Variant report

Variant	rs566889059
Chromosome Location	chr6:134272870-134272871
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	ZNF384	chr6:134272870-134274460	K562	blood:	n/a	chr6:134272950-134272958
2	MAZ	chr6:134272821-134274582	GM12878	blood:	n/a	chr6:134274197-134274207 chr6:134274440-134274449
3	POLR2A	chr6:134272371-134274622	GM12891	blood:	n/a	n/a
4	EP300	chr6:134272802-134272932	K562	blood:	n/a	n/a
5	MXI1	chr6:134272845-134274585	GM12878	blood:	n/a	n/a
6	REST	chr6:134272839-134275414	H1-neurons	neurons:	n/a	chr6:134274260-134274273
7	POLR2A	chr6:134272838-134274752	U87	brain:	n/a	n/a
8	PML	chr6:134272756-134274745	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:134272736-134274663	HEK293	kidney:	n/a	n/a
10	RUNX3	chr6:134272799-134274590	GM12878	blood:	n/a	n/a
11	KAP1	chr6:134272517-134273299	U2OS	brain:	n/a	n/a
12	MXI1	chr6:134272040-134277846	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr6:134272356-134275033	IMR90	lung:	n/a	n/a
14	POLR2A	chr6:134272832-134274752	U87	brain:	n/a	n/a
15	YY1	chr6:134272838-134273374	SK-N-SH_RA	brain:	n/a	n/a
16	MAZ	chr6:134272861-134274998	IMR90	lung:	n/a	chr6:134274197-134274207 chr6:134274440-134274449 chr6:134274689-134274699
17	POLR2A	chr6:134272570-134274980	GM12878	blood:	n/a	n/a
18	RELA	chr6:134272581-134274599	GM15510	blood:	n/a	n/a
19	MAX	chr6:134272854-134274859	HepG2	liver:	n/a	chr6:134274197-134274207 chr6:134274440-134274449 chr6:134274689-134274699
20	MAX	chr6:134272854-134273912	A549	lung:	n/a	n/a
21	ZNF384	chr6:134272803-134273305	GM12878	blood:	n/a	chr6:134272950-134272958
22	MAX	chr6:134272859-134273734	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1840176	chr6:134268822-134274297	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv1838635	chr6:134269008-134273139	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3387903	chr6:134272809-134276207	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134272200-134273000	Enhancers	Gastric	stomach
2	chr6:134272200-134273000	Enhancers	Stomach Mucosa	stomach
3	chr6:134272200-134273200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:134272400-134273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:134272400-134273000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:134272400-134273000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr6:134272400-134273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:134272400-134273000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr6:134272400-134273000	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr6:134272400-134273000	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr6:134272400-134273000	Flanking Active TSS	Fetal Lung	lung
12	chr6:134272400-134273000	Enhancers	Pancreas	Pancrea
13	chr6:134272400-134273000	Enhancers	Spleen	Spleen
14	chr6:134272400-134273000	Flanking Active TSS	HSMMtube	muscle
15	chr6:134272400-134273000	Flanking Active TSS	NH-A	brain
16	chr6:134272400-134273200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr6:134272400-134273200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:134272400-134274000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:134272400-134275200	Active TSS	Fetal Brain Female	brain
20	chr6:134272400-134275200	Active TSS	Fetal Kidney	kidney
21	chr6:134272400-134275200	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:134272400-134275400	Active TSS	Aorta	Aorta
23	chr6:134272600-134273000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:134272600-134273000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:134272600-134273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:134272600-134273000	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr6:134272600-134273000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:134272600-134273000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr6:134272600-134273000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:134272600-134273000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:134272600-134273000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr6:134272600-134273000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:134272600-134273000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:134272600-134273000	Flanking Active TSS	Fetal Brain Male	brain
35	chr6:134272600-134273000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:134272600-134273000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr6:134272600-134273000	Flanking Active TSS	Hela-S3	cervix
38	chr6:134272600-134273000	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr6:134272600-134273000	Flanking Active TSS	HUVEC	blood vessel
40	chr6:134272600-134273200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr6:134272600-134273200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:134272600-134273200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:134272600-134273200	Flanking Active TSS	Liver	Liver
44	chr6:134272600-134273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr6:134272600-134274400	Active TSS	Brain Germinal Matrix	brain
46	chr6:134272600-134274800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:134272600-134275000	Active TSS	Primary T cells fromperipheralblood	blood
48	chr6:134272600-134275200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:134272600-134275200	Active TSS	Brain Angular Gyrus	brain
50	chr6:134272600-134275200	Active TSS	Colonic Mucosa	Colon

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