Variant report

Variant	rs6991731
Chromosome Location	chr8:66555467-66555468
allele	A/G
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	POLR2A	chr8:66555359-66557962	K562	blood:	n/a	n/a
2	JUND	chr8:66555381-66557678	K562	blood:	n/a	chr8:66556224-66556233 chr8:66556939-66556948
3	TBL1XR1	chr8:66555456-66556189	K562	blood:	n/a	n/a
4	MXI1	chr8:66555317-66557883	SK-N-SH	brain:	n/a	n/a
5	SMC3	chr8:66555263-66557695	SK-N-SH	brain:	n/a	chr8:66557372-66557386 chr8:66557376-66557386
6	MAX	chr8:66555008-66555494	K562	blood:	n/a	n/a
7	GATA1	chr8:66555439-66557411	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66540570..66542467-chr8:66555055..66556755,2	MCF-7	breast:
2	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
3	chr8:66552932..66555499-chr8:66560225..66562649,2	MCF-7	breast:
4	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:
5	chr8:66555236..66558809-chr8:66619620..66621771,3	K562	blood:

Variant related genes	Relation type
MTFR1	TF binding region
ENSG00000066855	Chromatin interaction
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10087361	0.86[ASN][1000 genomes]
rs10089029	0.86[ASN][1000 genomes]
rs10089708	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092109	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10097461	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10100131	0.84[EUR][1000 genomes]
rs10102473	0.86[CHB][hapmap]
rs10504388	0.91[CHB][hapmap]
rs1053085	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1053087	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1053088	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10808746	0.82[CHB][hapmap]
rs10957361	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11559265	0.87[ASN][1000 genomes]
rs11776709	0.80[ASN][1000 genomes]
rs11985628	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11990855	0.84[ASN][1000 genomes]
rs12335006	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12335276	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12543053	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12544767	0.81[ASN][1000 genomes]
rs12677419	0.84[ASN][1000 genomes]
rs12678467	0.84[ASN][1000 genomes]
rs13252358	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13266834	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13267942	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13268343	1.00[CEU][hapmap]
rs13281155	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs14213	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1473601	0.86[ASN][1000 genomes]
rs1533285	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16932245	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16932250	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16932286	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs17394860	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1877638	0.81[ASN][1000 genomes]
rs2048650	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2102648	0.82[ASN][1000 genomes]
rs2175809	0.84[ASN][1000 genomes]
rs2175810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357476	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28415299	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28576524	0.84[ASN][1000 genomes]
rs28613797	0.86[ASN][1000 genomes]
rs3268	0.84[ASN][1000 genomes]
rs34226237	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34494846	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34533611	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34851482	0.84[ASN][1000 genomes]
rs35038843	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35790435	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35941313	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3750184	0.84[ASN][1000 genomes]
rs3765205	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3812412	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4275254	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320587	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4384017	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4388482	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4397444	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4637885	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4637886	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737220	0.83[CHB][hapmap]
rs4737222	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737747	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737748	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737749	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4737750	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5018458	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57419568	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60023200	0.82[EUR][1000 genomes]
rs60058315	0.84[ASN][1000 genomes]
rs6472213	0.84[ASN][1000 genomes]
rs6472215	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6472216	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6472217	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6472218	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66467166	0.82[EUR][1000 genomes]
rs66486920	0.82[EUR][1000 genomes]
rs67046768	0.82[EUR][1000 genomes]
rs67131486	0.88[ASN][1000 genomes]
rs67202221	0.85[AFR][1000 genomes]
rs67685675	0.82[EUR][1000 genomes]
rs68075342	0.87[AFR][1000 genomes]
rs68167505	0.88[AFR][1000 genomes]
rs6983230	0.91[CHB][hapmap]
rs6985897	0.82[EUR][1000 genomes]
rs6985932	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6986691	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6986866	0.86[EUR][1000 genomes]
rs6993876	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6994213	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6995242	0.84[ASN][1000 genomes]
rs6997959	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006261	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7006648	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7006732	0.91[CHB][hapmap]
rs7007505	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7012578	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7012856	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7016472	0.84[ASN][1000 genomes]
rs71930161	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72666512	0.86[AFR][1000 genomes]
rs73236948	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73236986	0.86[ASN][1000 genomes]
rs73239011	0.86[ASN][1000 genomes]
rs73239047	0.84[AFR][1000 genomes]
rs73239052	0.83[AFR][1000 genomes]
rs73239085	0.85[ASN][1000 genomes]
rs7459737	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7464223	0.82[ASN][1000 genomes]
rs7812390	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7812446	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7814841	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815488	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7817112	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7823840	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7832407	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833031	0.82[CHB][hapmap]
rs7835313	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836349	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7836746	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7841652	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7842162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs7846527	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6991731	CTD-3025N20.3	cis	Thyroid	GTEx
rs6991731	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs6991731	CTD-3025N20.3	cis	lung	GTEx
rs6991731	CTD-3025N20.3	cis	Nerve Tibial	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66546400-66556000	Weak transcription	Small Intestine	intestine
2	chr8:66547000-66555800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:66547400-66556000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:66549400-66555600	Weak transcription	Hela-S3	cervix
5	chr8:66549600-66555600	Weak transcription	A549	lung
6	chr8:66552400-66555600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:66553600-66555600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:66554200-66555600	Weak transcription	GM12878-XiMat	blood
9	chr8:66555000-66555600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:66555000-66555800	Weak transcription	Spleen	Spleen
11	chr8:66555200-66555600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:66555200-66555600	Enhancers	HMEC	breast
13	chr8:66555200-66555600	Enhancers	K562	blood
14	chr8:66555200-66556000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:66555200-66556000	Enhancers	Lung	lung
16	chr8:66555400-66555600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:66555400-66555600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:66555400-66555600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:66555400-66555600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:66555400-66555600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:66555400-66555600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:66555400-66555600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:66555400-66555600	Enhancers	Adipose Nuclei	Adipose
24	chr8:66555400-66555600	Enhancers	Brain Anterior Caudate	brain
25	chr8:66555400-66555600	Enhancers	Fetal Intestine Large	intestine
26	chr8:66555400-66555600	Enhancers	Fetal Intestine Small	intestine
27	chr8:66555400-66555600	Enhancers	Placenta	Placenta
28	chr8:66555400-66555600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:66555400-66555600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:66555400-66555600	Active TSS	NHEK	skin
31	chr8:66555400-66555600	Enhancers	Osteobl	bone
32	chr8:66555400-66555800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:66555400-66555800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:66555400-66555800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:66555400-66555800	Enhancers	Liver	Liver
36	chr8:66555400-66555800	Weak transcription	Pancreas	Pancrea
37	chr8:66555400-66555800	Enhancers	Stomach Mucosa	stomach
38	chr8:66555400-66555800	Active TSS	HepG2	liver
39	chr8:66555400-66556000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:66555400-66556000	Enhancers	Primary B cells from peripheral blood	blood
41	chr8:66555400-66556000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
42	chr8:66555400-66556200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:66555400-66556400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr8:66555400-66556800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:66555400-66558200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr8:66555400-66558600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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