Variant report

Variant	rs113393432
Chromosome Location	chr5:45696454-45696455
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	POLR2A	chr5:45696368-45696657	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr5:45696287-45696876	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:45696440-45696590	HAc	cerebellar:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
4	MAX	chr5:45696425-45696578	HepG2	liver:	n/a	n/a
5	CTCF	chr5:45696022-45696932	SK-N-SH	brain:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
6	RAD21	chr5:45696009-45696807	H1-hESC	embryonic stem cell:	n/a	chr5:45696508-45696527
7	CTCF	chr5:45696420-45696570	HA-sp	spinal cord:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
8	CTCF	chr5:45696426-45696612	GM10248	blood:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
9	REST	chr5:45696253-45696608	H1-hESC	embryonic stem cell:	n/a	chr5:45696409-45696422 chr5:45696424-45696442
10	CTCF	chr5:45696420-45696570	GM12865	blood:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
11	CTCF	chr5:45696406-45696597	A549	lung:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
12	CTCF	chr5:45696340-45696490	HVMF	connective:	n/a	n/a
13	CTCF	chr5:45696348-45696672	MCF-7	breast:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
14	TAF1	chr5:45696307-45696675	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:45696377-45696638	Pancreas_OC	pancreas:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
16	REST	chr5:45696246-45696671	PANC-1	pancreas:	n/a	chr5:45696409-45696422 chr5:45696424-45696442
17	MYC	chr5:45696387-45696693	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr5:45696427-45696616	GM10266	blood:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
19	CTCF	chr5:45696440-45696590	HPAF	blood vessel:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
20	REST	chr5:45696212-45696714	PFSK-1	brain:	n/a	chr5:45696409-45696422 chr5:45696424-45696442
21	TAF1	chr5:45696308-45696607	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr5:45696440-45696590	GM12866	blood:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
23	CTCF	chr5:45696302-45696762	MCF-7	breast:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
24	REST	chr5:45696353-45696625	PANC-1	pancreas:	n/a	chr5:45696409-45696422 chr5:45696424-45696442
25	YY1	chr5:45696295-45696577	HepG2	liver:	n/a	chr5:45696381-45696395 chr5:45696386-45696397 chr5:45696380-45696394 chr5:45696387-45696401 chr5:45696386-45696395
26	CTCF	chr5:45696420-45696570	AG09309	skin:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
27	MYC	chr5:45696352-45696656	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:45696331-45696564	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr5:45696374-45696659	H1-hESC	embryonic stem cell:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
30	CTCF	chr5:45696440-45696590	WERI-Rb-1	eye:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
31	TCF12	chr5:45696445-45696629	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr5:45696192-45696797	IMR90	lung:	n/a	n/a
33	YY1	chr5:45696294-45696680	H1-hESC	embryonic stem cell:	n/a	chr5:45696381-45696395 chr5:45696386-45696397 chr5:45696380-45696394 chr5:45696387-45696401 chr5:45696386-45696395
34	MAFK	chr5:45696375-45696587	HepG2	liver:	n/a	n/a
35	RAD21	chr5:45696357-45696758	A549	lung:	n/a	chr5:45696508-45696527
36	CTCF	chr5:45696394-45696628	Lung_OC	lung:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
37	CTCF	chr5:45696440-45696590	K562	blood:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
38	CTCF	chr5:45696440-45696590	SK-N-SH_RA	brain:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
39	CTCF	chr5:45696420-45696570	HFF	foreskin:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
40	CTCF	chr5:45696384-45696638	T-47D	breast:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
41	CHD2	chr5:45696374-45696677	H1-hESC	embryonic stem cell:	n/a	n/a
42	SMC3	chr5:45696443-45696642	GM12878	blood:	n/a	n/a
43	CTCF	chr5:45696440-45696590	NHLF	lung:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
44	MYC	chr5:45696404-45696619	MCF-7	breast:	n/a	n/a
45	CTCF	chr5:45696357-45696632	SK-N-SH_RA	brain:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
46	RAD21	chr5:45696372-45696795	MCF-7	breast:	n/a	chr5:45696508-45696527
47	CTCF	chr5:45696440-45696590	HEK293	kidney:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
48	SMC3	chr5:45696139-45696900	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr5:45696387-45696588	A549	lung:	n/a	chr5:45696510-45696528 chr5:45696505-45696526
50	CTCF	chr5:45696440-45696590	HRE	kidney:	n/a	chr5:45696510-45696528 chr5:45696505-45696526

Variant related genes	Relation type
HCN1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532804	chr5:45184041-45972996	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019807	chr5:45264656-45872829	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv537745	chr5:45264656-45872829	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916152	chr5:45273586-46115086	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015472	chr5:45320236-45900598	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv462133	chr5:45325915-46287112	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv597980	chr5:45325915-46287112	Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1023516	chr5:45396769-45872829	Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537748	chr5:45396769-45872829	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv462136	chr5:45406321-46228333	Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv597984	chr5:45406321-46228333	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv533064	chr5:45414583-46115086	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1031470	chr5:45472913-45872829	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv537749	chr5:45472913-45872829	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv525575	chr5:45479425-45912967	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1034156	chr5:45482635-46224012	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1027861	chr5:45499842-46251306	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1021254	chr5:45500335-45872968	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv537750	chr5:45500335-45872968	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv530229	chr5:45506336-46115086	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv597993	chr5:45537299-46265302	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv533265	chr5:45566963-45872828	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv597995	chr5:45666146-45996902	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv1020341	chr5:45666181-45828460	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv537753	chr5:45666181-45828460	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv597996	chr5:45669038-46287112	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv1034063	chr5:45671250-45708349	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv1027084	chr5:45675353-46389261	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	esv3355320	chr5:45694720-45697568	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
30	esv3491835	chr5:45694995-45697443	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
31	esv3491836	chr5:45694995-45697443	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45694400-45696600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:45694400-45696600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr5:45694400-45696800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:45694600-45696600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:45694600-45696600	Active TSS	Right Ventricle	heart
6	chr5:45694600-45697000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:45694800-45696600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:45694800-45696600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:45694800-45696800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:45695200-45696800	Active TSS	Fetal Brain Female	brain
11	chr5:45695400-45696600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:45695400-45696600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
13	chr5:45695400-45696800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:45695400-45696800	Active TSS	Brain Angular Gyrus	brain
15	chr5:45695400-45696800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr5:45695600-45696600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:45695600-45696600	Weak transcription	Fetal Brain Male	brain
18	chr5:45695600-45696600	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr5:45695600-45696800	Active TSS	Brain Anterior Caudate	brain
20	chr5:45695600-45696800	Active TSS	Brain Germinal Matrix	brain
21	chr5:45695600-45696800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr5:45695600-45696800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:45695600-45697000	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:45695800-45696600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:45695800-45696800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:45696000-45696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:45696200-45696600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:45696200-45696600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr5:45696200-45696600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr5:45696200-45696600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:45696200-45696600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:45696200-45696800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:45696400-45696600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:45696400-45696600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:45696400-45696600	Bivalent Enhancer	Thymus	Thymus
36	chr5:45696400-45696800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:45696400-45696800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:45696400-45696800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:45696400-45696800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:45696400-45696800	Flanking Active TSS	Pancreas	Pancrea

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