Variant report

Variant	rs374242921
Chromosome Location	chr5:179636439-179636440
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	MAX	chr5:179635386-179636444	K562	blood:	n/a	chr5:179635803-179635813
2	SMC3	chr5:179635354-179636780	SK-N-SH	brain:	n/a	chr5:179636218-179636232
3	MAX	chr5:179635460-179636458	A549	lung:	n/a	chr5:179635803-179635813
4	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
5	MAX	chr5:179635228-179636468	MCF-7	breast:	n/a	chr5:179635803-179635813
6	MAZ	chr5:179635784-179636444	IMR90	lung:	n/a	chr5:179635803-179635813
7	POLR2A	chr5:179636128-179636457	HCT-116	colon:	n/a	n/a
8	CTCF	chr5:179636400-179636550	HCFaa	heart:	n/a	chr5:179636469-179636478
9	RAD21	chr5:179636147-179636467	HepG2	liver:	n/a	chr5:179636218-179636232 chr5:179636299-179636312 chr5:179636214-179636233 chr5:179636407-179636419
10	RAD21	chr5:179635944-179636612	SK-N-SH	brain:	n/a	chr5:179636218-179636232 chr5:179636299-179636312 chr5:179636214-179636233 chr5:179636470-179636479 chr5:179636407-179636419
11	CTCF	chr5:179635999-179636453	H1-hESC	embryonic stem cell:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
12	CTCF	chr5:179636400-179636550	HUVEC	blood vessel:	n/a	chr5:179636469-179636478
13	CTCF	chr5:179635584-179636516	K562	blood:	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
14	RCOR1	chr5:179635335-179636570	IMR90	lung:	n/a	n/a
15	CTCF	chr5:179636131-179636480	MCF-7	breast:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636469-179636478 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
16	CTCF	chr5:179635303-179636698	SK-N-SH	brain:	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
17	CTCF	chr5:179636180-179636470	GM12865	blood:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
18	CREB1	chr5:179636101-179636456	A549	lung:	n/a	n/a
19	YY1	chr5:179635940-179636449	HepG2	liver:	n/a	chr5:179636088-179636102 chr5:179636317-179636331 chr5:179636190-179636199 chr5:179636162-179636176
20	RAD21	chr5:179635969-179636486	H1-hESC	embryonic stem cell:	n/a	chr5:179636218-179636232 chr5:179636299-179636312 chr5:179636214-179636233 chr5:179636470-179636479 chr5:179636407-179636419
21	GABPA	chr5:179636110-179636441	H1-hESC	embryonic stem cell:	n/a	chr5:179636284-179636293 chr5:179636256-179636265 chr5:179636249-179636258
22	BACH1	chr5:179636266-179636486	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr5:179635941-179636509	IMR90	lung:	n/a	n/a
24	CTCF	chr5:179636063-179636446	HepG2	liver:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
25	MAX	chr5:179635524-179636461	HepG2	liver:	n/a	chr5:179635803-179635813
26	CTCF	chr5:179636014-179636479	A549	lung:	n/a	chr5:179636218-179636231 chr5:179636217-179636233 chr5:179636469-179636478 chr5:179636216-179636234 chr5:179636219-179636229 chr5:179636218-179636231
27	POLR2A	chr5:179636138-179636451	HCT-116	colon:	n/a	n/a
28	CTCF	chr5:179636380-179636530	HEK293	kidney:	n/a	chr5:179636469-179636478
29	CCNT2	chr5:179636115-179636506	K562	blood:	n/a	n/a
30	ZBTB7A	chr5:179636125-179636562	ECC-1	luminal epithelium:	n/a	chr5:179636217-179636226
31	MAX	chr5:179635344-179636518	A549	lung:	n/a	chr5:179635803-179635813
32	CTCF	chr5:179635398-179636967	A549	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
33	CTCF	chr5:179635460-179636498	MCF-7	breast:	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
34	RAD21	chr5:179636107-179636497	A549	lung:	n/a	chr5:179636218-179636232 chr5:179636299-179636312 chr5:179636214-179636233 chr5:179636470-179636479 chr5:179636407-179636419
35	RAD21	chr5:179635980-179636478	ECC-1	luminal epithelium:	n/a	chr5:179636218-179636232 chr5:179636299-179636312 chr5:179636214-179636233 chr5:179636407-179636419
36	CTCF	chr5:179635476-179636641	K562	blood:	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
37	MAX	chr5:179635983-179636468	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr5:179636006-179636456	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179636422-179636472	H1-hESC	embryonic stem cell:	embryo
2	chr5:179636422-179636472	AG09309	skin:	n/a
3	chr5:179636422-179636472	BJ	skin:	n/a
4	chr5:179636422-179636472	HRCEpiC	kidney:	n/a
5	chr5:179636422-179636472	T-47D	breast:	n/a
6	chr5:179636422-179636472	K562	blood:	n/a
7	chr5:179636422-179636472	AG09319	gingival:	n/a
8	chr5:179636422-179636472	HNPCEpiC	eye:	n/a
9	chr5:179636422-179636472	HMEC	breast:	n/a
10	chr5:179636422-179636472	HAEpiC	amniotic membrane:	n/a
11	chr5:179636422-179636472	HRPEpiC	eye:	n/a
12	chr5:179636422-179636472	GM12891	blood:	n/a
13	chr5:179636422-179636472	GM19239	blood:	n/a
14	chr5:179636422-179636472	HUVEC	blood vessel:	n/a
15	chr5:179636422-179636472	HRE	kidney:	n/a
16	chr5:179636422-179636472	GM12878	blood:	n/a
17	chr5:179636422-179636472	AoSMC	blood vessel:	n/a
18	chr5:179636422-179636472	NB4	blood:	n/a
19	chr5:179636422-179636472	GM06990	blood:	n/a
20	chr5:179636422-179636472	HCM	heart:	n/a
21	chr5:179636422-179636472	NT2-D1	testis:	n/a
22	chr5:179636422-179636472	IMR90	lung:	fetal
