Variant report

Variant	rs562478138
Chromosome Location	chr6:166797170-166797171
allele	C/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	POLR2A	chr6:166795215-166797378	K562	blood:	n/a	n/a
3	E2F4	chr6:166796207-166797476	MCF10A-Er-Src	breast:	n/a	chr6:166796616-166796625 chr6:166796593-166796605 chr6:166796827-166796836 chr6:166796592-166796603
4	SIN3AK20	chr6:166795848-166797290	K562	blood:	n/a	n/a
5	STAT5A	chr6:166796030-166797477	GM12878	blood:	n/a	chr6:166796949-166796969
6	ZBTB7A	chr6:166795347-166797515	ECC-1	luminal epithelium:	n/a	chr6:166796136-166796144
7	MAZ	chr6:166795132-166797512	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
8	TAF1	chr6:166796227-166797316	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr6:166795170-166797425	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
10	ZBTB7A	chr6:166795332-166797300	K562	blood:	n/a	chr6:166796136-166796144
11	POLR2A	chr6:166796125-166797312	H1-neurons	neurons:	n/a	n/a
12	STAT5A	chr6:166796962-166797408	GM12878	blood:	n/a	n/a
13	RELA	chr6:166796184-166797345	GM15510	blood:	n/a	n/a
14	MXI1	chr6:166796230-166797254	K562	blood:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
15	POLR2A	chr6:166796181-166797434	K562	blood:	n/a	n/a
16	CHD1	chr6:166796680-166797442	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:166796136-166797917	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
19	RAD21	chr6:166796750-166797186	H1-hESC	embryonic stem cell:	n/a	chr6:166797093-166797107
20	MAX	chr6:166796206-166797351	MCF-7	breast:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
21	POLR2A	chr6:166796185-166797460	K562	blood:	n/a	n/a
22	PAX5	chr6:166797032-166797259	GM12878	blood:	n/a	chr6:166797174-166797183
23	MYC	chr6:166796325-166797412	MCF10A-Er-Src	breast:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
24	CTCF	chr6:166796332-166797551	GM12878	blood:	n/a	chr6:166796776-166796784
25	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
26	CHD2	chr6:166796313-166797263	K562	blood:	n/a	n/a
27	POLR2A	chr6:166796232-166797542	K562	blood:	n/a	n/a
28	BHLHE40	chr6:166796185-166797343	HepG2	liver:	n/a	chr6:166796445-166796461 chr6:166796987-166797003 chr6:166796619-166796635
29	NR2F2	chr6:166796293-166797186	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:166796155-166797295	ProgFib	skin:	n/a	n/a
31	SIN3A	chr6:166795266-166797408	GM12878	blood:	n/a	chr6:166796646-166796659 chr6:166796181-166796194 chr6:166796912-166796921
32	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
33	PML	chr6:166796130-166797414	K562	blood:	n/a	n/a
34	MXI1	chr6:166796248-166797205	Hela-S3	cervix:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
35	PAX5	chr6:166796051-166797243	GM12892	blood:	n/a	chr6:166797174-166797183
36	ETS1	chr6:166795974-166797233	K562	blood:	n/a	n/a
37	POLR2A	chr6:166796088-166797364	GM19099	blood:	n/a	n/a
38	POLR2A	chr6:166796258-166797455	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:166795919-166797312	GM15510	blood:	n/a	n/a
40	POLR2A	chr6:166796273-166797286	HCT-116	colon:	n/a	n/a
41	YY1	chr6:166795950-166797246	HepG2	liver:	n/a	chr6:166796619-166796633 chr6:166796620-166796634 chr6:166796616-166796625 chr6:166796877-166796891 chr6:166796988-166797002 chr6:166796827-166796836
42	EP300	chr6:166796099-166797535	ECC-1	luminal epithelium:	n/a	chr6:166796621-166796630 chr6:166797061-166797077
43	MAX	chr6:166796237-166797340	A549	lung:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
44	POLR2A	chr6:166796234-166797237	HCT-116	colon:	n/a	n/a
45	HEY1	chr6:166796161-166797763	HepG2	liver:	n/a	chr6:166796785-166796800
46	TBP	chr6:166796175-166797405	K562	blood:	n/a	n/a
47	ZNF263	chr6:166796207-166797351	HEK293-T-REx	kidney:	n/a	chr6:166796590-166796599
48	MXI1	chr6:166796096-166797609	IMR90	lung:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
49	POLR2A	chr6:166796268-166797261	HepG2	liver:	n/a	n/a
50	ZNF143	chr6:166796211-166797448	GM12878	blood:	n/a	chr6:166796695-166796713 chr6:166796654-166796664

