Variant report

Variant	rs573283148
Chromosome Location	chr6:165722536-165722537
allele	A/C
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	MAX	chr6:165722256-165723257	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr6:165722471-165723351	H1-hESC	embryonic stem cell:	n/a	chr6:165723168-165723181
3	E2F6	chr6:165722358-165722715	A549	lung:	n/a	chr6:165722645-165722660
4	MAX	chr6:165722235-165723305	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr6:165722535-165723262	IMR90	lung:	n/a	chr6:165723107-165723122 chr6:165723109-165723124
6	E2F6	chr6:165722373-165722547	K562	blood:	n/a	n/a
7	MAX	chr6:165722452-165723119	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr6:165722399-165723472	SK-N-SH	brain:	n/a	chr6:165723107-165723122 chr6:165723109-165723124
9	MAX	chr6:165722435-165722541	A549	lung:	n/a	n/a
10	HA-E2F1	chr6:165722465-165723210	MCF-7	breast:	n/a	chr6:165722645-165722660
11	KAP1	chr6:165722299-165723318	HEK293	kidney:	n/a	n/a
12	MYC	chr6:165722509-165722539	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr6:165722210-165723123	A549	lung:	n/a	n/a
14	E2F6	chr6:165722203-165723274	H1-hESC	embryonic stem cell:	n/a	chr6:165722645-165722660
15	E2F6	chr6:165722059-165723307	H1-hESC	embryonic stem cell:	n/a	chr6:165722645-165722660
16	ZNF263	chr6:165722354-165723251	HEK293-T-REx	kidney:	n/a	chr6:165722738-165722747 chr6:165722733-165722754 chr6:165722735-165722744 chr6:165722744-165722753 chr6:165722741-165722750 chr6:165723202-165723211
17	MAX	chr6:165722322-165723199	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C6orf118	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432982	chr6:165528589-165835589	Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv605245	chr6:165542686-165845903	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv1031648	chr6:165544569-165841029	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv432983	chr6:165554403-165851585	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3417270	chr6:165682773-166023032	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv5586	chr6:165694448-165747217	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv508438	chr6:165703355-165760649	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3499772	chr6:165715090-165732713	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3499773	chr6:165715090-165732713	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1812650	chr6:165716093-165737153	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3493315	chr6:165721412-165733110	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3493316	chr6:165721412-165733110	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv886928	chr6:165722345-166197889	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165721400-165722600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:165721400-165722600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:165721400-165723200	Active TSS	Brain Anterior Caudate	brain
4	chr6:165721600-165722600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:165721600-165722800	Weak transcription	Gastric	stomach
6	chr6:165721800-165722600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:165722200-165722600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:165722200-165722600	Weak transcription	Esophagus	oesophagus
9	chr6:165722200-165722600	Flanking Active TSS	Fetal Brain Female	brain
10	chr6:165722200-165722600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:165722200-165722800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr6:165722200-165723200	Active TSS	Brain Hippocampus Middle	brain
13	chr6:165722200-165723200	Active TSS	Fetal Lung	lung
14	chr6:165722200-165723200	Active TSS	HSMM	muscle
15	chr6:165722400-165722600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
16	chr6:165722400-165722600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:165722400-165722600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr6:165722400-165722600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr6:165722400-165722600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr6:165722400-165722600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:165722400-165722600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:165722400-165722600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr6:165722400-165722600	Flanking Active TSS	Fetal Kidney	kidney
24	chr6:165722400-165722600	Enhancers	Placenta	Placenta
25	chr6:165722400-165722600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr6:165722400-165722600	Enhancers	Lung	lung
27	chr6:165722400-165722600	Flanking Active TSS	A549	lung
28	chr6:165722400-165722800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr6:165722400-165722800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:165722400-165722800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr6:165722400-165722800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:165722400-165722800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr6:165722400-165722800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:165722400-165722800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr6:165722400-165722800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr6:165722400-165722800	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr6:165722400-165722800	Flanking Active TSS	Right Ventricle	heart
38	chr6:165722400-165722800	Flanking Active TSS	Hela-S3	cervix
39	chr6:165722400-165723000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:165722400-165723000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:165722400-165723000	Active TSS	Brain Angular Gyrus	brain
42	chr6:165722400-165723000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:165722400-165723000	Flanking Active TSS	Fetal Brain Male	brain
44	chr6:165722400-165723000	Active TSS	Ovary	ovary
45	chr6:165722400-165723000	Active TSS	Rectal Smooth Muscle	rectum
46	chr6:165722400-165723000	Active TSS	NH-A	brain
47	chr6:165722400-165723200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:165722400-165723200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:165722400-165723200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:165722400-165723200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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