23	chr5:179636422-179636472	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:179636422-179636472	Hepatocyte	liver:	n/a
25	chr5:179636422-179636472	HL-60	blood:	n/a
26	chr5:179636422-179636472	SK-N-SH_RA	brain:	n/a
27	chr5:179636422-179636472	A549	lung:	n/a
28	chr5:179636422-179636472	SK-N-SH	brain:	n/a
29	chr5:179636422-179636472	LNCaP	prostate:	n/a
30	chr5:179636422-179636472	NHDF-neo	bronchial:	n/a
31	chr5:179636422-179636472	HEK293	kidney:	embryo
32	chr5:179636422-179636472	Jurkat	blood:	n/a
33	chr5:179636422-179636472	Caco-2	colon:	n/a
34	chr5:179636422-179636472	PANC-1	pancreas:	n/a
35	chr5:179636422-179636472	BE2_C	brain:	n/a
36	chr5:179636422-179636472	HIPEpiC	eye:	n/a
37	chr5:179636422-179636472	GM12892	blood:	n/a
38	chr5:179636422-179636472	AG10803	skin:	n/a
39	chr5:179636422-179636472	RPTEC	kidney:	n/a
40	chr5:179636422-179636472	PrEC	prostate:	n/a
41	chr5:179636422-179636472	NH-A	brain:	n/a
42	chr5:179636422-179636472	HCF	heart:	n/a
43	chr5:179636422-179636472	HCPEpiC	choroid plexus:	n/a
44	chr5:179636422-179636472	PFSK-1	brain:	n/a
45	chr5:179636422-179636472	AG04449	skin:	fetal
46	chr5:179636422-179636472	U87	brain:	n/a
47	chr5:179636422-179636472	SK-N-MC	brain:	n/a
48	chr5:179636422-179636472	HCT-116	colon:	n/a
49	chr5:179636422-179636472	SKMC	muscle:	n/a
50	chr5:179636422-179636472	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179636340..179638403-chr5:179650637..179652737,2	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

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:80 , 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	chr5:179634800-179636600	Enhancers	Gastric	stomach
4	chr5:179634800-179636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:179635200-179636800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:179635400-179636600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:179635600-179636600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:179635600-179636600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:179635600-179636600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:179635600-179636600	Active TSS	Fetal Brain Female	brain
11	chr5:179635600-179636600	Enhancers	Spleen	Spleen
12	chr5:179635800-179636600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr5:179635800-179636600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:179635800-179636600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:179635800-179636600	Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:179635800-179636600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:179635800-179636600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:179635800-179636600	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr5:179635800-179636600	Enhancers	Fetal Brain Male	brain
20	chr5:179635800-179636600	Active TSS	Left Ventricle	heart
21	chr5:179635800-179636600	Active TSS	Psoas Muscle	Psoas
22	chr5:179635800-179636600	Active TSS	HMEC	breast
23	chr5:179635800-179636600	Active TSS	HSMM	muscle
24	chr5:179635800-179636600	Active TSS	K562	blood
25	chr5:179635800-179636800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:179635800-179636800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:179635800-179636800	Active TSS	A549	lung
28	chr5:179635800-179636800	Active TSS	Hela-S3	cervix
29	chr5:179635800-179640000	Weak transcription	Brain Angular Gyrus	brain
30	chr5:179635800-179640600	Weak transcription	Fetal Kidney	kidney
31	chr5:179636000-179636600	Enhancers	Primary hematopoietic stem cells	blood
32	chr5:179636200-179636600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:179636200-179636600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr5:179636200-179636600	Bivalent Enhancer	Esophagus	oesophagus
35	chr5:179636200-179636600	Transcr. at gene 5' and 3'	Right Atrium	heart
36	chr5:179636200-179636600	Flanking Active TSS	Right Ventricle	heart
37	chr5:179636200-179636800	Enhancers	Placenta	Placenta
38	chr5:179636200-179636800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr5:179636400-179636600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:179636400-179636600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:179636400-179636600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:179636400-179636600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:179636400-179636600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:179636400-179636600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:179636400-179636600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr5:179636400-179636600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr5:179636400-179636600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr5:179636400-179636600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr5:179636400-179636600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr5:179636400-179636600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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