Variant report

Variant	rs62375113
Chromosome Location	chr5:118666118-118666119
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	ZBTB7A	chr5:118666101-118666749	K562	blood:	n/a	n/a
2	IRF1	chr5:118665768-118666872	K562	blood:	n/a	chr5:118665888-118665901 chr5:118665890-118665900 chr5:118665886-118665900 chr5:118665864-118665873
3	YY1	chr5:118666094-118666685	K562	blood:	n/a	n/a
4	EGR1	chr5:118666031-118666571	K562	blood:	n/a	n/a
5	POLR2A	chr5:118665375-118666928	PBDE	blood:	n/a	n/a
6	MAZ	chr5:118665042-118666765	K562	blood:	n/a	n/a
7	STAT5A	chr5:118665760-118666776	K562	blood:	n/a	n/a
8	POLR2A	chr5:118665998-118666668	K562	blood:	n/a	n/a
9	MAFF	chr5:118665917-118666657	K562	blood:	n/a	n/a
10	CEBPD	chr5:118665852-118667010	K562	blood:	n/a	n/a
11	MAX	chr5:118666043-118666878	K562	blood:	n/a	n/a
12	CEBPB	chr5:118665787-118667022	K562	blood:	n/a	chr5:118666815-118666826 chr5:118666814-118666825
13	UBTF	chr5:118666055-118666883	K562	blood:	n/a	n/a
14	ZNF274	chr5:118666059-118666509	K562	blood:	n/a	n/a
15	GATA1	chr5:118664659-118667087	PBDE	blood:	n/a	chr5:118666137-118666154 chr5:118666483-118666492 chr5:118666485-118666492 chr5:118666097-118666109
16	POLR2A	chr5:118666012-118666859	K562	blood:	n/a	n/a
17	HDAC2	chr5:118666070-118666719	K562	blood:	n/a	chr5:118666250-118666269 chr5:118666484-118666493
18	SMARCA4	chr5:118665735-118666687	K562	blood:	n/a	n/a
19	BHLHE40	chr5:118665485-118666927	K562	blood:	n/a	n/a
20	ZNF384	chr5:118665819-118667060	K562	blood:	n/a	n/a
21	RCOR1	chr5:118665738-118666982	K562	blood:	n/a	n/a
22	REST	chr5:118666063-118666587	K562	blood:	n/a	n/a
23	POLR2A	chr5:118665927-118666666	K562	blood:	n/a	n/a
24	MAX	chr5:118666060-118666818	K562	blood:	n/a	n/a
25	TAF1	chr5:118666070-118666584	K562	blood:	n/a	n/a
26	ATF3	chr5:118665949-118666593	K562	blood:	n/a	n/a
27	POLR2A	chr5:118666047-118666652	HL-60	blood:	n/a	n/a
28	HCFC1	chr5:118665793-118666808	K562	blood:	n/a	n/a
29	CREB1	chr5:118665804-118666885	K562	blood:	n/a	n/a
30	POLR2A	chr5:118665755-118666898	K562	blood:	n/a	n/a
31	EP300	chr5:118665949-118666732	K562	blood:	n/a	n/a
32	IRF1	chr5:118665963-118667089	K562	blood:	n/a	n/a
33	JUN	chr5:118665936-118666725	K562	blood:	n/a	n/a
34	GATA1	chr5:118666079-118666664	K562	blood:	n/a	chr5:118666137-118666154 chr5:118666483-118666492 chr5:118666485-118666492 chr5:118666097-118666109
35	SMARCB1	chr5:118665813-118666843	K562	blood:	n/a	n/a
36	CBX3	chr5:118666029-118666804	K562	blood:	n/a	n/a
37	HMGN3	chr5:118665815-118666743	K562	blood:	n/a	chr5:118666484-118666491
38	GTF2F1	chr5:118665917-118666571	K562	blood:	n/a	n/a
39	MYC	chr5:118665447-118666894	K562	blood:	n/a	n/a
40	ATF1	chr5:118665638-118666756	K562	blood:	n/a	n/a
41	CEBPB	chr5:118666025-118666569	K562	blood:	n/a	n/a
42	MAX	chr5:118666053-118666520	NB4	blood:	n/a	n/a
43	GATA2	chr5:118666058-118666520	HUVEC	blood vessel:	n/a	chr5:118666145-118666159 chr5:118666137-118666154 chr5:118666483-118666492 chr5:118666485-118666492 chr5:118666097-118666109
44	PML	chr5:118665688-118666753	K562	blood:	n/a	n/a
45	MYC	chr5:118665459-118667383	K562	blood:	n/a	n/a
46	GATA2	chr5:118665962-118666876	K562	blood:	n/a	chr5:118666145-118666159 chr5:118666137-118666154 chr5:118666483-118666492 chr5:118666485-118666492 chr5:118666097-118666109
47	YY1	chr5:118666066-118666797	K562	blood:	n/a	n/a
48	REST	chr5:118666022-118666597	K562	blood:	n/a	n/a
49	EP300	chr5:118665722-118668426	K562	blood:	n/a	chr5:118666931-118666945 chr5:118667809-118667823 chr5:118665885-118665899 chr5:118666930-118666944
50	TBL1XR1	chr5:118665572-118666754	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118643237..118645769-chr5:118664741..118667190,3	K562	blood:
2	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:
3	chr5:118665150..118667137-chr5:118667473..118670063,2	K562	blood:
4	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:
5	chr5:118665304..118666908-chr5:118684151..118685664,2	K562	blood:
6	chr5:118405258..118407734-chr5:118663807..118667698,3	K562	blood:

