Variant report

Variant	rs547879976
Chromosome Location	chr6:166797378-166797379
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:225)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:225 , 50 per page) page: 1 2 3 4 5

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	CTCF	chr6:166797280-166797430	GM12872	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	MAX	chr6:166795170-166797425	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
9	STAT5A	chr6:166796962-166797408	GM12878	blood:	n/a	n/a
10	CTCF	chr6:166797280-166797430	GM06990	blood:	n/a	n/a
11	POLR2A	chr6:166796181-166797434	K562	blood:	n/a	n/a
12	CTCF	chr6:166797300-166797450	GM12869	blood:	n/a	n/a
13	CTCF	chr6:166797240-166797390	HVMF	connective:	n/a	n/a
14	CTCF	chr6:166797320-166797470	GM12866	blood:	n/a	n/a
15	CHD1	chr6:166796680-166797442	GM12878	blood:	n/a	n/a
16	CTCF	chr6:166797280-166797430	HMF	breast:	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	POLR2A	chr6:166796185-166797460	K562	blood:	n/a	n/a
20	CTCF	chr6:166797240-166797390	GM12872	blood:	n/a	n/a
21	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
22	CTCF	chr6:166796332-166797551	GM12878	blood:	n/a	chr6:166796776-166796784
23	PBX3	chr6:166797319-166797488	GM12878	blood:	n/a	n/a
24	CTCF	chr6:166797360-166797510	GM12873	blood:	n/a	n/a
25	CTCF	chr6:166797280-166797430	GM12878	blood:	n/a	n/a
26	CTCF	chr6:166797340-166797490	HEK293	kidney:	n/a	n/a
27	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:166796232-166797542	K562	blood:	n/a	n/a
29	CTCF	chr6:166797284-166797482	HepG2	liver:	n/a	n/a
30	SIN3A	chr6:166795266-166797408	GM12878	blood:	n/a	chr6:166796646-166796659 chr6:166796181-166796194 chr6:166796912-166796921
31	CTCF	chr6:166797237-166797462	IMR90	lung:	n/a	n/a
32	CTCF	chr6:166797280-166797430	GM12874	blood:	n/a	n/a
33	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
34	PML	chr6:166796130-166797414	K562	blood:	n/a	n/a
35	CTCF	chr6:166797280-166797430	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr6:166797360-166797510	AG10803	skin:	n/a	n/a
37	CTCF	chr6:166797340-166797490	SAEC	small airway:	n/a	n/a
38	CTCF	chr6:166797280-166797430	AG10803	skin:	n/a	n/a
39	CTCF	chr6:166797320-166797470	A549	lung:	n/a	n/a
40	POLR2A	chr6:166796258-166797455	HepG2	liver:	n/a	n/a
41	EP300	chr6:166796099-166797535	ECC-1	luminal epithelium:	n/a	chr6:166796621-166796630 chr6:166797061-166797077
42	HEY1	chr6:166796161-166797763	HepG2	liver:	n/a	chr6:166796785-166796800
43	CTCF	chr6:166797280-166797430	AoAF	blood vessel:	n/a	n/a
44	TBP	chr6:166796175-166797405	K562	blood:	n/a	n/a
45	MXI1	chr6:166796096-166797609	IMR90	lung:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
46	CTCF	chr6:166797280-166797430	GM12875	blood:	n/a	n/a
47	CTCF	chr6:166797280-166797430	HCM	heart:	n/a	n/a
48	ZNF143	chr6:166796211-166797448	GM12878	blood:	n/a	chr6:166796695-166796713 chr6:166796654-166796664
49	TRIM28	chr6:166796123-166797480	K562	blood:	n/a	n/a
50	CTCF	chr6:166797280-166797430	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:166797367-166797417	SAEC	small airway:	n/a
2	chr6:166797367-166797417	HMEC	breast:	n/a
3	chr6:166797367-166797417	MCF10A-Er-Src	breast:	n/a
4	chr6:166797367-166797417	LNCaP	prostate:	n/a
5	chr6:166797367-166797417	AG04449	skin:	fetal
6	chr6:166797367-166797417	SK-N-SH	brain:	n/a
7	chr6:166797367-166797417	GM12878	blood:	n/a
8	chr6:166797367-166797417	AG09319	gingival:	n/a
9	chr6:166797367-166797417	AG10803	skin:	n/a
10	chr6:166797367-166797417	GM06990	blood:	n/a
11	chr6:166797367-166797417	GM19239	blood:	n/a
12	chr6:166797367-166797417	T-47D	breast:	n/a
13	chr6:166797367-166797417	H1-hESC	embryonic stem cell:	embryo
14	chr6:166797367-166797417	HCPEpiC	choroid plexus:	n/a
15	chr6:166797367-166797417	PFSK-1	brain:	n/a
16	chr6:166797367-166797417	HRPEpiC	eye:	n/a
