Variant report

Variant	rs73794431
Chromosome Location	chr4:1124611-1124612
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	ZNF143	chr4:1124367-1124717	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:1124480-1124630	HCPEpiC	choroid plexus:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
3	TBL1XR1	chr4:1124416-1124749	K562	blood:	n/a	n/a
4	CTCF	chr4:1124500-1124650	WERI-Rb-1	eye:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
5	CTCF	chr4:1124291-1124674	HepG2	liver:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
6	PAX5	chr4:1124403-1124730	GM12878	blood:	n/a	chr4:1124619-1124628
7	PAX5	chr4:1124381-1124746	GM12878	blood:	n/a	chr4:1124619-1124628
8	CTCF	chr4:1124370-1124740	GM19239	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
9	MYC	chr4:1124333-1124720	NB4	blood:	n/a	chr4:1124390-1124400
10	CTCF	chr4:1124520-1124670	WI-38	lung:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
11	RAD21	chr4:1124317-1124700	GM12878	blood:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
12	SMC3	chr4:1124241-1124832	GM12878	blood:	n/a	chr4:1124531-1124545
13	CTCF	chr4:1124273-1124894	HCT-116	colon:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
14	RAD21	chr4:1124234-1124839	HepG2	liver:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
15	MAX	chr4:1124350-1124732	NB4	blood:	n/a	chr4:1124390-1124400
16	RCOR1	chr4:1124401-1124696	K562	blood:	n/a	n/a
17	RAD21	chr4:1124378-1124800	H1-hESC	embryonic stem cell:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
18	CTCF	chr4:1124334-1124733	Spleen_OC	spleen:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
19	RAD21	chr4:1124243-1124871	MCF-7	breast:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
20	CTCF	chr4:1124480-1124630	GM12873	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
21	RAD21	chr4:1124245-1124835	MCF-7	breast:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
22	RAD21	chr4:1124337-1124756	GM12878	blood:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
23	CTCF	chr4:1124163-1125199	SK-N-SH	brain:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
24	CTCF	chr4:1124329-1124754	A549	lung:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
25	RAD21	chr4:1124334-1124786	Hela-S3	cervix:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
26	SMC3	chr4:1124334-1124850	Hela-S3	cervix:	n/a	chr4:1124531-1124545
27	MYC	chr4:1124499-1124613	HUVEC	blood vessel:	n/a	n/a
28	MAZ	chr4:1124247-1124957	IMR90	lung:	n/a	chr4:1124390-1124400
29	YY1	chr4:1124376-1124627	GM12878	blood:	n/a	n/a
30	EP300	chr4:1124350-1124741	K562	blood:	n/a	n/a
31	RAD21	chr4:1124250-1124946	IMR90	lung:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
32	CTCF	chr4:1124333-1124763	K562	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
33	SMC3	chr4:1124328-1124762	K562	blood:	n/a	chr4:1124531-1124545
34	SMC3	chr4:1124200-1124789	HepG2	liver:	n/a	chr4:1124531-1124545
35	EGR1	chr4:1124369-1124664	K562	blood:	n/a	chr4:1124500-1124513 chr4:1124499-1124514 chr4:1124497-1124511 chr4:1124388-1124398
36	RAD21	chr4:1124130-1124913	ECC-1	luminal epithelium:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
37	CTCF	chr4:1124480-1124630	GM12865	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
38	CTCF	chr4:1124170-1124969	HCT-116	colon:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
39	RAD21	chr4:1124330-1124753	HepG2	liver:	n/a	chr4:1124532-1124539 chr4:1124531-1124545 chr4:1124530-1124549
40	MAFK	chr4:1124402-1124748	K562	blood:	n/a	n/a
41	SMC3	chr4:1124097-1125572	SK-N-SH	brain:	n/a	chr4:1124531-1124545 chr4:1124179-1124186
42	CTCF	chr4:1124397-1124679	Hela-S3	cervix:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
43	CTCF	chr4:1124334-1124722	K562	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
44	CTCF	chr4:1124369-1124675	GM13977	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
45	CTCF	chr4:1124406-1124674	MCF-7	breast:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
46	CTCF	chr4:1124410-1124680	HepG2	liver:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
47	CTCF	chr4:1124378-1124675	Pancreas_OC	pancreas:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
48	CTCF	chr4:1124397-1124658	GM10248	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
49	CTCF	chr4:1124480-1124630	GM12872	blood:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546
50	CTCF	chr4:1124480-1124630	HPF	lung:	n/a	chr4:1124534-1124542 chr4:1124529-1124547 chr4:1124531-1124552 chr4:1124530-1124546

