Variant report

Variant	rs543125141
Chromosome Location	chr5:179636284-179636285
allele	A/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	MYC	chr5:179636050-179636397	K562	blood:	n/a	n/a
2	MAX	chr5:179635386-179636444	K562	blood:	n/a	chr5:179635803-179635813
3	CTCF	chr5:179636160-179636310	HRPEpiC	eye:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
4	E2F6	chr5:179635561-179636398	K562	blood:	n/a	chr5:179636249-179636258 chr5:179636360-179636370 chr5:179635790-179635801 chr5:179635770-179635779
5	CTCF	chr5:179636180-179636330	NHEK	skin:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
6	ZNF143	chr5:179636099-179636380	GM12878	blood:	n/a	chr5:179636249-179636267
7	CTCF	chr5:179636180-179636330	K562	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
8	HCFC1	chr5:179636166-179636421	K562	blood:	n/a	n/a
9	CTCF	chr5:179636160-179636310	AG04449	skin:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
10	UBTF	chr5:179635608-179636413	K562	blood:	n/a	n/a
11	CTCF	chr5:179636160-179636310	GM12865	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
12	SMC3	chr5:179635354-179636780	SK-N-SH	brain:	n/a	chr5:179636218-179636232
13	CTCF	chr5:179636180-179636330	GM12864	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
14	CTCF	chr5:179636088-179636391	MCF-7	breast:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
15	MYC	chr5:179636136-179636316	HepG2	liver:	n/a	n/a
16	MAX	chr5:179636121-179636351	K562	blood:	n/a	n/a
17	CTCF	chr5:179636160-179636310	GM12875	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
18	CTCF	chr5:179636180-179636330	AoAF	blood vessel:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
19	MAX	chr5:179635460-179636458	A549	lung:	n/a	chr5:179635803-179635813
20	CTCF	chr5:179636180-179636330	A549	lung:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
21	CTCF	chr5:179636140-179636290	HVMF	connective:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
22	CTCF	chr5:179636106-179636381	Fibrobl	skin:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
23	CTCF	chr5:179636140-179636290	AG04450	lung:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
24	CTCF	chr5:179636107-179636378	A549	lung:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
25	YY1	chr5:179636138-179636302	SK-N-SH_RA	brain:	n/a	chr5:179636190-179636199 chr5:179636162-179636176
26	CTCF	chr5:179636106-179636409	H1-hESC	embryonic stem cell:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
27	CTCF	chr5:179636115-179636368	Medullo	brain:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
28	CTCF	chr5:179636140-179636290	AG09309	skin:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
29	CTCF	chr5:179635666-179636500	IMR90	lung:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636469-179636478 chr5:179635758-179635767 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231 chr5:179635796-179635809
30	CTCF	chr5:179636101-179636370	Spleen_OC	spleen:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
31	HA-E2F1	chr5:179635604-179636375	Hela-S3	cervix:	n/a	chr5:179636249-179636258 chr5:179636360-179636370 chr5:179635770-179635779
32	MAX	chr5:179635228-179636468	MCF-7	breast:	n/a	chr5:179635803-179635813
33	BHLHE40	chr5:179636050-179636406	K562	blood:	n/a	chr5:179636361-179636377
34	ZNF384	chr5:179636175-179636373	K562	blood:	n/a	n/a
35	CTCF	chr5:179636180-179636330	GM12873	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
36	CTCF	chr5:179636160-179636310	HepG2	liver:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
37	MAZ	chr5:179635784-179636444	IMR90	lung:	n/a	chr5:179635803-179635813
38	CTCF	chr5:179636104-179636369	GM13977	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
39	CTCF	chr5:179636180-179636330	HEK293	kidney:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
40	YY1	chr5:179636081-179636386	GM12878	blood:	n/a	chr5:179636088-179636102 chr5:179636317-179636331 chr5:179636190-179636199 chr5:179636162-179636176
41	CTCF	chr5:179636028-179636424	GM12878	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
42	MAX	chr5:179636011-179636405	ECC-1	luminal epithelium:	n/a	n/a
43	RAD21	chr5:179636207-179636405	A549	lung:	n/a	chr5:179636218-179636232 chr5:179636299-179636312 chr5:179636214-179636233
44	CTCF	chr5:179636124-179636367	ProgFib	skin:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
45	ZNF143	chr5:179636200-179636356	Hela-S3	cervix:	n/a	chr5:179636249-179636267
46	POLR2A	chr5:179636128-179636457	HCT-116	colon:	n/a	n/a
47	E2F6	chr5:179636035-179636351	K562	blood:	n/a	chr5:179636249-179636258
48	CTCF	chr5:179636134-179636352	Lung_OC	lung:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
49	CTCF	chr5:179636117-179636403	A549	lung:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
50	CTCF	chr5:179636180-179636330	GM12874	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179636283-179636333	PFSK-1	brain:	n/a
2	chr5:179636283-179636333	Caco-2	colon:	n/a
3	chr5:179636283-179636333	HCM	heart:	n/a
4	chr5:179636283-179636333	HCPEpiC	choroid plexus:	n/a
5	chr5:179636283-179636333	HL-60	blood:	n/a
6	chr5:179636283-179636333	SKMC	muscle:	n/a
7	chr5:179636283-179636333	SK-N-MC	brain:	n/a
8	chr5:179636283-179636333	T-47D	breast:	n/a
9	chr5:179636283-179636333	AG04450	lung:	fetal
10	chr5:179636283-179636333	CMK	blood:	n/a
11	chr5:179636283-179636333	HRE	kidney:	n/a
12	chr5:179636283-179636333	BJ	skin:	n/a
13	chr5:179636283-179636333	SK-N-SH	brain:	n/a
14	chr5:179636283-179636333	HAEpiC	amniotic membrane:	n/a
15	chr5:179636283-179636333	A549	lung:	n/a
16	chr5:179636283-179636333	HCF	heart:	n/a
17	chr5:179636283-179636333	AoSMC	blood vessel:	n/a
18	chr5:179636283-179636333	RPTEC	kidney:	n/a
19	chr5:179636283-179636333	AG09319	gingival:	n/a
20	chr5:179636283-179636333	HPAEpiC	pulmonary alveolar:	n/a
21	chr5:179636283-179636333	AG04449	skin:	fetal
22	chr5:179636283-179636333	U87	brain:	n/a
23	chr5:179636283-179636333	NHDF-neo	bronchial:	n/a
24	chr5:179636283-179636333	PANC-1	pancreas:	n/a
25	chr5:179636283-179636333	AG09309	skin:	n/a
26	chr5:179636283-179636333	NHBE	bronchial:	n/a
27	chr5:179636283-179636333	SAEC	small airway:	n/a
28	chr5:179636283-179636333	ProgFib	skin:	n/a
29	chr5:179636283-179636333	SK-N-SH_RA	brain:	n/a
30	chr5:179636283-179636333	HMEC	breast:	n/a
31	chr5:179636283-179636333	Hepatocyte	liver:	n/a
32	chr5:179636283-179636333	LNCaP	prostate:	n/a
33	chr5:179636283-179636333	HRPEpiC	eye:	n/a
34	chr5:179636283-179636333	GM12892	blood:	n/a
35	chr5:179636283-179636333	IMR90	lung:	fetal
36	chr5:179636283-179636333	NT2-D1	testis:	n/a
37	chr5:179636283-179636333	PrEC	prostate:	n/a
38	chr5:179636283-179636333	HNPCEpiC	eye:	n/a
39	chr5:179636283-179636333	K562	blood:	n/a
40	chr5:179636283-179636333	GM19239	blood:	n/a
41	chr5:179636283-179636333	GM12891	blood:	n/a
42	chr5:179636283-179636333	HepG2	liver:	n/a
43	chr5:179636283-179636333	NH-A	brain:	n/a
44	chr5:179636283-179636333	GM06990	blood:	n/a
45	chr5:179636283-179636333	HIPEpiC	eye:	n/a
46	chr5:179636283-179636333	MCF10A-Er-Src	breast:	n/a
47	chr5:179636283-179636333	AG10803	skin:	n/a
48	chr5:179636283-179636333	MCF-7	breast:	n/a
49	chr5:179636283-179636333	HEEpiC	esophagus:	n/a
50	chr5:179636283-179636333	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:
2	chr5:179636157..179639359-chr5:179641461..179644523,3	MCF-7	breast:
3	chr5:179297336..179298161-chr5:179635822..179636672,3	K562	blood:
4	chr5:179413434..179413943-chr5:179636169..179636674,2	K562	blood:

