Variant report

Variant	rs9295342
Chromosome Location	chr6:166801130-166801131
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	CEBPB	chr6:166801054-166801915	HepG2	liver:	n/a	chr6:166801129-166801140 chr6:166801579-166801590
2	HDAC2	chr6:166800983-166801896	HepG2	liver:	n/a	n/a
3	HEY1	chr6:166800845-166801958	HepG2	liver:	n/a	n/a
4	MYBL2	chr6:166800722-166802029	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:166800937-166801862	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:166800701-166802269	HepG2	liver:	n/a	n/a
7	RFX5	chr6:166800979-166801697	HepG2	liver:	n/a	n/a
8	EP300	chr6:166801059-166801721	HepG2	liver:	n/a	n/a
9	NR2F2	chr6:166800882-166801962	HepG2	liver:	n/a	n/a
10	SP1	chr6:166800865-166801879	HepG2	liver:	n/a	n/a
11	MYBL2	chr6:166800784-166801910	HepG2	liver:	n/a	n/a
12	JUND	chr6:166801006-166801780	HepG2	liver:	n/a	chr6:166801472-166801484
13	FOXA1	chr6:166800906-166801926	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:166800894-166801933	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:166800885-166801929	HepG2	liver:	n/a	n/a
16	HDAC2	chr6:166801093-166801851	HepG2	liver:	n/a	n/a
17	TBP	chr6:166800976-166801765	HepG2	liver:	n/a	n/a
18	HNF4G	chr6:166801093-166801837	HepG2	liver:	n/a	chr6:166801255-166801262 chr6:166801251-166801267
19	RXRA	chr6:166800990-166801929	HepG2	liver:	n/a	chr6:166801251-166801267
20	TEAD4	chr6:166800738-166801961	HepG2	liver:	n/a	n/a
21	HNF4A	chr6:166801107-166801813	HepG2	liver:	n/a	chr6:166801255-166801262 chr6:166801251-166801267
22	MBD4	chr6:166800866-166802027	HepG2	liver:	n/a	n/a
23	EP300	chr6:166800907-166801826	HepG2	liver:	n/a	chr6:166801764-166801780
24	REST	chr6:166801084-166801881	HepG2	liver:	n/a	chr6:166801763-166801773
25	ARID3A	chr6:166800898-166801916	HepG2	liver:	n/a	n/a
26	MAX	chr6:166800772-166801936	HepG2	liver:	n/a	n/a
27	FOXA2	chr6:166800887-166801804	HepG2	liver:	n/a	n/a
28	FOXA2	chr6:166800817-166801861	HepG2	liver:	n/a	n/a
29	FOXA1	chr6:166800920-166801861	HepG2	liver:	n/a	n/a
30	NFIC	chr6:166800747-166801923	HepG2	liver:	n/a	n/a
31	FOXA1	chr6:166800995-166801860	HepG2	liver:	n/a	n/a
32	NFIC	chr6:166800994-166801949	HepG2	liver:	n/a	n/a
33	NR2F2	chr6:166800780-166802084	HepG2	liver:	n/a	n/a
34	MBD4	chr6:166800795-166801995	HepG2	liver:	n/a	n/a
35	RAD21	chr6:166800995-166801763	HepG2	liver:	n/a	n/a
36	EP300	chr6:166800889-166801884	HepG2	liver:	n/a	chr6:166801764-166801780

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166752914..166754898-chr6:166799719..166801718,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFR1OP-2	chr6:166796964-166802453	NONHSAT116046

Variant related genes	Relation type
MPC1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1546853	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546854	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1546855	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1569459	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569460	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1569461	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1977049	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977050	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1977051	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1977052	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1977053	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1977054	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1977056	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1997661	0.85[ASN][1000 genomes]
rs2179177	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2343591	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3734605	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3757194	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757195	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305699	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4710043	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456078	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6456079	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6456081	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902813	0.85[ASN][1000 genomes]
rs6905635	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906844	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912695	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6918091	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6918135	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735297	0.85[ASN][1000 genomes]
rs7449629	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744743	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7752716	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9283865	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295338	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9295341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295343	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295344	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9295345	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348123	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9348124	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348125	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348126	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9355574	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9355575	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9356482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9356483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9364845	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9364846	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9364847	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9364848	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366009	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366010	0.82[AMR][1000 genomes];0.90[EUR][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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv523548	chr6:166796433-166819774	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166797400-166801600	Weak transcription	Lung	lung
2	chr6:166797600-166801600	Weak transcription	Brain Germinal Matrix	brain
3	chr6:166797600-166801600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:166797600-166803000	Weak transcription	Brain Substantia Nigra	brain
5	chr6:166797600-166804200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:166797600-166808200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:166797600-166835800	Weak transcription	Right Atrium	heart
8	chr6:166797800-166801200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:166797800-166801200	Weak transcription	Fetal Brain Female	brain
10	chr6:166797800-166802200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:166797800-166803800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:166797800-166804000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:166798000-166801200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:166798000-166801200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:166798000-166802400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:166798000-166803000	Weak transcription	Pancreas	Pancrea
17	chr6:166798000-166803200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:166798000-166812200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:166798200-166801200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:166800800-166802400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:166801000-166801600	Flanking Active TSS	Liver	Liver
22	chr6:166801000-166801600	Enhancers	Fetal Intestine Small	intestine
23	chr6:166801000-166802000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:166801000-166802000	Enhancers	Adipose Nuclei	Adipose
25	chr6:166801000-166803000	Flanking Active TSS	HepG2	liver

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