338565	ZNF239	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44050400-44069200	Weak transcription	Fetal Thymus	thymus
2	chr10:44053000-44069000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:44053000-44069200	Weak transcription	Thymus	Thymus
4	chr10:44053200-44062600	Weak transcription	Brain Germinal Matrix	brain
5	chr10:44053200-44062800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:44053200-44066600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:44053200-44068400	Weak transcription	NHDF-Ad	bronchial
8	chr10:44053200-44068800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:44053200-44068800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:44053200-44068800	Weak transcription	Hela-S3	cervix
11	chr10:44053200-44068800	Weak transcription	HSMMtube	muscle
12	chr10:44053400-44062800	Weak transcription	Adipose Nuclei	Adipose
13	chr10:44053400-44068800	Weak transcription	Brain Substantia Nigra	brain
14	chr10:44053600-44061600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:44053600-44062600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:44053600-44062800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:44053600-44064400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:44053600-44064600	Weak transcription	NHLF	lung
19	chr10:44053600-44068200	Weak transcription	Fetal Kidney	kidney
20	chr10:44053600-44068600	Weak transcription	NH-A	brain
21	chr10:44053600-44068800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:44053600-44068800	Weak transcription	Psoas Muscle	Psoas
23	chr10:44053600-44068800	Weak transcription	Right Ventricle	heart
24	chr10:44053600-44069000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:44053600-44069200	Weak transcription	Left Ventricle	heart
26	chr10:44053800-44061600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:44053800-44061600	Weak transcription	Fetal Brain Female	brain
28	chr10:44053800-44063200	Weak transcription	Brain Angular Gyrus	brain
29	chr10:44053800-44066600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr10:44053800-44068600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:44053800-44068800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:44053800-44069000	Weak transcription	HSMM	muscle
33	chr10:44054200-44061400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:44054200-44062800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:44054200-44069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:44054400-44066400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:44055000-44062800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:44055000-44062800	Weak transcription	Osteobl	bone
39	chr10:44055000-44063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:44055000-44069000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:44055000-44069000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:44055000-44069600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:44055200-44063000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr10:44055200-44068800	Weak transcription	Fetal Brain Male	brain
45	chr10:44055400-44060800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr10:44055400-44062000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr10:44055400-44062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:44055400-44070000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr10:44056000-44062400	Weak transcription	Colon Smooth Muscle	Colon
50	chr10:44056000-44062800	Weak transcription	Liver	Liver

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