Variant report

Variant	rs530926205
Chromosome Location	chr6:73331764-73331765
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	CTBP2	chr6:73330636-73333123	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:73331067-73333300	PFSK-1	brain:	n/a	n/a
3	TBP	chr6:73331444-73333237	K562	blood:	n/a	n/a
4	MAX	chr6:73331673-73332683	K562	blood:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332443-73332450
5	POLR2A	chr6:73331562-73333193	GM12892	blood:	n/a	n/a
6	E2F6	chr6:73331394-73332710	A549	lung:	n/a	chr6:73331774-73331786 chr6:73331735-73331742 chr6:73331865-73331875 chr6:73331777-73331786 chr6:73331734-73331746 chr6:73331735-73331742 chr6:73331735-73331742
7	MYC	chr6:73331702-73333560	MCF10A-Er-Src	breast:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332995-73333005 chr6:73332443-73332450
8	POLR2A	chr6:73331686-73333165	K562	blood:	n/a	n/a
9	POLR2A	chr6:73329493-73333253	NB4	blood:	n/a	n/a
10	ZNF143	chr6:73331182-73333246	GM12878	blood:	n/a	chr6:73333025-73333035 chr6:73331594-73331612
11	FOXP2	chr6:73331746-73332483	PFSK-1	brain:	n/a	n/a
12	EGR1	chr6:73331684-73331945	GM12878	blood:	n/a	chr6:73331778-73331791 chr6:73331775-73331789 chr6:73331865-73331878 chr6:73331865-73331875
13	CHD1	chr6:73331153-73333968	GM12878	blood:	n/a	chr6:73332987-73332997
14	RAD21	chr6:73331745-73332301	H1-hESC	embryonic stem cell:	n/a	chr6:73331874-73331888 chr6:73331868-73331882
15	ZBTB7A	chr6:73331633-73332466	K562	blood:	n/a	n/a
16	POLR2A	chr6:73330620-73333240	GM18951	blood:	n/a	n/a
17	GTF2B	chr6:73331735-73331857	K562	blood:	n/a	n/a
18	YY1	chr6:73331707-73332319	GM12878	blood:	n/a	chr6:73331874-73331888 chr6:73331868-73331882 chr6:73331864-73331878 chr6:73331777-73331786 chr6:73331861-73331872
19	RUNX3	chr6:73331715-73332459	GM12878	blood:	n/a	n/a
20	MAX	chr6:73331729-73333216	A549	lung:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332995-73333005 chr6:73332443-73332450
21	POLR2A	chr6:73331667-73333152	GM12878	blood:	n/a	n/a
22	E2F6	chr6:73330955-73333250	K562	blood:	n/a	chr6:73331774-73331786 chr6:73331109-73331121 chr6:73331735-73331742 chr6:73331865-73331875 chr6:73332986-73332998 chr6:73332986-73332995 chr6:73331777-73331786 chr6:73331734-73331746 chr6:73331735-73331742 chr6:73331735-73331742
23	ZEB1	chr6:73331050-73331928	GM12878	blood:	n/a	n/a
24	MAX	chr6:73331716-73332608	MCF-7	breast:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332443-73332450
25	UBTF	chr6:73331713-73332295	K562	blood:	n/a	n/a
26	TCF3	chr6:73331727-73332460	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:73331656-73333308	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:73330723-73333369	SK-N-MC	brain:	n/a	n/a
29	YY1	chr6:73331631-73332540	GM12878	blood:	n/a	chr6:73331874-73331888 chr6:73331868-73331882 chr6:73331864-73331878 chr6:73332473-73332484 chr6:73331777-73331786 chr6:73331861-73331872
30	POLR2A	chr6:73331698-73333191	K562	blood:	n/a	n/a
31	TCF12	chr6:73330971-73334035	SK-N-SH	brain:	n/a	chr6:73331770-73331780 chr6:73332947-73332957
32	MYC	chr6:73329525-73333814	NB4	blood:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332995-73333005 chr6:73329906-73329916 chr6:73332443-73332450
33	RUNX3	chr6:73331606-73332044	GM12878	blood:	n/a	n/a
34	SUZ12	chr6:73330666-73332359	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:73330912-73333393	GM12878	blood:	n/a	n/a
36	CTCF	chr6:73331745-73332180	H1-hESC	embryonic stem cell:	n/a	chr6:73331888-73331901
37	EP300	chr6:73330803-73333357	SK-N-SH	brain:	n/a	chr6:73333212-73333222
38	TAF1	chr6:73331618-73331980	K562	blood:	n/a	n/a
39	E2F6	chr6:73331727-73332688	K562	blood:	n/a	chr6:73331774-73331786 chr6:73331735-73331742 chr6:73331865-73331875 chr6:73331777-73331786 chr6:73331734-73331746 chr6:73331735-73331742 chr6:73331735-73331742
40	SIN3A	chr6:73331127-73333048	H1-hESC	embryonic stem cell:	n/a	chr6:73331862-73331875 chr6:73331877-73331886 chr6:73332980-73332991
41	TCF7L2	chr6:73331651-73332106	PANC-1	pancreas:	n/a	n/a
42	SIN3A	chr6:73331696-73331978	GM12878	blood:	n/a	chr6:73331862-73331875 chr6:73331877-73331886
43	TBL1XR1	chr6:73331147-73332034	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:73331561-73333166	K562	blood:	n/a	n/a
45	RCOR1	chr6:73331407-73331981	GM12878	blood:	n/a	n/a
46	CTCF	chr6:73331640-73331790	NHLF	lung:	n/a	n/a