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:166797128-166797178	Hela-S3	cervix:	n/a
2	chr6:166797128-166797178	AG09309	skin:	n/a
3	chr6:166797128-166797178	SK-N-MC	brain:	n/a
4	chr6:166797128-166797178	H1-hESC	embryonic stem cell:	embryo
5	chr6:166797125-166797175	HL-60	blood:	n/a
6	chr6:166797125-166797175	AG04449	skin:	fetal
7	chr6:166797128-166797178	AG10803	skin:	n/a
8	chr6:166797125-166797175	Jurkat	blood:	n/a
9	chr6:166797125-166797175	PANC-1	pancreas:	n/a
10	chr6:166797125-166797175	HCT-116	colon:	n/a
11	chr6:166797125-166797175	HRE	kidney:	n/a
12	chr6:166797120-166797170	H1-hESC	embryonic stem cell:	embryo
13	chr6:166797128-166797178	NHBE	bronchial:	n/a
14	chr6:166797128-166797178	SKMC	muscle:	n/a
15	chr6:166797120-166797170	HCF	heart:	n/a
16	chr6:166797125-166797175	PrEC	prostate:	n/a
17	chr6:166797125-166797175	HUVEC	blood vessel:	n/a
18	chr6:166797120-166797170	HCPEpiC	choroid plexus:	n/a
19	chr6:166797125-166797175	RPTEC	kidney:	n/a
20	chr6:166797128-166797178	ProgFib	skin:	n/a
21	chr6:166797125-166797175	AG09319	gingival:	n/a
22	chr6:166797128-166797178	Hepatocyte	liver:	n/a
23	chr6:166797120-166797170	HRCEpiC	kidney:	n/a
24	chr6:166797120-166797170	AoSMC	blood vessel:	n/a
25	chr6:166797120-166797170	GM12878	blood:	n/a
26	chr6:166797120-166797170	Jurkat	blood:	n/a
27	chr6:166797125-166797175	SAEC	small airway:	n/a
28	chr6:166797120-166797170	Hepatocyte	liver:	n/a
29	chr6:166797125-166797175	HRCEpiC	kidney:	n/a
30	chr6:166797125-166797175	GM12892	blood:	n/a
31	chr6:166797128-166797178	GM19239	blood:	n/a
32	chr6:166797128-166797178	HEK293	kidney:	embryo
33	chr6:166797120-166797170	GM06990	blood:	n/a
34	chr6:166797128-166797178	HIPEpiC	eye:	n/a
35	chr6:166797128-166797178	GM12878	blood:	n/a
36	chr6:166797120-166797170	SAEC	small airway:	n/a
37	chr6:166797120-166797170	ovcar-3	ovarian:	n/a
38	chr6:166797120-166797170	LNCaP	prostate:	n/a
39	chr6:166797128-166797178	IMR90	lung:	fetal
40	chr6:166797125-166797175	ovcar-3	ovarian:	n/a
41	chr6:166797128-166797178	HUVEC	blood vessel:	n/a
42	chr6:166797128-166797178	HMEC	breast:	n/a
43	chr6:166797125-166797175	Hela-S3	cervix:	n/a
44	chr6:166797125-166797175	HIPEpiC	eye:	n/a
45	chr6:166797125-166797175	LNCaP	prostate:	n/a
46	chr6:166797128-166797178	AG04450	lung:	fetal
47	chr6:166797125-166797175	GM12878	blood:	n/a
48	chr6:166797128-166797178	HCT-116	colon:	n/a
49	chr6:166797120-166797170	GM12891	blood:	n/a
50	chr6:166797125-166797175	AG10803	skin:	n/a

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
MPC1	CpG island
ENSG00000198818	Chromatin interaction
ENSG00000233231	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3422353	chr6:166794787-166797335	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription 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
5	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
6	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
7	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
8	esv3343979	chr6:166797137-166797365	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
9	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
10	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
16	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
17	chr6:166794800-166797600	Active TSS	K562	blood
18	chr6:166794800-166797600	Active TSS	NHLF	lung
19	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
23	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:166795000-166797200	Active TSS	Primary B cells from peripheral blood	blood
25	chr6:166795000-166797200	Active TSS	Fetal Lung	lung
26	chr6:166795000-166797200	Active TSS	Dnd41	blood
27	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
29	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:166795000-166797600	Active TSS	Aorta	Aorta
33	chr6:166795000-166797600	Active TSS	Ovary	ovary
34	chr6:166795000-166797600	Active TSS	A549	lung
35	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
36	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine
40	chr6:166795000-166797800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:166795000-166798000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:166795000-166798000	Active TSS	Brain Hippocampus Middle	brain
43	chr6:166795000-166798000	Active TSS	Colonic Mucosa	Colon
44	chr6:166795000-166798000	Active TSS	Hela-S3	cervix
45	chr6:166795200-166797200	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr6:166795200-166797400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:166795200-166797400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr6:166795200-166797400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:166795200-166797400	Active TSS	Colon Smooth Muscle	Colon
50	chr6:166795200-166797600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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