Variant report

Variant	rs144624465
Chromosome Location	chr6:163833568-163833569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:163833488-163833687	GM12878	blood:	n/a	n/a
2	HEY1	chr6:163833392-163833982	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:163833436-163836080	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr6:163833427-163835947	K562	blood:	n/a	n/a
5	POLR2A	chr6:163833399-163835926	GM12891	blood:	n/a	n/a
6	POLR2A	chr6:163833218-163836000	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr6:163833200-163838755	SK-N-SH	brain:	n/a	n/a
8	MYBL2	chr6:163833554-163835285	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:163833240-163835966	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:163833238-163835960	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:163833495-163836403	K562	blood:	n/a	n/a
12	POLR2A	chr6:163833419-163836423	IMR90	lung:	n/a	n/a
13	ATF1	chr6:163833475-163833658	K562	blood:	n/a	n/a
14	CEBPB	chr6:163833449-163834753	K562	blood:	n/a	n/a
15	POLR2A	chr6:163833063-163835297	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:163833388-163836036	HepG2	liver:	n/a	n/a
17	GATA3	chr6:163833362-163833642	SH-SY5Y	brain:	n/a	n/a
18	POLR2A	chr6:163833450-163836087	GM12878	blood:	n/a	n/a
19	ARID3A	chr6:163833393-163835195	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:163833138-163835867	K562	blood:	n/a	n/a
21	MAFK	chr6:163833456-163834774	K562	blood:	n/a	chr6:163834302-163834313 chr6:163834300-163834314

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163725918..163727720-chr6:163831906..163834070,2	K562	blood:
2	chr6:163832712..163834333-chr6:164408971..164410917,2	K562	blood:
3	chr6:163831740..163833588-chr6:164102782..164105266,2	K562	blood:
4	chr6:163707215..163709135-chr6:163832836..163834940,2	MCF-7	breast:
5	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:

No data

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1791729	chr6:163814557-163836689	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1839403	chr6:163822296-163835490	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1793461	chr6:163822296-163836634	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1794611	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1796475	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1797016	chr6:163822296-163836689	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1801202	chr6:163822296-163836689	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv1801861	chr6:163822296-163836689	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv605193	chr6:163824864-163835490	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv605194	chr6:163824864-163836293	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv605195	chr6:163824864-163836634	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3388703	chr6:163833387-163836135	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3335151	chr6:163833462-163838560	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163827200-163833600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:163827200-163833600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:163827200-163833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:163827200-163834200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:163827200-163834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:163827200-163834200	Weak transcription	Spleen	Spleen
7	chr6:163827400-163833600	Weak transcription	Psoas Muscle	Psoas
8	chr6:163827400-163833600	Weak transcription	Right Atrium	heart
9	chr6:163827400-163833800	Weak transcription	Aorta	Aorta
10	chr6:163827600-163833800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:163828000-163833600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:163828200-163833600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:163830600-163833600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:163831200-163834200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:163832600-163834000	Weak transcription	Lung	lung
16	chr6:163832600-163834200	Weak transcription	Gastric	stomach
17	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr6:163832800-163833600	Weak transcription	Placenta	Placenta
19	chr6:163832800-163833800	Weak transcription	Left Ventricle	heart
20	chr6:163832800-163834000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:163832800-163835200	Active TSS	Brain Hippocampus Middle	brain
22	chr6:163833000-163833800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:163833000-163837200	Active TSS	Brain Cingulate Gyrus	brain
24	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:163833200-163833600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:163833200-163833600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:163833200-163835200	Active TSS	A549	lung
28	chr6:163833200-163836200	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr6:163833200-163837200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
31	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
32	chr6:163833400-163833600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:163833400-163833600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:163833400-163833600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:163833400-163833600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:163833400-163833600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:163833400-163833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:163833400-163833600	Active TSS	Primary T cells from cord blood	blood
39	chr6:163833400-163833600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:163833400-163833600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:163833400-163833600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:163833400-163833600	Enhancers	Liver	Liver
43	chr6:163833400-163833600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr6:163833400-163833600	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr6:163833400-163833600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:163833400-163833600	Enhancers	Colon Smooth Muscle	Colon
47	chr6:163833400-163833600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr6:163833400-163833600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:163833400-163833600	Flanking Active TSS	Fetal Stomach	stomach
50	chr6:163833400-163833600	Enhancers	Placenta Amnion	Placenta Amnion

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