Variant report

Variant	rs4469214
Chromosome Location	chr5:118406702-118406703
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	SP1	chr5:118406119-118406897	H1-hESC	embryonic stem cell:	n/a	chr5:118406612-118406624 chr5:118406612-118406624
2	POLR2A	chr5:118405802-118407392	K562	blood:	n/a	n/a
3	USF2	chr5:118405759-118406842	Hela-S3	cervix:	n/a	n/a
4	TCF12	chr5:118406277-118407277	ECC-1	luminal epithelium:	n/a	chr5:118406735-118406745
5	POLR2A	chr5:118406189-118407521	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr5:118406136-118407279	MCF-7	breast:	n/a	n/a
7	PML	chr5:118406025-118407127	K562	blood:	n/a	n/a
8	POLR2A	chr5:118406058-118407358	HCT-116	colon:	n/a	n/a
9	E2F6	chr5:118406099-118407436	K562	blood:	n/a	chr5:118407173-118407183 chr5:118406366-118406375
10	USF1	chr5:118406002-118406925	A549	lung:	n/a	chr5:118406887-118406903
11	NFYA	chr5:118406239-118407036	Hela-S3	cervix:	n/a	n/a
12	EGR1	chr5:118406664-118406934	GM12878	blood:	n/a	chr5:118406917-118406926 chr5:118406810-118406820
13	SIN3AK20	chr5:118406667-118406992	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr5:118406697-118407070	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr5:118405871-118407615	K562	blood:	n/a	chr5:118407061-118407071 chr5:118406183-118406196 chr5:118406185-118406194 chr5:118406184-118406195 chr5:118406187-118406194 chr5:118406183-118406196 chr5:118406183-118406191
16	MAX	chr5:118405698-118407547	K562	blood:	n/a	chr5:118407061-118407071 chr5:118406183-118406196 chr5:118406185-118406194 chr5:118406184-118406195 chr5:118406187-118406194 chr5:118406183-118406196 chr5:118406183-118406191
17	BCLAF1	chr5:118406118-118407095	GM12878	blood:	n/a	chr5:118406362-118406375 chr5:118406895-118406908
18	CEBPB	chr5:118406690-118406999	HepG2	liver:	n/a	chr5:118406872-118406885
19	ELF1	chr5:118406038-118407332	GM12878	blood:	n/a	n/a
20	ZNF143	chr5:118405834-118407236	Hela-S3	cervix:	n/a	chr5:118406384-118406393 chr5:118406377-118406395 chr5:118406386-118406395
21	TBP	chr5:118405749-118406916	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:118405927-118407475	U87	brain:	n/a	n/a
23	THAP1	chr5:118406399-118406839	K562	blood:	n/a	n/a
24	MYC	chr5:118406657-118407503	MCF-7	breast:	n/a	chr5:118407061-118407071
25	SP1	chr5:118406120-118407010	HepG2	liver:	n/a	chr5:118406612-118406624 chr5:118406612-118406624
26	TCF3	chr5:118406652-118407225	GM12878	blood:	n/a	chr5:118407016-118407032
27	POLR2A	chr5:118406196-118407531	GM15510	blood:	n/a	n/a
28	POLR2A	chr5:118406074-118407644	K562	blood:	n/a	n/a
29	EP300	chr5:118406694-118407100	T-47D	breast:	n/a	chr5:118407010-118407023 chr5:118406851-118406864
30	MAX	chr5:118405952-118407526	MCF-7	breast:	n/a	chr5:118407061-118407071 chr5:118406183-118406196 chr5:118406185-118406194 chr5:118406184-118406195 chr5:118406187-118406194 chr5:118406183-118406196 chr5:118406183-118406191
31	ZNF384	chr5:118406054-118407292	K562	blood:	n/a	n/a
32	MAX	chr5:118406106-118407416	H1-hESC	embryonic stem cell:	n/a	chr5:118407061-118407071 chr5:118406183-118406196 chr5:118406185-118406194 chr5:118406184-118406195 chr5:118406187-118406194 chr5:118406183-118406196 chr5:118406183-118406191
33	POLR2A	chr5:118406129-118407505	GM18526	blood:	n/a	n/a
34	POU2F2	chr5:118406117-118407397	GM12878	blood:	n/a	n/a
35	PBX3	chr5:118406622-118407176	GM12878	blood:	n/a	chr5:118407014-118407023
36	MBD4	chr5:118406059-118407001	HepG2	liver:	n/a	n/a
37	POLR2A	chr5:118405921-118407493	U87	brain:	n/a	n/a
38	ZBTB33	chr5:118406053-118407286	SK-N-SH	brain:	n/a	chr5:118406754-118406763
39	ZBTB33	chr5:118406378-118407113	GM12878	blood:	n/a	chr5:118406754-118406763
40	MAFK	chr5:118405952-118406885	K562	blood:	n/a	n/a
41	FOXP2	chr5:118406641-118407069	SK-N-MC	brain:	n/a	n/a
42	CEBPD	chr5:118406117-118407056	K562	blood:	n/a	n/a
43	ZMIZ1	chr5:118405862-118407351	K562	blood:	n/a	n/a
44	POLR2A	chr5:118406173-118407515	GM12878	blood:	n/a	n/a
45	CEBPD	chr5:118406661-118407257	HepG2	liver:	n/a	n/a
46	POLR2A	chr5:118406072-118407377	HCT-116	colon:	n/a	n/a
47	POLR2A	chr5:118406035-118407289	SK-N-SH	brain:	n/a	n/a
48	HMGN3	chr5:118406603-118407559	K562	blood:	n/a	n/a
49	ETS1	chr5:118406032-118407043	A549	lung:	n/a	chr5:118406754-118406763 chr5:118406757-118406766 chr5:118406918-118406925 chr5:118406383-118406396 chr5:118406384-118406397 chr5:118406413-118406426 chr5:118406917-118406931
50	POLR2A	chr5:118405769-118407601	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118323796..118326237-chr5:118405565..118407849,3	MCF-7	breast:
2	chr5:118406323..118408758-chr5:118602921..118606339,4	MCF-7	breast:
3	chr12:120729443..120729969-chr5:118406270..118407210,2	Hela-S3	cervix:
4	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:
5	chr3:13461141..13461830-chr5:118406143..118406866,2	Hela-S3	cervix:
6	chr12:56435851..56438826-chr5:118405352..118408278,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-1	chr5:118405183-118406899	NONHSAT103417

