Variant report

Variant	rs7835313
Chromosome Location	chr8:66546126-66546127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66543785..66546210-chr8:66562044..66563717,2	K562	blood:
2	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
3	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066855	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10087361	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10089029	1.00[ASN][1000 genomes]
rs10089708	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10092109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097461	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10100131	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10110985	0.83[ASN][1000 genomes]
rs1053085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053088	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776709	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11776712	0.91[ASN][1000 genomes]
rs11985628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12335006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12335276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543053	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544767	0.95[ASN][1000 genomes]
rs12677419	0.98[ASN][1000 genomes]
rs12678467	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13252358	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13266834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13267942	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13268343	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13281155	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs14213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1533285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932245	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932250	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932314	0.94[ASN][1000 genomes]
rs1877638	0.95[ASN][1000 genomes]
rs2048650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102648	0.97[ASN][1000 genomes]
rs2175809	0.98[ASN][1000 genomes]
rs2175810	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357476	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28415299	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28576524	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28613797	1.00[ASN][1000 genomes]
rs3268	0.99[ASN][1000 genomes]
rs34226237	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34494846	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34533611	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34851482	0.98[ASN][1000 genomes]
rs35038843	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35790435	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35941313	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750184	0.99[ASN][1000 genomes]
rs3765205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4320587	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4384016	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4384017	0.84[ASN][1000 genomes]
rs4388482	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4397444	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4637885	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4637886	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018458	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57419568	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60023200	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60058315	0.99[ASN][1000 genomes]
rs6472210	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs6472213	0.99[ASN][1000 genomes]
rs6472214	0.88[ASN][1000 genomes]
rs6472215	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6472216	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472217	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6472218	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66467166	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66486920	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67046768	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67131486	0.95[ASN][1000 genomes]
rs67685675	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985897	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6985932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986445	0.82[AMR][1000 genomes]
rs6986691	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986866	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6991731	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6993876	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994213	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995242	0.99[ASN][1000 genomes]
rs6997959	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006648	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007505	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011464	0.87[CHB][hapmap]
rs7012578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012856	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs71930161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236948	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73236986	1.00[ASN][1000 genomes]
rs73239011	1.00[ASN][1000 genomes]
rs73239085	0.99[ASN][1000 genomes]
rs7459737	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464123	0.92[ASN][1000 genomes]
rs7464223	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7812390	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812446	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815488	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817112	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832407	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836746	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841652	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842162	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846527	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs953593	0.87[CHB][hapmap]

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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7835313	CTD-3025N20.3	cis	Thyroid	GTEx
rs7835313	CTD-3025N20.3	cis	Esophagus Muscularis	GTEx
rs7835313	CTD-3025N20.3	cis	lung	GTEx
rs7835313	ARMC1	cis	multi-tissue	Pritchard
rs7835313	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs7835313	CTD-3025N20.3	cis	Muscle Skeletal	GTEx
rs7835313	CTD-3025N20.3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66545000-66546200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:66545000-66547600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:66545000-66547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:66545200-66546200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr8:66545200-66546200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr8:66545200-66547000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:66545200-66547400	Active TSS	Psoas Muscle	Psoas
8	chr8:66545200-66547600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:66545200-66547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr8:66545200-66547600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:66545400-66546200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr8:66545400-66546200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:66545400-66547200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:66545400-66547200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:66545400-66547200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:66545400-66547200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:66545400-66547200	Active TSS	HSMMtube	muscle
18	chr8:66545400-66547400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr8:66545400-66547400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:66545400-66547400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:66545400-66547400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr8:66545400-66547400	Active TSS	Fetal Kidney	kidney
23	chr8:66545400-66547400	Active TSS	Fetal Muscle Trunk	muscle
24	chr8:66545400-66547600	Active TSS	K562	blood
25	chr8:66545600-66546200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr8:66545600-66546200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr8:66545600-66546200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:66545600-66546400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:66545600-66546400	Active TSS	Small Intestine	intestine
30	chr8:66545600-66546800	Active TSS	Esophagus	oesophagus
31	chr8:66545600-66546800	Active TSS	Lung	lung
32	chr8:66545600-66547000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:66545600-66547000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:66545600-66547000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr8:66545600-66547000	Active TSS	Placenta Amnion	Placenta Amnion
36	chr8:66545600-66547200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:66545600-66547200	Active TSS	Fetal Intestine Small	intestine
38	chr8:66545600-66547200	Active TSS	GM12878-XiMat	blood
39	chr8:66545600-66547400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:66545600-66547400	Active TSS	NHLF	lung
41	chr8:66545600-66547600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:66545600-66547600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:66545600-66547600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:66545600-66547600	Active TSS	HSMM	muscle
45	chr8:66545600-66547800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:66545600-66549400	Active TSS	A549	lung
47	chr8:66545800-66546800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:66545800-66546800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:66545800-66546800	Active TSS	Gastric	stomach
50	chr8:66545800-66546800	Active TSS	Thymus	Thymus

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