No.	Distal block	Cell Line	Cell type
1	chr4:1123291..1125205-chr4:1159866..1162630,3	MCF-7	breast:
2	chr4:1074792..1077511-chr4:1122499..1125248,2	MCF-7	breast:
3	chr4:1124115..1124727-chr4:1345361..1346266,3	MCF-7	breast:
4	chr4:1121885..1124644-chr4:1239644..1241550,2	MCF-7	breast:
5	chr4:1124052..1124996-chr4:1345282..1346335,6	K562	blood:
6	chr4:1123569..1125967-chr4:1156643..1158968,2	K562	blood:
7	chr4:1003683..1004235-chr4:1124404..1125008,2	K562	blood:
8	chr4:1124107..1124994-chr4:1160647..1161547,3	K562	blood:

Variant related genes	Relation type
ENSG00000251652	TF binding region
ENSG00000273179	Chromatin interaction
ENSG00000178222	Chromatin interaction
ENSG00000127418	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17164350	0.87[AFR][1000 genomes]
rs55644007	1.00[AMR][1000 genomes]
rs55676333	1.00[AMR][1000 genomes]
rs55752278	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55759903	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56047112	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56079563	0.87[AFR][1000 genomes]
rs56173468	1.00[AMR][1000 genomes]
rs56265368	1.00[AMR][1000 genomes]
rs56896955	0.86[AFR][1000 genomes]
rs57265466	1.00[AMR][1000 genomes]
rs57280685	1.00[AMR][1000 genomes]
rs59830952	1.00[AMR][1000 genomes]
rs61167830	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061799	1.00[AMR][1000 genomes]
rs73063716	1.00[AMR][1000 genomes]
rs73063723	1.00[AMR][1000 genomes]
rs73072277	1.00[AMR][1000 genomes]
rs73074159	1.00[AMR][1000 genomes]
rs73792265	1.00[AMR][1000 genomes]
rs73792270	1.00[AMR][1000 genomes]
rs73792282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793104	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793105	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793106	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793108	1.00[AMR][1000 genomes]
rs73793931	1.00[AMR][1000 genomes]
rs73793932	1.00[AMR][1000 genomes]
rs73794432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794436	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794438	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794439	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7685842	1.00[AMR][1000 genomes]
rs7686048	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1004727	chr4:1015652-1158207	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv536984	chr4:1015652-1158207	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1000594	chr4:1045099-1129975	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1001165	chr4:1051512-1129975	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1123800-1125400	Enhancers	Pancreas	Pancrea
2	chr4:1123800-1126000	Enhancers	Fetal Brain Male	brain
3	chr4:1124000-1124800	Enhancers	Adipose Nuclei	Adipose
4	chr4:1124000-1124800	Enhancers	Colon Smooth Muscle	Colon
5	chr4:1124200-1124800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:1124200-1124800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:1124200-1124800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr4:1124200-1124800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:1124200-1124800	Enhancers	Placenta	Placenta
10	chr4:1124200-1124800	Enhancers	Fetal Stomach	stomach
11	chr4:1124200-1124800	Enhancers	Right Ventricle	heart
12	chr4:1124200-1125200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:1124400-1124800	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:1124400-1124800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:1124400-1124800	Enhancers	Fetal Brain Female	brain
16	chr4:1124400-1130000	Weak transcription	Aorta	Aorta
17	chr4:1124600-1124800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:1124600-1124800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:1124600-1124800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:1124600-1124800	Enhancers	Primary T cells from cord blood	blood
21	chr4:1124600-1124800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr4:1124600-1124800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:1124600-1124800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:1124600-1124800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:1124600-1124800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:1124600-1124800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:1124600-1124800	Enhancers	Liver	Liver
28	chr4:1124600-1124800	Enhancers	Brain Anterior Caudate	brain
29	chr4:1124600-1124800	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:1124600-1124800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr4:1124600-1124800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr4:1124600-1124800	Enhancers	Brain Substantia Nigra	brain
33	chr4:1124600-1124800	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:1124600-1124800	Enhancers	Fetal Intestine Large	intestine
35	chr4:1124600-1124800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
36	chr4:1124600-1124800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:1124600-1124800	Enhancers	Fetal Thymus	thymus
38	chr4:1124600-1124800	Enhancers	Rectal Smooth Muscle	rectum
39	chr4:1124600-1124800	Enhancers	Small Intestine	intestine
40	chr4:1124600-1124800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr4:1124600-1124800	Enhancers	Thymus	Thymus
42	chr4:1124600-1124800	Flanking Active TSS	Dnd41	blood
43	chr4:1124600-1124800	Enhancers	GM12878-XiMat	blood
44	chr4:1124600-1124800	Enhancers	Monocytes-CD14+_RO01746	blood

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