Variant report

Variant	rs550284147
Chromosome Location	chr6:166795739-166795740
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	POLR2A	chr6:166795215-166797378	K562	blood:	n/a	n/a
2	ZBTB7A	chr6:166795347-166797515	ECC-1	luminal epithelium:	n/a	chr6:166796136-166796144
3	MAZ	chr6:166795132-166797512	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
4	HDAC2	chr6:166795365-166795752	K562	blood:	n/a	n/a
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	KAP1	chr6:166795251-166795838	HEK293	kidney:	n/a	n/a
8	ZBTB7A	chr6:166795310-166796512	K562	blood:	n/a	chr6:166796136-166796144
9	CTCF	chr6:166795330-166795950	Fibrobl	skin:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
10	NFIC	chr6:166794941-166795767	GM12878	blood:	n/a	n/a
11	CHD2	chr6:166795231-166795797	GM12878	blood:	n/a	n/a
12	CTCF	chr6:166795260-166796111	K562	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
13	TCF12	chr6:166795169-166795862	ECC-1	luminal epithelium:	n/a	chr6:166795366-166795373 chr6:166795524-166795531
14	CTCF	chr6:166795640-166795790	HPF	lung:	n/a	n/a
15	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
16	RELA	chr6:166795011-166795762	GM19099	blood:	n/a	n/a
17	TBP	chr6:166795212-166795896	K562	blood:	n/a	n/a
18	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
19	MTA3	chr6:166795136-166795769	GM12878	blood:	n/a	n/a
20	SIN3A	chr6:166795266-166797408	GM12878	blood:	n/a	chr6:166796646-166796659 chr6:166796181-166796194 chr6:166796912-166796921
21	ZNF384	chr6:166794539-166795778	K562	blood:	n/a	n/a
22	CTCF	chr6:166795074-166795766	HCT-116	colon:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
23	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:166795182-166796062	GM12892	blood:	n/a	n/a
25	MAX	chr6:166795204-166795744	A549	lung:	n/a	n/a
26	ZEB1	chr6:166795317-166795793	GM12878	blood:	n/a	chr6:166795522-166795533
27	HEY1	chr6:166795235-166795771	K562	blood:	n/a	n/a
28	MAZ	chr6:166795213-166797490	IMR90	lung:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
29	ZNF263	chr6:166795475-166797140	K562	blood:	n/a	chr6:166796590-166796599
30	HDAC2	chr6:166795250-166795774	MCF-7	breast:	n/a	n/a
31	SMARCB1	chr6:166795290-166797111	Hela-S3	cervix:	n/a	n/a
32	PAX5	chr6:166795210-166795739	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr6:166795341-166795784	H1-hESC	embryonic stem cell:	n/a	n/a
34	EGR1	chr6:166795690-166796195	K562	blood:	n/a	n/a
35	MAZ	chr6:166794830-166795777	GM12878	blood:	n/a	n/a
36	MYC	chr6:166794974-166797461	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
37	TCF12	chr6:166795182-166795829	ECC-1	luminal epithelium:	n/a	chr6:166795366-166795373 chr6:166795524-166795531
38	CTCF	chr6:166795320-166795853	GM19240	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
39	STAT5A	chr6:166795204-166795899	GM12878	blood:	n/a	n/a
40	CTCF	chr6:166795342-166795839	ProgFib	skin:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
41	ELF1	chr6:166795290-166797238	GM12878	blood:	n/a	n/a
42	CTCF	chr6:166795323-166795856	Gliobla	brain:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
43	CTCF	chr6:166795328-166796027	GM12891	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
44	MAX	chr6:166795196-166795746	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr6:166795080-166795971	SK-N-SH	brain:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
46	TEAD4	chr6:166795060-166795855	K562	blood:	n/a	n/a
47	CCNT2	chr6:166795256-166797209	K562	blood:	n/a	chr6:166796616-166796625 chr6:166795492-166795501
48	POLR2A	chr6:166795116-166795859	GM12878	blood:	n/a	n/a
49	ESR1	chr6:166795436-166795874	ECC-1	luminal epithelium:	n/a	chr6:166795742-166795757 chr6:166795685-166795702 chr6:166795684-166795701
50	TCF3	chr6:166795356-166795833	GM12878	blood:	n/a	n/a

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	chr6:166726860..166727411-chr6:166795185..166795905,2	MCF-7	breast:
5	chr6:166744077..166744772-chr6:166795075..166795860,2	MCF-7	breast:
6	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
7	chr6:166689127..166689809-chr6:166795241..166795961,2	K562	blood:
8	chr6:166743853..166744743-chr6:166794927..166795865,3	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	chr6:166794600-166796000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr6:166794600-166796000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:166794600-166796000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
9	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
10	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
11	chr6:166794600-166797800	Active TSS	NHEK	skin
12	chr6:166794800-166796000	Active TSS	Fetal Heart	heart
13	chr6:166794800-166796000	Flanking Active TSS	NH-A	brain
14	chr6:166794800-166796200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:166794800-166796200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:166794800-166796400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
18	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
19	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
25	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
26	chr6:166794800-166797600	Active TSS	K562	blood
27	chr6:166794800-166797600	Active TSS	NHLF	lung
28	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
32	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
33	chr6:166795000-166795800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:166795000-166796000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:166795000-166797200	Active TSS	Primary B cells from peripheral blood	blood
36	chr6:166795000-166797200	Active TSS	Fetal Lung	lung
37	chr6:166795000-166797200	Active TSS	Dnd41	blood
38	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
40	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:166795000-166797600	Active TSS	Aorta	Aorta
44	chr6:166795000-166797600	Active TSS	Ovary	ovary
45	chr6:166795000-166797600	Active TSS	A549	lung
46	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
47	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine

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