Variant report

Variant	rs35375288
Chromosome Location	chr4:6993487-6993488
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	FOS	chr4:6993456-6994213	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632
2	MXI1	chr4:6992776-6994296	IMR90	lung:	n/a	n/a
3	SIN3AK20	chr4:6993403-6993842	SK-N-SH	brain:	n/a	n/a
4	MYC	chr4:6993454-6994131	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr4:6993401-6993972	IMR90	lung:	n/a	n/a
6	FOS	chr4:6993349-6993942	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632
7	STAT3	chr4:6993467-6994041	MCF10A-Er-Src	breast:	n/a	chr4:6993727-6993739
8	MAX	chr4:6993464-6993948	SK-N-SH	brain:	n/a	n/a
9	NFIC	chr4:6993314-6994045	SK-N-SH	brain:	n/a	chr4:6993682-6993699 chr4:6993682-6993698
10	POLR2A	chr4:6992742-6995081	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:6993406-6993945	MCF10A-Er-Src	breast:	n/a	n/a
12	RUNX3	chr4:6993154-6993493	GM12878	blood:	n/a	n/a
13	FOS	chr4:6993465-6994104	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632
14	STAT3	chr4:6993416-6993985	MCF10A-Er-Src	breast:	n/a	chr4:6993727-6993739
15	POLR2A	chr4:6993455-6993806	SK-N-SH	brain:	n/a	n/a
16	FOS	chr4:6993460-6993771	HUVEC	blood vessel:	n/a	chr4:6993625-6993633 chr4:6993625-6993632
17	RUNX3	chr4:6993298-6993555	GM12878	blood:	n/a	n/a
18	RAD21	chr4:6993422-6993994	IMR90	lung:	n/a	n/a
19	FOS	chr4:6993459-6994201	MCF10A-Er-Src	breast:	n/a	chr4:6993625-6993633 chr4:6993625-6993632

No.	Distal block	Cell Line	Cell type
1	chr4:6993091..6995373-chr4:7043423..7046431,3	MCF-7	breast:
2	chr4:6908809..6911215-chr4:6990907..6993739,2	K562	blood:
3	chr4:6990980..6993517-chr4:7046919..7049027,2	K562	blood:
4	chr4:6992471..6995105-chr4:7038359..7040025,2	MCF-7	breast:
5	chr4:6988129..6989921-chr4:6992421..6994173,2	K562	blood:
6	chr4:6991995..6993744-chr4:7069463..7071371,2	MCF-7	breast:

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000187904	TF binding region
ENSG00000173013	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000245748	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10937773	0.88[AFR][1000 genomes]
rs10937775	1.00[AMR][1000 genomes]
rs13143427	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234792	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4376137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4423873	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4689058	0.82[AFR][1000 genomes]
rs6446554	0.82[AFR][1000 genomes]
rs6446555	0.88[AFR][1000 genomes]
rs6446558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835187	1.00[AMR][1000 genomes]
rs6835407	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835568	0.95[AFR][1000 genomes]
rs7689324	1.00[AFR][1000 genomes];1.00[AMR][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	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr4:6989600-6994400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:6989800-6994000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr4:6989800-6998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:6990000-6994200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:6990000-6997400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:6990200-6993800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:6990200-6994400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr4:6990200-6995200	Enhancers	Brain Substantia Nigra	brain
9	chr4:6990200-6995800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:6990400-6993800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:6990400-6994200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr4:6990400-6994200	Enhancers	Psoas Muscle	Psoas
13	chr4:6990400-6994400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:6990400-6994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:6990600-6994400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:6990600-6995600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:6991000-6994200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr4:6991000-6994400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:6991000-6994400	Weak transcription	Fetal Kidney	kidney
21	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:6991200-6995200	Weak transcription	Placenta	Placenta
23	chr4:6991200-6995400	Enhancers	Brain Hippocampus Middle	brain
24	chr4:6991200-6995800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:6991200-6996000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:6991400-6995400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:6991400-6996000	Weak transcription	Fetal Lung	lung
28	chr4:6991400-7000800	Weak transcription	Colonic Mucosa	Colon
29	chr4:6991600-6993600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:6991600-6993800	Weak transcription	HepG2	liver
31	chr4:6991600-6994000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:6991600-6994200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:6991600-6994400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:6991600-7000000	Weak transcription	Hela-S3	cervix
35	chr4:6991800-6995200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:6991800-6995800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:6991800-6995800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:6992000-6994400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:6992200-6994000	Genic enhancers	Brain Germinal Matrix	brain
40	chr4:6992200-6994000	Enhancers	Left Ventricle	heart
41	chr4:6992200-6994200	Enhancers	Fetal Heart	heart
42	chr4:6992200-6994600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr4:6992200-6994800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:6992200-6995400	Genic enhancers	Fetal Thymus	thymus
45	chr4:6992200-6995600	Enhancers	Primary B cells from cord blood	blood
46	chr4:6992400-6993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:6992400-6993800	Strong transcription	Primary T cells from cord blood	blood
48	chr4:6992400-6994000	Enhancers	Primary hematopoietic stem cells	blood
49	chr4:6992400-6994200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:6992400-6994200	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links