47	E2F4	chr6:73331613-73333156	K562	blood:	n/a	chr6:73331774-73331786 chr6:73331735-73331742 chr6:73331865-73331875 chr6:73332986-73332998 chr6:73332986-73332995 chr6:73331777-73331786 chr6:73331734-73331746 chr6:73331735-73331742 chr6:73331735-73331742
48	POLR2A	chr6:73330634-73333819	Raji	blood:	n/a	n/a
49	E2F6	chr6:73330724-73333226	H1-hESC	embryonic stem cell:	n/a	chr6:73331774-73331786 chr6:73331109-73331121 chr6:73331735-73331742 chr6:73331865-73331875 chr6:73332986-73332998 chr6:73332986-73332995 chr6:73331777-73331786 chr6:73331734-73331746 chr6:73331735-73331742 chr6:73331735-73331742
50	YY1	chr6:73330955-73332712	SK-N-SH	brain:	n/a	chr6:73331874-73331888 chr6:73331868-73331882 chr6:73331864-73331878 chr6:73332473-73332484 chr6:73331777-73331786 chr6:73331861-73331872

Variant related genes	Relation type
KCNQ5	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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3412497	chr6:73330856-73333404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73329200-73333800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:73329400-73333200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr6:73329400-73334400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:73329600-73331800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr6:73329600-73331800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:73329600-73331800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:73329600-73331800	Flanking Active TSS	Dnd41	blood
8	chr6:73329600-73331800	Flanking Active TSS	NH-A	brain
9	chr6:73329600-73332000	Active TSS	Brain Hippocampus Middle	brain
10	chr6:73329600-73332400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:73329600-73332600	Active TSS	Brain Anterior Caudate	brain
12	chr6:73329600-73332600	Active TSS	Brain Cingulate Gyrus	brain
13	chr6:73329600-73332800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:73329600-73333200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:73329600-73333200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:73329600-73333200	Active TSS	Aorta	Aorta
17	chr6:73329600-73333600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:73329600-73333600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:73329600-73333800	Active TSS	Brain Angular Gyrus	brain
20	chr6:73329800-73331800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:73329800-73331800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr6:73329800-73332800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:73329800-73333200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr6:73329800-73333200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:73329800-73333200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:73329800-73333200	Active TSS	Psoas Muscle	Psoas
27	chr6:73329800-73333400	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr6:73329800-73333400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:73330000-73331800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr6:73330000-73332400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:73330000-73332400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr6:73330000-73333200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:73330200-73333200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:73330400-73331800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:73330400-73331800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
36	chr6:73330400-73333000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:73330600-73331800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr6:73330600-73332800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:73330600-73333200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:73330800-73331800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:73330800-73331800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
42	chr6:73330800-73331800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr6:73330800-73331800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr6:73330800-73332200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr6:73330800-73332200	Active TSS	NHLF	lung
46	chr6:73330800-73333200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:73330800-73333200	Flanking Active TSS	Pancreas	Pancrea
48	chr6:73330800-73333400	Bivalent/Poised TSS	NHDF-Ad	bronchial
49	chr6:73330800-73333400	Active TSS	Osteobl	bone
50	chr6:73331000-73331800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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