Variant related genes	Relation type
ENSG00000239011	TF binding region
ENSG00000249494	TF binding region
DMXL1	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000132182	Chromatin interaction
ENSG00000169570	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000145779	Chromatin interaction

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

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

rs_ID	r²[population]
rs6863641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863818	1.00[AMR][1000 genomes]
rs7341052	1.00[MEX][hapmap]
rs7731966	1.00[AMR][1000 genomes]

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	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118405200-118410000	Active TSS	K562	blood
2	chr5:118405400-118408000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:118405400-118408000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:118405400-118408200	Active TSS	A549	lung
5	chr5:118405400-118408200	Active TSS	HepG2	liver
6	chr5:118405400-118408400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:118405400-118408400	Active TSS	Hela-S3	cervix
8	chr5:118405400-118408600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:118405400-118409200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:118405600-118407600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:118405600-118407600	Active TSS	Rectal Smooth Muscle	rectum
12	chr5:118405600-118407800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:118405600-118407800	Active TSS	Colonic Mucosa	Colon
14	chr5:118405600-118407800	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr5:118405600-118408000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:118405600-118408000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:118405600-118408000	Active TSS	HSMM	muscle
18	chr5:118405600-118408400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:118405600-118408400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:118405600-118408400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:118405600-118408400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:118405600-118409000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:118405600-118409200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:118405600-118409200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:118405600-118410000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:118405600-118410800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:118405800-118406800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:118405800-118407000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:118405800-118407000	Active TSS	Brain Germinal Matrix	brain
30	chr5:118405800-118407600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:118405800-118407600	Active TSS	Esophagus	oesophagus
32	chr5:118405800-118407600	Active TSS	Gastric	stomach
33	chr5:118405800-118407600	Active TSS	Pancreas	Pancrea
34	chr5:118405800-118407800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:118405800-118407800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr5:118405800-118407800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:118405800-118407800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:118405800-118407800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:118405800-118407800	Active TSS	Left Ventricle	heart
40	chr5:118405800-118407800	Active TSS	Right Ventricle	heart
41	chr5:118405800-118407800	Active TSS	Stomach Mucosa	stomach
42	chr5:118405800-118408000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:118405800-118408000	Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:118405800-118408000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:118405800-118408000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr5:118405800-118408000	Active TSS	Fetal Lung	lung
47	chr5:118405800-118408400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:118405800-118408400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr5:118405800-118408400	Active TSS	Fetal Heart	heart
50	chr5:118405800-118408400	Active TSS	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links