Variant report

Variant	rs6836038
Chromosome Location	chr4:74573762-74573763
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	POLR2A	chr4:74573549-74573930	K562	blood:	n/a	n/a
2	GATA3	chr4:74573498-74574086	MCF-7	breast:	n/a	chr4:74573790-74573798 chr4:74573786-74573802
3	TCF12	chr4:74573494-74574171	ECC-1	luminal epithelium:	n/a	n/a
4	BCLAF1	chr4:74573593-74574039	K562	blood:	n/a	n/a
5	PML	chr4:74573606-74574026	K562	blood:	n/a	chr4:74573821-74573830
6	JUN	chr4:74573645-74573989	K562	blood:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
7	POLR2A	chr4:74573656-74573927	Hela-S3	cervix:	n/a	n/a
8	TEAD4	chr4:74573515-74574258	K562	blood:	n/a	n/a
9	TEAD4	chr4:74573527-74574132	SK-N-SH	brain:	n/a	n/a
10	TAF1	chr4:74573707-74573944	K562	blood:	n/a	n/a
11	SP1	chr4:74573450-74574183	HCT-116	colon:	n/a	n/a
12	REST	chr4:74573702-74573868	PANC-1	pancreas:	n/a	n/a
13	TBP	chr4:74573562-74574054	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr4:74573559-74574018	K562	blood:	n/a	n/a
15	EP300	chr4:74573592-74573902	SK-N-SH_RA	brain:	n/a	chr4:74573889-74573898
16	TCF7L2	chr4:74573288-74573863	Hela-S3	cervix:	n/a	chr4:74573820-74573829
17	TBL1XR1	chr4:74573625-74574000	K562	blood:	n/a	n/a
18	JUN	chr4:74573153-74574729	K562	blood:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
19	SPI1	chr4:74573653-74574109	HL-60	blood:	n/a	chr4:74573890-74573897 chr4:74573889-74573898
20	RAD21	chr4:74573705-74573902	SK-N-SH_RA	brain:	n/a	n/a
21	CCNT2	chr4:74573589-74573827	K562	blood:	n/a	n/a
22	EP300	chr4:74573589-74574312	Hela-S3	cervix:	n/a	chr4:74573930-74573944 chr4:74573945-74573959 chr4:74573889-74573898
23	RCOR1	chr4:74573633-74574020	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr4:74573597-74573777	ProgFib	skin:	n/a	n/a
25	STAT3	chr4:74573577-74573980	MCF10A-Er-Src	breast:	n/a	chr4:74573888-74573895
26	CBX3	chr4:74573545-74574037	HCT-116	colon:	n/a	n/a
27	JUND	chr4:74573594-74573978	A549	lung:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
28	GATA2	chr4:74573499-74573954	K562	blood:	n/a	chr4:74573786-74573802
29	ZMIZ1	chr4:74573665-74574011	K562	blood:	n/a	n/a
30	EP300	chr4:74573517-74574534	K562	blood:	n/a	chr4:74573930-74573944 chr4:74573945-74573959 chr4:74573889-74573898 chr4:74574399-74574409
31	RCOR1	chr4:74573689-74573987	K562	blood:	n/a	n/a
32	UBTF	chr4:74573650-74574168	K562	blood:	n/a	n/a
33	NFIC	chr4:74573536-74574066	SK-N-SH	brain:	n/a	n/a
34	JUND	chr4:74573594-74574084	Hela-S3	cervix:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
35	IRF1	chr4:74573599-74574403	K562	blood:	n/a	chr4:74573944-74573954 chr4:74573944-74573958
36	MAX	chr4:74573557-74574061	SK-N-SH	brain:	n/a	n/a
37	CEBPD	chr4:74573634-74573967	K562	blood:	n/a	n/a
38	FOSL2	chr4:74573537-74574095	SK-N-SH	brain:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
39	FOSL1	chr4:74573488-74574123	HCT-116	colon:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
40	POLR2A	chr4:74573583-74574439	HUVEC	blood vessel:	n/a	n/a
41	REST	chr4:74573673-74573865	K562	blood:	n/a	n/a
42	FOSL2	chr4:74573416-74574160	A549	lung:	n/a	chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573819-74573829 chr4:74573820-74573829 chr4:74573819-74573829
43	ZKSCAN1	chr4:74573053-74573941	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr4:74573656-74573974	SK-N-SH_RA	brain:	n/a	n/a
45	TCF12	chr4:74573448-74574168	A549	lung:	n/a	n/a
46	MAZ	chr4:74573616-74574053	K562	blood:	n/a	n/a
47	IRF1	chr4:74573641-74573938	K562	blood:	n/a	n/a
48	KAP1	chr4:74573187-74574372	HEK293	kidney:	n/a	chr4:74573821-74573830
49	MAX	chr4:74573512-74574441	A549	lung:	n/a	n/a
50	POLR2A	chr4:74573602-74573997	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:74572069..74574154-chr4:75022228..75024070,2	MCF-7	breast:
2	chr4:74571666..74575174-chr4:74576525..74580241,3	K562	blood:
3	chr4:74569886..74571730-chr4:74572414..74575134,2	MCF-7	breast:
4	chr4:74561984..74564157-chr4:74572990..74575349,2	K562	blood:
5	chr4:74572825..74575404-chr4:74599407..74602314,2	K562	blood:
6	chr4:74573010..74574962-chr4:74920043..74922609,2	K562	blood:

Variant related genes	Relation type
ENSG00000228277	TF binding region
ENSG00000248848	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029200	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10938089	0.96[ASN][1000 genomes]
rs10938091	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11938646	0.96[ASN][1000 genomes]
rs1247605	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247607	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247633	0.96[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247687	0.98[ASN][1000 genomes]
rs1247689	0.95[ASN][1000 genomes]
rs12508451	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12642878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643148	0.98[ASN][1000 genomes]