Variant related genes	Relation type
TNFAIP8	TF binding region
ENSG00000172869	Chromatin interaction
ENSG00000145779	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56329027	0.98[EUR][1000 genomes]
rs62375111	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786132	0.81[EUR][1000 genomes]
rs986649	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118658200-118670400	Weak transcription	Lung	lung
2	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:118660200-118666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:118660200-118678600	Weak transcription	HepG2	liver
6	chr5:118660400-118668600	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:118660400-118670400	Weak transcription	Right Atrium	heart
8	chr5:118661000-118666200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:118661800-118667000	Enhancers	Fetal Heart	heart
10	chr5:118662200-118666200	Weak transcription	Left Ventricle	heart
11	chr5:118662200-118667200	Weak transcription	HMEC	breast
12	chr5:118662600-118666600	Enhancers	Fetal Stomach	stomach
13	chr5:118662600-118667000	Genic enhancers	Fetal Thymus	thymus
14	chr5:118662600-118669000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:118662600-118670400	Weak transcription	Right Ventricle	heart
16	chr5:118662800-118668800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr5:118663000-118667200	Weak transcription	Spleen	Spleen
18	chr5:118663000-118669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:118663200-118666200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:118663200-118666400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:118663400-118667600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:118663600-118666600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:118663600-118668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:118663800-118666400	Enhancers	Fetal Lung	lung
25	chr5:118663800-118666600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr5:118663800-118667200	Enhancers	Colon Smooth Muscle	Colon
27	chr5:118663800-118667600	Enhancers	Duodenum Mucosa	Duodenum
28	chr5:118663800-118669200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr5:118664000-118666200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:118664000-118666400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:118664000-118666600	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:118664000-118667400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr5:118664000-118667600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr5:118664000-118668800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:118664200-118666400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:118664200-118667600	Enhancers	Placenta	Placenta
37	chr5:118664200-118668400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:118664200-118671600	Weak transcription	Small Intestine	intestine
39	chr5:118664200-118673400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
41	chr5:118664600-118666200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr5:118664600-118666600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
43	chr5:118664600-118669200	Enhancers	Colonic Mucosa	Colon
44	chr5:118664800-118668800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:118664800-118670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:118664800-118673000	Weak transcription	HSMM	muscle
47	chr5:118665000-118666600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr5:118665000-118667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:118665000-118667600	Enhancers	Esophagus	oesophagus
50	chr5:118665000-118667600	Enhancers	Pancreas	Pancrea

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