Variant report

Variant	rs535588338
Chromosome Location	chr6:73331167-73331168
allele	C/G
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	POLR2A	chr6:73330981-73331581	GM12878	blood:	n/a	n/a
4	ESR1	chr6:73331163-73331464	T-47D	breast:	n/a	n/a
5	POLR2A	chr6:73329493-73333253	NB4	blood:	n/a	n/a
6	SMC3	chr6:73331074-73331706	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:73330933-73331590	SK-N-SH	brain:	n/a	n/a
8	EBF1	chr6:73331082-73331469	GM12878	blood:	n/a	n/a
9	CHD1	chr6:73331153-73333968	GM12878	blood:	n/a	chr6:73332987-73332997
10	ESR1	chr6:73331162-73331496	T-47D	breast:	n/a	n/a
11	CTCF	chr6:73331160-73331310	HBMEC	blood vessel:	n/a	chr6:73331239-73331252
12	POLR2A	chr6:73330620-73333240	GM18951	blood:	n/a	n/a
13	FOXP2	chr6:73331017-73331600	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr6:73331167-73331189	MCF-7	breast:	n/a	n/a
15	SETDB1	chr6:73331048-73331350	U2OS	brain:	n/a	n/a
16	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
17	ZEB1	chr6:73331050-73331928	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:73330723-73333369	SK-N-MC	brain:	n/a	n/a
19	SIN3AK20	chr6:73331118-73331544	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr6:73330971-73334035	SK-N-SH	brain:	n/a	chr6:73331770-73331780 chr6:73332947-73332957
21	MYC	chr6:73329525-73333814	NB4	blood:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332995-73333005 chr6:73329906-73329916 chr6:73332443-73332450
22	POLR2A	chr6:73331086-73331428	GM12878	blood:	n/a	n/a
23	SUZ12	chr6:73330666-73332359	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr6:73331160-73331310	GM12865	blood:	n/a	chr6:73331239-73331252
25	TAF1	chr6:73331131-73331476	SK-N-SH	brain:	n/a	n/a
26	STAT1	chr6:73330901-73331451	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:73330912-73333393	GM12878	blood:	n/a	n/a
28	EP300	chr6:73330803-73333357	SK-N-SH	brain:	n/a	chr6:73333212-73333222
29	POLR2A	chr6:73331010-73331510	Gliobla	brain:	n/a	n/a
30	SIN3A	chr6:73331127-73333048	H1-hESC	embryonic stem cell:	n/a	chr6:73331862-73331875 chr6:73331877-73331886 chr6:73332980-73332991
31	TCF7L2	chr6:73331142-73331448	PANC-1	pancreas:	n/a	n/a
32	MYC	chr6:73331100-73331360	MCF-7	breast:	n/a	n/a
33	TBL1XR1	chr6:73331147-73332034	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:73330634-73333819	Raji	blood:	n/a	n/a
35	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
36	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
37	MAX	chr6:73331043-73331534	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:73331029-73331309	MCF-7	breast:	n/a	n/a
39	MAX	chr6:73331091-73332772	H1-hESC	embryonic stem cell:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332443-73332450
40	POLR2A	chr6:73331045-73331584	ProgFib	skin:	n/a	n/a
41	PML	chr6:73331124-73332121	GM12878	blood:	n/a	chr6:73331631-73331639
42	HMGN3	chr6:73330998-73332550	K562	blood:	n/a	n/a
43	ELF1	chr6:73330586-73333174	GM12878	blood:	n/a	chr6:73331869-73331881
44	MXI1	chr6:73330836-73333530	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr6:73331131-73333204	GM18505	blood:	n/a	n/a
46	POLR2A	chr6:73329606-73333225	GM19193	blood:	n/a	n/a
47	POLR2A	chr6:73330661-73333228	GM18526	blood:	n/a	n/a
48	POLR2A	chr6:73330813-73333334	GM12878	blood:	n/a	n/a
49	MAX	chr6:73329345-73333802	NB4	blood:	n/a	chr6:73332416-73332426 chr6:73332439-73332454 chr6:73332995-73333005 chr6:73329906-73329916 chr6:73332443-73332450
50	POLR2A	chr6:73330771-73333242	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:73306231..73308470-chr6:73328760..73331273,2	K562	blood:
2	chr6:73326755..73329181-chr6:73329336..73331379,2	K562	blood:
3	chr11:62608699..62609218-chr6:73330653..73331386,2	NB4	blood:

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73329200-73331600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr6:73329200-73331600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr6:73329200-73333800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:73329400-73331400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr6:73329400-73331400	Flanking Active TSS	GM12878-XiMat	blood
6	chr6:73329400-73333200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr6:73329400-73334400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr6:73329600-73331200	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr6:73329600-73331200	Bivalent Enhancer	Placenta	Placenta
10	chr6:73329600-73331400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:73329600-73331600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr6:73329600-73331600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr6:73329600-73331600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:73329600-73331600	Flanking Active TSS	HSMM	muscle
15	chr6:73329600-73331800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr6:73329600-73331800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr6:73329600-73331800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:73329600-73331800	Flanking Active TSS	Dnd41	blood
19	chr6:73329600-73331800	Flanking Active TSS	NH-A	brain
20	chr6:73329600-73332000	Active TSS	Brain Hippocampus Middle	brain
21	chr6:73329600-73332400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:73329600-73332600	Active TSS	Brain Anterior Caudate	brain
23	chr6:73329600-73332600	Active TSS	Brain Cingulate Gyrus	brain
24	chr6:73329600-73332800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:73329600-73333200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:73329600-73333200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr6:73329600-73333200	Active TSS	Aorta	Aorta
28	chr6:73329600-73333600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:73329600-73333600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:73329600-73333800	Active TSS	Brain Angular Gyrus	brain
31	chr6:73329800-73331200	Enhancers	Lung	lung
32	chr6:73329800-73331400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:73329800-73331400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:73329800-73331800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:73329800-73331800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr6:73329800-73332800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:73329800-73333200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr6:73329800-73333200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:73329800-73333200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:73329800-73333200	Active TSS	Psoas Muscle	Psoas
41	chr6:73329800-73333400	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:73329800-73333400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:73330000-73331200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr6:73330000-73331800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr6:73330000-73332400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:73330000-73332400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr6:73330000-73333200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:73330200-73331200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:73330200-73331200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
50	chr6:73330200-73333200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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