Variant report

Variant	rs565739330
Chromosome Location	chr6:166797590-166797591
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	NFIC	chr6:166796154-166797783	GM12878	blood:	n/a	n/a
2	CEBPB	chr6:166797474-166797819	K562	blood:	n/a	chr6:166797642-166797653
3	POLR2A	chr6:166796136-166797917	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
5	CEBPB	chr6:166797481-166797711	H1-hESC	embryonic stem cell:	n/a	chr6:166797642-166797653
6	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
8	HEY1	chr6:166796161-166797763	HepG2	liver:	n/a	chr6:166796785-166796800
9	MXI1	chr6:166796096-166797609	IMR90	lung:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
10	CEBPB	chr6:166797513-166797711	IMR90	lung:	n/a	chr6:166797642-166797653
11	POLR2A	chr6:166796555-166797620	HepG2	liver:	n/a	n/a
12	MYBL2	chr6:166796100-166797635	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:166796141-166797612	PFSK-1	brain:	n/a	n/a
14	RUNX3	chr6:166796184-166797592	GM12878	blood:	n/a	chr6:166796948-166796963
15	MYBL2	chr6:166795143-166797688	HepG2	liver:	n/a	n/a
16	CTCF	chr6:166797460-166797610	NHLF	lung:	n/a	n/a
17	MAX	chr6:166795193-166797593	HepG2	liver:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
18	TEAD4	chr6:166796981-166797899	HepG2	liver:	n/a	n/a
19	CEBPB	chr6:166797537-166797739	HepG2	liver:	n/a	chr6:166797642-166797653
20	CEBPB	chr6:166797504-166797721	K562	blood:	n/a	chr6:166797642-166797653
21	CEBPB	chr6:166797528-166797658	A549	lung:	n/a	chr6:166797642-166797653
22	MXI1	chr6:166794850-166797629	SK-N-SH	brain:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
23	MAX	chr6:166796127-166797590	HCT-116	colon:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
24	CREB1	chr6:166796172-166797598	HepG2	liver:	n/a	n/a
25	CEBPB	chr6:166797516-166797728	HepG2	liver:	n/a	chr6:166797642-166797653
26	CBX3	chr6:166796163-166797683	K562	blood:	n/a	n/a
27	ELF1	chr6:166797316-166797682	GM12878	blood:	n/a	n/a
28	CEBPB	chr6:166797188-166797727	Hela-S3	cervix:	n/a	chr6:166797642-166797653
29	CEBPB	chr6:166797499-166797808	HepG2	liver:	n/a	chr6:166797642-166797653

No.	Distal block	Cell Line	Cell type
1	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
2	chr6:166746293..166747904-chr6:166796894..166799021,2	K562	blood:
3	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
4	chr6:166754173..166757774-chr6:166795355..166798060,3	MCF-7	breast:
5	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
6	chr6:166740985..166743870-chr6:166796738..166798607,2	MCF-7	breast:
7	chr6:166796680..166799689-chr6:166808021..166810118,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFR1OP-2	chr6:166796677-166798312	ENSG00000261420.1
2	lnc-FGFR1OP-2	chr6:166796964-166802453	NONHSAT116046

Variant related genes	Relation type
MPC1	TF binding region
ENSG00000198818	Chromatin interaction
ENSG00000233231	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3376653	chr6:166783590-166798116	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3329582	chr6:166795187-166797735	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3340680	chr6:166795587-166798135	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
2	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
5	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
6	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
7	chr6:166794600-166797800	Active TSS	NHEK	skin
8	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
14	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
15	chr6:166794800-166797600	Active TSS	K562	blood
16	chr6:166794800-166797600	Active TSS	NHLF	lung
17	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
21	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
22	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:166795000-166797600	Active TSS	Aorta	Aorta
25	chr6:166795000-166797600	Active TSS	Ovary	ovary
26	chr6:166795000-166797600	Active TSS	A549	lung
27	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
28	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine
32	chr6:166795000-166797800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr6:166795000-166798000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:166795000-166798000	Active TSS	Brain Hippocampus Middle	brain
35	chr6:166795000-166798000	Active TSS	Colonic Mucosa	Colon
36	chr6:166795000-166798000	Active TSS	Hela-S3	cervix
37	chr6:166795200-166797600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:166795200-166797600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr6:166795200-166797600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr6:166795200-166797600	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr6:166795200-166797600	Active TSS	Liver	Liver
42	chr6:166795200-166797600	Active TSS	Brain Substantia Nigra	brain
43	chr6:166795200-166797600	Active TSS	Fetal Kidney	kidney
44	chr6:166795200-166797600	Active TSS	Left Ventricle	heart
45	chr6:166795200-166797600	Active TSS	Stomach Smooth Muscle	stomach
46	chr6:166795200-166797600	Active TSS	HSMM	muscle
47	chr6:166795200-166797800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr6:166795200-166797800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:166795200-166797800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:166795200-166797800	Active TSS	Fetal Brain Female	brain

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