Variant related genes	Relation type
RASGEF1C	TF binding region
RASGEF1C	CpG island
ENSG00000197226	Chromatin interaction
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv883289	chr5:179597647-179639885	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3429077	chr5:179635146-179637594	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179634400-179636600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:179634600-179636800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:179634800-179636400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr5:179634800-179636600	Enhancers	Gastric	stomach
5	chr5:179634800-179636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:179635200-179636800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr5:179635400-179636600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:179635600-179636400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:179635600-179636400	Active TSS	Brain Germinal Matrix	brain
10	chr5:179635600-179636400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:179635600-179636600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr5:179635600-179636600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:179635600-179636600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:179635600-179636600	Active TSS	Fetal Brain Female	brain
15	chr5:179635600-179636600	Enhancers	Spleen	Spleen
16	chr5:179635800-179636400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:179635800-179636400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:179635800-179636400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:179635800-179636400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:179635800-179636400	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr5:179635800-179636400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:179635800-179636400	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr5:179635800-179636400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:179635800-179636400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:179635800-179636400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:179635800-179636400	Enhancers	Brain Anterior Caudate	brain
27	chr5:179635800-179636400	Active TSS	Brain Cingulate Gyrus	brain
28	chr5:179635800-179636400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:179635800-179636400	Active TSS	Ovary	ovary
30	chr5:179635800-179636400	Active TSS	Rectal Smooth Muscle	rectum
31	chr5:179635800-179636400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr5:179635800-179636400	Active TSS	HepG2	liver
33	chr5:179635800-179636400	Active TSS	NHLF	lung
34	chr5:179635800-179636600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr5:179635800-179636600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:179635800-179636600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:179635800-179636600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:179635800-179636600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:179635800-179636600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:179635800-179636600	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr5:179635800-179636600	Enhancers	Fetal Brain Male	brain
42	chr5:179635800-179636600	Active TSS	Left Ventricle	heart
43	chr5:179635800-179636600	Active TSS	Psoas Muscle	Psoas
44	chr5:179635800-179636600	Active TSS	HMEC	breast
45	chr5:179635800-179636600	Active TSS	HSMM	muscle
46	chr5:179635800-179636600	Active TSS	K562	blood
47	chr5:179635800-179636800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:179635800-179636800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:179635800-179636800	Active TSS	A549	lung
50	chr5:179635800-179636800	Active TSS	Hela-S3	cervix

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