17	chr6:166797367-166797417	ovcar-3	ovarian:	n/a
18	chr6:166797367-166797417	HCT-116	colon:	n/a
19	chr6:166797367-166797417	A549	lung:	n/a
20	chr6:166797367-166797417	K562	blood:	n/a
21	chr6:166797367-166797417	NHBE	bronchial:	n/a
22	chr6:166797367-166797417	SKMC	muscle:	n/a
23	chr6:166797367-166797417	AoSMC	blood vessel:	n/a
24	chr6:166797367-166797417	U87	brain:	n/a
25	chr6:166797367-166797417	HepG2	liver:	n/a
26	chr6:166797367-166797417	Jurkat	blood:	n/a
27	chr6:166797367-166797417	MCF-7	breast:	n/a
28	chr6:166797367-166797417	HRCEpiC	kidney:	n/a
29	chr6:166797367-166797417	HEEpiC	esophagus:	n/a
30	chr6:166797367-166797417	BJ	skin:	n/a
31	chr6:166797367-166797417	HCF	heart:	n/a
32	chr6:166797367-166797417	NT2-D1	testis:	n/a
33	chr6:166797367-166797417	PANC-1	pancreas:	n/a
34	chr6:166797367-166797417	BE2_C	brain:	n/a
35	chr6:166797367-166797417	CMK	blood:	n/a
36	chr6:166797367-166797417	RPTEC	kidney:	n/a
37	chr6:166797367-166797417	PrEC	prostate:	n/a
38	chr6:166797367-166797417	Caco-2	colon:	n/a
39	chr6:166797367-166797417	IMR90	lung:	fetal
40	chr6:166797367-166797417	ProgFib	skin:	n/a
41	chr6:166797367-166797417	HL-60	blood:	n/a
42	chr6:166797367-166797417	HPAEpiC	pulmonary alveolar:	n/a
43	chr6:166797367-166797417	HRE	kidney:	n/a
44	chr6:166797367-166797417	HCM	heart:	n/a
45	chr6:166797367-166797417	GM12892	blood:	n/a
46	chr6:166797367-166797417	GM12891	blood:	n/a
47	chr6:166797367-166797417	NH-A	brain:	n/a
48	chr6:166797367-166797417	Hela-S3	cervix:	n/a
49	chr6:166797367-166797417	HAEpiC	amniotic membrane:	n/a
50	chr6:166797367-166797417	Hepatocyte	liver:	n/a

(count:7 , 50 per page) page: 1

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:

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
MPC1	TF binding region
MPC1	CpG island
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: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	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
9	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
15	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
16	chr6:166794800-166797600	Active TSS	K562	blood
17	chr6:166794800-166797600	Active TSS	NHLF	lung
18	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
22	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
23	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
25	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
26	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:166795000-166797600	Active TSS	Aorta	Aorta
29	chr6:166795000-166797600	Active TSS	Ovary	ovary
30	chr6:166795000-166797600	Active TSS	A549	lung
31	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
32	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine
36	chr6:166795000-166797800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:166795000-166798000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:166795000-166798000	Active TSS	Brain Hippocampus Middle	brain
39	chr6:166795000-166798000	Active TSS	Colonic Mucosa	Colon
40	chr6:166795000-166798000	Active TSS	Hela-S3	cervix
41	chr6:166795200-166797400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:166795200-166797400	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr6:166795200-166797400	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:166795200-166797400	Active TSS	Colon Smooth Muscle	Colon
45	chr6:166795200-166797600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:166795200-166797600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:166795200-166797600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:166795200-166797600	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:166795200-166797600	Active TSS	Liver	Liver
50	chr6:166795200-166797600	Active TSS	Brain Substantia Nigra	brain

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