Variant report

Variant	rs199546311
Chromosome Location	chr6:12749973-12749974
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	MAX	chr6:12749781-12750687	H1-hESC	embryonic stem cell:	n/a	chr6:12750472-12750482
2	SIN3A	chr6:12748563-12750726	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr6:12748447-12750926	SK-N-SH	brain:	n/a	n/a
4	CTBP2	chr6:12748829-12750689	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr6:12749145-12750227	H1-hESC	embryonic stem cell:	n/a	chr6:12750203-12750217
6	POLR2A	chr6:12749806-12750048	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr6:12749766-12750024	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr6:12749797-12750058	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr6:12749227-12750659	H1-hESC	embryonic stem cell:	n/a	chr6:12750472-12750482
10	TAF1	chr6:12749800-12750040	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:12749194-12750748	H1-neurons	neurons:	n/a	n/a
12	TAF1	chr6:12749796-12750628	H1-neurons	neurons:	n/a	n/a
13	REST	chr6:12748947-12751024	H1-neurons	neurons:	n/a	chr6:12750584-12750604 chr6:12750905-12750923 chr6:12750584-12750604 chr6:12750914-12750932
14	ZNF143	chr6:12749122-12750239	H1-hESC	embryonic stem cell:	n/a	chr6:12749353-12749363
15	YY1	chr6:12749796-12750056	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr6:12749773-12750735	H1-neurons	neurons:	n/a	n/a
17	RAD21	chr6:12749325-12749999	H1-hESC	embryonic stem cell:	n/a	chr6:12749436-12749448
18	YY1	chr6:12749772-12750002	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000223291	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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3361165	chr6:12748791-12751339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	esv3432117	chr6:12748916-12751314	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12748800-12750400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr6:12748800-12750600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:12748800-12750600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:12748800-12750600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:12748800-12750600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:12748800-12751000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:12748800-12752600	Active TSS	Fetal Brain Female	brain
8	chr6:12749000-12750400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:12749000-12750400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:12749000-12750600	Active TSS	HSMM	muscle
11	chr6:12749000-12750800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:12749000-12751000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:12749000-12751000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:12749200-12750000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:12749200-12750200	Enhancers	Gastric	stomach
16	chr6:12749200-12750200	Enhancers	Pancreas	Pancrea
17	chr6:12749200-12750400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:12749200-12750400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:12749200-12750400	Enhancers	Fetal Brain Male	brain
20	chr6:12749200-12750600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:12749200-12750600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:12749200-12750600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr6:12749200-12750600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr6:12749200-12750600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
25	chr6:12749200-12750600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr6:12749200-12750600	Bivalent Enhancer	Left Ventricle	heart
27	chr6:12749200-12751000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:12749400-12750000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:12749400-12750000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
30	chr6:12749400-12750400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:12749400-12750600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:12749400-12750600	Active TSS	HSMMtube	muscle
33	chr6:12749400-12750800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:12749600-12750000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
35	chr6:12749600-12750000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:12749600-12750200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:12749600-12750200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:12749600-12750200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:12749600-12750400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:12749600-12750400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
41	chr6:12749600-12750600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:12749600-12750600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:12749600-12750600	Bivalent Enhancer	Lung	lung
44	chr6:12749600-12751000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:12749800-12750000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr6:12749800-12750000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
47	chr6:12749800-12750000	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr6:12749800-12750000	Flanking Active TSS	Right Atrium	heart
49	chr6:12749800-12750000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
50	chr6:12749800-12750200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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