Variant report

Variant	rs551398633
Chromosome Location	chr6:166796243-166796244
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	NFIC	chr6:166796154-166797783	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:166796195-166796927	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:166795215-166797378	K562	blood:	n/a	n/a
4	POLR2A	chr6:166796180-166796902	U87	brain:	n/a	n/a
5	E2F4	chr6:166796207-166797476	MCF10A-Er-Src	breast:	n/a	chr6:166796616-166796625 chr6:166796593-166796605 chr6:166796827-166796836 chr6:166796592-166796603
6	SIN3AK20	chr6:166795848-166797290	K562	blood:	n/a	n/a
7	STAT5A	chr6:166796030-166797477	GM12878	blood:	n/a	chr6:166796949-166796969
8	ZBTB7A	chr6:166795347-166797515	ECC-1	luminal epithelium:	n/a	chr6:166796136-166796144
9	NFIC	chr6:166796231-166796898	HepG2	liver:	n/a	n/a
10	MAZ	chr6:166795132-166797512	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
11	TAF1	chr6:166796227-166797316	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr6:166795170-166797425	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
13	ZBTB7A	chr6:166795332-166797300	K562	blood:	n/a	chr6:166796136-166796144
14	POLR2A	chr6:166796125-166797312	H1-neurons	neurons:	n/a	n/a
15	ZBTB7A	chr6:166795310-166796512	K562	blood:	n/a	chr6:166796136-166796144
16	NFYB	chr6:166796195-166796893	K562	blood:	n/a	chr6:166796526-166796541 chr6:166796526-166796540 chr6:166796523-166796538 chr6:166796525-166796537 chr6:166796526-166796541
17	POLR2A	chr6:166796190-166796904	GM12878	blood:	n/a	n/a
18	RELA	chr6:166796184-166797345	GM15510	blood:	n/a	n/a
19	TAF1	chr6:166796210-166797156	GM12878	blood:	n/a	n/a
20	MXI1	chr6:166796230-166797254	K562	blood:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
21	POLR2A	chr6:166795848-166796565	GM12892	blood:	n/a	n/a
22	POLR2A	chr6:166796181-166797434	K562	blood:	n/a	n/a
23	TAF1	chr6:166796235-166796565	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:166796171-166796554	Hela-S3	cervix:	n/a	n/a
25	YY1	chr6:166796065-166797163	K562	blood:	n/a	chr6:166796619-166796633 chr6:166796620-166796634 chr6:166796616-166796625 chr6:166796877-166796891 chr6:166796988-166797002 chr6:166796827-166796836
26	TAF1	chr6:166796233-166796502	GM12891	blood:	n/a	n/a
27	POLR2A	chr6:166796136-166797917	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:166796222-166796858	SK-N-SH	brain:	n/a	n/a
29	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
30	MAX	chr6:166796206-166797351	MCF-7	breast:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
31	POLR2A	chr6:166796185-166797460	K562	blood:	n/a	n/a
32	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:166796232-166797542	K562	blood:	n/a	n/a
34	POLR2A	chr6:166796145-166796977	ECC-1	luminal epithelium:	n/a	n/a
35	BHLHE40	chr6:166796185-166797343	HepG2	liver:	n/a	chr6:166796445-166796461 chr6:166796987-166797003 chr6:166796619-166796635
36	POLR2A	chr6:166796155-166797295	ProgFib	skin:	n/a	n/a
37	SIN3A	chr6:166795266-166797408	GM12878	blood:	n/a	chr6:166796646-166796659 chr6:166796181-166796194 chr6:166796912-166796921
38	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
39	PML	chr6:166796130-166797414	K562	blood:	n/a	n/a
40	PAX5	chr6:166796051-166797243	GM12892	blood:	n/a	chr6:166797174-166797183
41	E2F6	chr6:166796103-166797146	K562	blood:	n/a	chr6:166796616-166796625 chr6:166796593-166796605 chr6:166796592-166796603 chr6:166796827-166796836
42	ETS1	chr6:166795974-166797233	K562	blood:	n/a	n/a
43	POLR2A	chr6:166796088-166797364	GM19099	blood:	n/a	n/a
44	REST	chr6:166796224-166796777	H1-neurons	neurons:	n/a	n/a
45	YY1	chr6:166795956-166797110	GM12892	blood:	n/a	chr6:166796619-166796633 chr6:166796620-166796634 chr6:166796616-166796625 chr6:166796877-166796891 chr6:166796988-166797002 chr6:166796827-166796836
46	POLR2A	chr6:166795919-166797312	GM15510	blood:	n/a	n/a
47	RFX5	chr6:166796169-166796926	HepG2	liver:	n/a	chr6:166796671-166796680 chr6:166796668-166796682 chr6:166796667-166796682 chr6:166796669-166796685 chr6:166796670-166796684
48	ELF1	chr6:166796182-166797132	HepG2	liver:	n/a	n/a
49	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
50	EP300	chr6:166796099-166797535	ECC-1	luminal epithelium:	n/a	chr6:166796621-166796630 chr6:166797061-166797077

No.	Distal block	Cell Line	Cell type
1	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
2	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
3	chr6:166754173..166757774-chr6:166795355..166798060,3	MCF-7	breast:
4	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:

Variant related genes	Relation type
ENSG00000261420	TF binding region
ENSG00000233231	Chromatin interaction
ENSG00000198818	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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166794400-166796400	Active TSS	Right Atrium	heart
2	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
3	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
6	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
7	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
8	chr6:166794600-166797800	Active TSS	NHEK	skin
9	chr6:166794800-166796400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
11	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
12	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
18	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
19	chr6:166794800-166797600	Active TSS	K562	blood
20	chr6:166794800-166797600	Active TSS	NHLF	lung
21	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
25	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
26	chr6:166795000-166797200	Active TSS	Primary B cells from peripheral blood	blood
27	chr6:166795000-166797200	Active TSS	Fetal Lung	lung
28	chr6:166795000-166797200	Active TSS	Dnd41	blood
29	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
31	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:166795000-166797600	Active TSS	Aorta	Aorta
35	chr6:166795000-166797600	Active TSS	Ovary	ovary
36	chr6:166795000-166797600	Active TSS	A549	lung
37	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
38	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine
42	chr6:166795000-166797800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:166795000-166798000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:166795000-166798000	Active TSS	Brain Hippocampus Middle	brain
45	chr6:166795000-166798000	Active TSS	Colonic Mucosa	Colon
46	chr6:166795000-166798000	Active TSS	Hela-S3	cervix
47	chr6:166795200-166797200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr6:166795200-166797400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:166795200-166797400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr6:166795200-166797400	Active TSS	Primary T helper cells PMA-I stimulated	--

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