rs12646031	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358594	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1406498	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528910	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951702	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];0.98[ASN][1000 genomes]
rs1951704	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];0.98[ASN][1000 genomes]
rs2091587	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141467	0.98[ASN][1000 genomes]
rs2141468	0.96[ASN][1000 genomes]
rs2178291	0.98[ASN][1000 genomes]
rs2367273	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886918	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259030	0.95[ASN][1000 genomes]
rs4568212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4694633	0.98[ASN][1000 genomes]
rs56785010	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61101665	0.98[ASN][1000 genomes]
rs6446950	0.87[ASN][1000 genomes]
rs6446951	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446953	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6857472	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72865497	0.98[ASN][1000 genomes]
rs72865502	0.98[ASN][1000 genomes]
rs7655660	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7656501	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7656608	0.96[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657358	0.98[ASN][1000 genomes]
rs7660448	0.96[ASN][1000 genomes]
rs7660923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7681924	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7681932	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7682745	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7683759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689702	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942051	0.98[ASN][1000 genomes]
rs9991585	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74566800-74574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:74566800-74575400	Enhancers	HMEC	breast
3	chr4:74567800-74574000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:74568000-74573800	Enhancers	NHEK	skin
5	chr4:74568000-74574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:74568200-74574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:74568200-74574800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74568400-74574600	Enhancers	NHLF	lung
9	chr4:74569200-74576400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:74569800-74576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:74570000-74575200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:74570400-74573800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:74570400-74573800	Enhancers	Hela-S3	cervix
14	chr4:74570400-74574000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:74570600-74574000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:74570600-74578600	Enhancers	K562	blood
17	chr4:74570600-74581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:74571000-74574200	Weak transcription	Pancreas	Pancrea
19	chr4:74571400-74573800	Enhancers	HUVEC	blood vessel
20	chr4:74571400-74574000	Weak transcription	Primary B cells from cord blood	blood
21	chr4:74571400-74574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:74571400-74574600	Enhancers	NHDF-Ad	bronchial
23	chr4:74571400-74574600	Enhancers	Osteobl	bone
24	chr4:74572400-74574000	Weak transcription	HSMMtube	muscle
25	chr4:74572400-74574400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:74572600-74574200	Enhancers	NH-A	brain
27	chr4:74572800-74575600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:74572800-74576000	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:74573000-74574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:74573000-74574400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:74573000-74574400	Flanking Active TSS	A549	lung
32	chr4:74573200-74573800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:74573200-74573800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:74573200-74573800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:74573200-74573800	Enhancers	Duodenum Mucosa	Duodenum
36	chr4:74573200-74574000	Enhancers	Aorta	Aorta
37	chr4:74573200-74574400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr4:74573200-74574400	Enhancers	Fetal Thymus	thymus
39	chr4:74573200-74574400	Enhancers	Left Ventricle	heart
40	chr4:74573200-74574400	Enhancers	Thymus	Thymus
41	chr4:74573200-74574400	Enhancers	HSMM	muscle
42	chr4:74573200-74574400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:74573200-74576200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:74573400-74573800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:74573400-74574200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:74573400-74574200	Enhancers	Placenta	Placenta
47	chr4:74573400-74574200	Enhancers	Small Intestine	intestine
48	chr4:74573400-74574400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:74573400-74574400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:74573400-74574400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links