Variant report

Variant	rs544649007
Chromosome Location	chr6:166796012-166796013
allele	G/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	POLR2A	chr6:166795215-166797378	K562	blood:	n/a	n/a
2	SIN3AK20	chr6:166795848-166797290	K562	blood:	n/a	n/a
3	ZBTB7A	chr6:166795347-166797515	ECC-1	luminal epithelium:	n/a	chr6:166796136-166796144
4	MAZ	chr6:166795132-166797512	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
5	MAX	chr6:166795170-166797425	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
6	ZBTB7A	chr6:166795332-166797300	K562	blood:	n/a	chr6:166796136-166796144
7	ZBTB7A	chr6:166795310-166796512	K562	blood:	n/a	chr6:166796136-166796144
8	POLR2A	chr6:166795848-166796565	GM12892	blood:	n/a	n/a
9	CTCF	chr6:166795260-166796111	K562	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
10	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
11	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
12	SIN3A	chr6:166795266-166797408	GM12878	blood:	n/a	chr6:166796646-166796659 chr6:166796181-166796194 chr6:166796912-166796921
13	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:166795182-166796062	GM12892	blood:	n/a	n/a
15	ETS1	chr6:166795974-166797233	K562	blood:	n/a	n/a
16	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
17	POLR2A	chr6:166795919-166797312	GM15510	blood:	n/a	n/a
18	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
19	MYC	chr6:166795939-166796023	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr6:166795213-166797490	IMR90	lung:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
21	ZNF263	chr6:166795475-166797140	K562	blood:	n/a	chr6:166796590-166796599
22	SMARCB1	chr6:166795290-166797111	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr6:166795953-166797189	PANC-1	pancreas:	n/a	n/a
24	IRF1	chr6:166795857-166797492	K562	blood:	n/a	chr6:166797362-166797373 chr6:166796615-166796629
25	EGR1	chr6:166795690-166796195	K562	blood:	n/a	n/a
26	MYC	chr6:166794974-166797461	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
27	ELF1	chr6:166795290-166797238	GM12878	blood:	n/a	n/a
28	CTCF	chr6:166795328-166796027	GM12891	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
29	POLR2A	chr6:166795965-166797429	PFSK-1	brain:	n/a	n/a
30	CCNT2	chr6:166795256-166797209	K562	blood:	n/a	chr6:166796616-166796625 chr6:166795492-166795501
31	CTCF	chr6:166795324-166796032	GM19238	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
32	POLR2A	chr6:166795987-166797520	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:166795242-166796102	GM12892	blood:	n/a	n/a
34	REST	chr6:166795897-166797574	H1-neurons	neurons:	n/a	chr6:166797032-166797045
35	MYBL2	chr6:166795143-166797688	HepG2	liver:	n/a	n/a
36	CTCF	chr6:166795960-166796110	GM12872	blood:	n/a	n/a
37	YY1	chr6:166795980-166797217	K562	blood:	n/a	chr6:166796619-166796633 chr6:166796620-166796634 chr6:166796616-166796625 chr6:166796877-166796891 chr6:166796988-166797002 chr6:166796827-166796836
38	POLR2A	chr6:166795958-166797425	K562	blood:	n/a	n/a
39	E2F6	chr6:166795296-166797452	K562	blood:	n/a	chr6:166796616-166796625 chr6:166796593-166796605 chr6:166796592-166796603 chr6:166796827-166796836
40	MAX	chr6:166795193-166797593	HepG2	liver:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
41	MAX	chr6:166795289-166797457	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
42	HMGN3	chr6:166795267-166797256	K562	blood:	n/a	n/a
43	POLR2A	chr6:166795228-166797472	K562	blood:	n/a	n/a
44	UBTF	chr6:166794945-166797541	K562	blood:	n/a	n/a
45	CTCF	chr6:166795980-166796130	GM12865	blood:	n/a	n/a
46	HA-E2F1	chr6:166795954-166797040	Hela-S3	cervix:	n/a	chr6:166796616-166796625 chr6:166796593-166796605 chr6:166796827-166796836
47	ZBTB7A	chr6:166795409-166796661	ECC-1	luminal epithelium:	n/a	chr6:166796136-166796144
48	ZEB1	chr6:166795116-166797351	HepG2	liver:	n/a	chr6:166795522-166795533
49	EGR1	chr6:166795810-166796217	K562	blood:	n/a	n/a
50	MXI1	chr6:166795253-166797430	HepG2	liver:	n/a	chr6:166796910-166796919 chr6:166796912-166796921

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	chr6:166794800-166796200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr6:166794800-166796200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:166794800-166796400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
13	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
14	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
20	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
21	chr6:166794800-166797600	Active TSS	K562	blood
22	chr6:166794800-166797600	Active TSS	NHLF	lung
23	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
27	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:166795000-166797200	Active TSS	Primary B cells from peripheral blood	blood
29	chr6:166795000-166797200	Active TSS	Fetal Lung	lung
30	chr6:166795000-166797200	Active TSS	Dnd41	blood
31	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
33	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
34	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:166795000-166797600	Active TSS	Aorta	Aorta
37	chr6:166795000-166797600	Active TSS	Ovary	ovary
38	chr6:166795000-166797600	Active TSS	A549	lung
39	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
40	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine
44	chr6:166795000-166797800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:166795000-166798000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:166795000-166798000	Active TSS	Brain Hippocampus Middle	brain
47	chr6:166795000-166798000	Active TSS	Colonic Mucosa	Colon
48	chr6:166795000-166798000	Active TSS	Hela-S3	cervix
49	chr6:166795200-166796200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:166795200-166797200	Active TSS	Skeletal Muscle Female	skeletal muscle

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