Variant report

Variant	rs6826085
Chromosome Location	chr4:76870229-76870230
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	ELF1	chr4:76870151-76870590	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76861783..76864488-chr4:76869135..76870713,2	K562	blood:

Variant related genes	Relation type
ENSG00000268788	TF binding region
ENSG00000138744	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10000130	0.80[ASN][1000 genomes]
rs10003240	0.80[ASN][1000 genomes]
rs10003382	0.80[ASN][1000 genomes]
rs10008757	0.92[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014049	0.80[ASN][1000 genomes]
rs10014837	0.89[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs10017431	1.00[CHB][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs10021768	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs10025102	0.80[ASN][1000 genomes]
rs10031452	0.84[ASW][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs10336	0.92[ASW][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.83[LWK][hapmap];0.82[TSI][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs11097189	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097212	0.86[GIH][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs11732759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11931349	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11947509	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111710	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13125558	1.00[CEU][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13126007	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13128319	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs13130018	0.80[ASN][1000 genomes]
rs13130221	0.80[ASN][1000 genomes]
rs13132564	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1554013	0.83[ASN][1000 genomes]
rs2242471	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242473	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242474	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292533	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28681066	0.86[ASN][1000 genomes]
rs4129781	0.80[ASN][1000 genomes]
rs4241578	0.80[ASN][1000 genomes]
rs4241579	0.80[ASN][1000 genomes]
rs4241580	0.80[ASN][1000 genomes]
rs4257674	0.80[ASN][1000 genomes]
rs4282209	0.92[CEU][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4302486	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs4304003	0.84[ASW][hapmap];0.84[GIH][hapmap]
rs4309862	0.80[ASN][1000 genomes]
rs4318674	0.83[ASN][1000 genomes]
rs4337760	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356932	0.80[ASN][1000 genomes]
rs4371639	0.80[ASN][1000 genomes]
rs4380549	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs4386624	0.80[ASN][1000 genomes]
rs4417995	0.80[ASN][1000 genomes]
rs4422436	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs4456983	0.80[ASN][1000 genomes]
rs4478212	0.80[ASN][1000 genomes]
rs4512021	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs4580676	0.80[ASN][1000 genomes]
rs4583787	0.80[ASN][1000 genomes]
rs4616778	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs4619915	0.84[GIH][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs4859413	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859414	0.89[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs4859415	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs4859581	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859584	0.89[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs4859586	0.80[ASN][1000 genomes]
rs4859587	0.80[ASN][1000 genomes]
rs4859588	0.89[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs4859591	0.80[ASN][1000 genomes]
rs4859594	0.83[ASN][1000 genomes]
rs4859595	0.80[ASN][1000 genomes]
rs4859597	0.80[ASN][1000 genomes]
rs4859598	0.80[ASN][1000 genomes]
rs4859600	0.80[ASN][1000 genomes]
rs6532078	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6532083	0.92[ASW][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];0.86[LWK][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs6532086	0.80[ASN][1000 genomes]
rs6532093	0.80[ASN][1000 genomes]
rs6532111	1.00[CHB][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs6532114	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs6532121	0.84[ASW][hapmap];0.86[GIH][hapmap]
rs6814012	0.80[ASN][1000 genomes]
rs6814817	0.80[ASN][1000 genomes]
rs6819597	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs6819920	0.80[ASN][1000 genomes]
rs6825045	0.80[ASN][1000 genomes]
rs6828596	0.80[ASN][1000 genomes]
rs6844097	0.80[ASN][1000 genomes]
rs6845396	0.89[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs6850760	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs6852075	0.80[ASN][1000 genomes]
rs6856958	0.80[ASN][1000 genomes]
rs7436021	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436646	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs7665152	0.80[ASN][1000 genomes]
rs7670789	0.80[ASN][1000 genomes]
rs7674409	0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs7679177	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7684461	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs8878	1.00[CHB][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs9307050	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884374	0.80[ASN][1000 genomes]
rs9992952	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9995007	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs6826085	NAAA	cis	cerebellum	SCAN
rs6826085	NAAA	cis	Esophagus Muscularis	GTEx
rs6826085	ASAHL	cis	multi-tissue	Pritchard
rs6826085	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs6826085	NAAA	cis	parietal	SCAN
rs6826085	NAAA	cis	Lymphoblastoid	GTEx
rs6826085	NAAA	cis	Heart Left Ventricle	GTEx
rs6826085	NAAA	cis	Adipose Subcutaneous	GTEx
rs6826085	NAAA	cis	Artery Tibial	GTEx
rs6826085	NAAA	cis	Nerve Tibial	GTEx
rs6826085	NAAA	cis	Muscle Skeletal	GTEx
rs6826085	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs6826085	NAAA	cis	Whole Blood	GTEx
rs6826085	NAAA	cis	Artery Aorta	GTEx
rs6826085	ART3	cis	Nerve Tibial	GTEx
rs6826085	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs6826085	NAAA	cis	Esophagus Mucosa	GTEx
rs6826085	NAAA	cis	lung	GTEx
rs6826085	CXCL10	cis	lymphoblastoid	seeQTL
rs6826085	NAAA	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76871600	Weak transcription	Fetal Kidney	kidney
2	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
3	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
4	chr4:76862200-76871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76862200-76871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:76862200-76875200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:76862200-76876400	Weak transcription	Gastric	stomach
8	chr4:76862200-76876600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:76862400-76873400	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:76862400-76875400	Weak transcription	Spleen	Spleen
12	chr4:76862400-76876600	Weak transcription	Aorta	Aorta
13	chr4:76862400-76876600	Weak transcription	Small Intestine	intestine
14	chr4:76862600-76870600	Weak transcription	Brain Substantia Nigra	brain
15	chr4:76862600-76870800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:76862600-76871000	Weak transcription	Brain Angular Gyrus	brain
17	chr4:76862600-76871000	Weak transcription	Brain Anterior Caudate	brain
18	chr4:76862600-76871400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:76862600-76871400	Weak transcription	Right Ventricle	heart
20	chr4:76862600-76871600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:76862600-76872000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:76862600-76872000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:76862600-76873200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:76862600-76873400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:76862600-76873400	Weak transcription	NHLF	lung
26	chr4:76862600-76873600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:76862600-76874400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:76862600-76876000	Weak transcription	Psoas Muscle	Psoas
29	chr4:76862600-76876400	Weak transcription	Esophagus	oesophagus
30	chr4:76862600-76876400	Weak transcription	Fetal Brain Male	brain
31	chr4:76862600-76876400	Weak transcription	Pancreas	Pancrea
32	chr4:76862600-76876800	Weak transcription	Hela-S3	cervix
33	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:76863800-76884600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:76864600-76884800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:76864800-76875200	Strong transcription	HSMM	muscle
37	chr4:76864800-76883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:76864800-76884400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:76864800-76884600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:76866200-76883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:76866400-76886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:76866600-76883000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:76867400-76874000	Strong transcription	Brain Hippocampus Middle	brain
45	chr4:76867400-76875200	Strong transcription	NHDF-Ad	bronchial
46	chr4:76867400-76882600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr4:76867400-76882800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:76867400-76883000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr4:76867400-76883200	Strong transcription	Osteobl	bone
50	chr4:76867400-76885600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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