Variant report

Variant	rs7696286
Chromosome Location	chr4:76875547-76875548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76863857..76865771-chr4:76874139..76877133,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10019066	0.85[JPT][hapmap]
rs10222911	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs1050176	0.97[ASN][1000 genomes]
rs10856871	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097192	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499668	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs12500200	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12504915	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs12509988	0.83[CEU][hapmap]
rs12509996	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs12511352	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs12511357	0.80[CEU][hapmap];0.85[CHB][hapmap]
rs12511359	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12511861	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13106039	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs1554015	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001275	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001284	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1910907	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869461	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.97[ASN][1000 genomes]
rs28703679	1.00[ASN][1000 genomes]
rs3733236	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4621456	0.83[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4859412	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55964684	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56039229	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56105413	1.00[EUR][1000 genomes]
rs56316945	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58909712	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59559903	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61279846	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532084	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6532167	0.83[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6532168	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs6532169	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap]
rs6532170	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs66477189	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67210456	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67297326	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67413521	0.85[ASN][1000 genomes]
rs67687266	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6828744	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834291	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847716	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857358	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72651379	0.92[EUR][1000 genomes]
rs72651387	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349626	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666094	0.83[CEU][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap]
rs7670156	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7671125	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679689	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs7685390	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs7692605	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs7693606	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs9998233	0.83[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.88[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7696286	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs7696286	NAAA	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
2	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
3	chr4:76862200-76876400	Weak transcription	Gastric	stomach
4	chr4:76862200-76876600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:76862400-76876600	Weak transcription	Aorta	Aorta
7	chr4:76862400-76876600	Weak transcription	Small Intestine	intestine
8	chr4:76862600-76876000	Weak transcription	Psoas Muscle	Psoas
9	chr4:76862600-76876400	Weak transcription	Esophagus	oesophagus
10	chr4:76862600-76876400	Weak transcription	Fetal Brain Male	brain
11	chr4:76862600-76876400	Weak transcription	Pancreas	Pancrea
12	chr4:76862600-76876800	Weak transcription	Hela-S3	cervix
13	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:76863800-76884600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:76864600-76884800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:76864800-76883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:76864800-76884400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:76864800-76884600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:76866200-76883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:76866400-76886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:76866600-76883000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:76867400-76882600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr4:76867400-76882800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:76867400-76883000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:76867400-76883200	Strong transcription	Osteobl	bone
27	chr4:76867400-76885600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:76867400-76886600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:76867800-76882800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:76867800-76883000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:76867800-76883200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr4:76867800-76883400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr4:76867800-76884600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:76867800-76888800	Strong transcription	Liver	Liver
35	chr4:76867800-76900000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:76867800-76903800	Strong transcription	Fetal Thymus	thymus
37	chr4:76868000-76882800	Strong transcription	Adipose Nuclei	Adipose
38	chr4:76868000-76882800	Strong transcription	Left Ventricle	heart
39	chr4:76868000-76883000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:76868000-76884600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:76868000-76884800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:76868000-76886400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:76868000-76886600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:76868000-76899800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:76868000-76903000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:76868000-76903000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr4:76868000-76903800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr4:76868200-76882800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:76868200-76903400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:76868200-76903600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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