Variant report

Variant	rs673855
Chromosome Location	chr5:43037389-43037390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr5:43036692-43038919	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:43037380-43037530	HL-60	blood:	n/a	n/a
3	TCF12	chr5:43037247-43037681	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:43037205-43037804	K562	blood:	n/a	n/a
5	POLR2A	chr5:43036936-43037790	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr5:43037386-43037409	MCF-7	breast:	n/a	n/a
7	POLR2A	chr5:43036949-43038717	HL-60	blood:	n/a	n/a
8	CTCF	chr5:43037360-43037510	HCPEpiC	choroid plexus:	n/a	n/a
9	RCOR1	chr5:43036862-43039162	IMR90	lung:	n/a	n/a
10	POLR2A	chr5:43036710-43039237	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr5:43037360-43037510	AG04449	skin:	n/a	n/a
12	POLR2A	chr5:43036954-43037819	HL-60	blood:	n/a	n/a
13	POLR2A	chr5:43036958-43037947	H1-neurons	neurons:	n/a	n/a
14	CTBP2	chr5:43037214-43037728	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:43037280-43037430	HBMEC	blood vessel:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43029361..43030941-chr5:43036238..43037788,2	K562	blood:
2	chr5:43029265..43030861-chr5:43036238..43038466,2	K562	blood:
3	chr5:42907582..42909644-chr5:43037324..43039921,2	K562	blood:
4	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
5	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
6	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
7	chr5:42967335..42969495-chr5:43037103..43039655,2	K562	blood:
8	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
9	chr5:43036891..43039253-chr5:43074561..43077276,2	MCF-7	breast:
10	chr5:43008478..43012422-chr5:43036002..43039064,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215068	TF binding region
ENSG00000172262	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000251656	Chromatin interaction
ENSG00000272144	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10045186	0.91[GIH][hapmap]
rs10051990	0.84[EUR][1000 genomes]
rs10052644	0.84[EUR][1000 genomes]
rs10054331	0.84[EUR][1000 genomes]
rs10056788	0.91[GIH][hapmap]
rs10057416	0.96[EUR][1000 genomes]
rs10071791	0.88[AFR][1000 genomes]
rs10077219	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1122510	0.81[AFR][1000 genomes]
rs12110284	1.00[CEU][hapmap]
rs13357786	0.84[EUR][1000 genomes]
rs13357845	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872890	1.00[CEU][hapmap]
rs2085140	0.87[EUR][1000 genomes]
rs28490330	1.00[EUR][1000 genomes]
rs28520523	0.87[EUR][1000 genomes]
rs28609175	1.00[EUR][1000 genomes]
rs28628732	0.93[AFR][1000 genomes]
rs309946	1.00[CEU][hapmap]
rs56962140	0.88[EUR][1000 genomes]
rs585302	1.00[CEU][hapmap];0.89[LWK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs58980582	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs60859843	0.88[EUR][1000 genomes]
rs6451664	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6451666	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6858989	0.84[EUR][1000 genomes]
rs6859319	0.88[EUR][1000 genomes]
rs6867941	0.88[EUR][1000 genomes]
rs6869034	1.00[CEU][hapmap]
rs6886261	0.88[EUR][1000 genomes]
rs6886503	0.81[AFR][1000 genomes]
rs6887169	0.91[GIH][hapmap]
rs6890021	0.88[EUR][1000 genomes]
rs6895961	1.00[CEU][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs6898323	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73090747	0.88[EUR][1000 genomes]
rs7701546	0.91[GIH][hapmap]
rs7709521	0.85[AFR][1000 genomes]
rs7720810	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7721545	1.00[CEU][hapmap]
rs7725727	0.88[EUR][1000 genomes]
rs7728625	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7730865	0.88[EUR][1000 genomes]
rs7735821	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9292865	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs936071	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020800-43037400	Weak transcription	HSMM	muscle
2	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
3	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43029400-43037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:43034400-43037400	Enhancers	Dnd41	blood
6	chr5:43034600-43037600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:43034600-43037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:43035000-43037400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:43035000-43038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:43035200-43037600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:43035200-43039600	Weak transcription	Hela-S3	cervix
12	chr5:43035400-43037400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:43035400-43038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:43035600-43039200	Weak transcription	HepG2	liver
15	chr5:43035800-43039400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:43036200-43037400	Enhancers	Fetal Thymus	thymus
17	chr5:43036400-43037400	Enhancers	GM12878-XiMat	blood
18	chr5:43036600-43037600	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:43036600-43037800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:43036800-43037400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr5:43036800-43037600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:43036800-43037600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:43036800-43037800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
24	chr5:43036800-43037800	Flanking Active TSS	HUVEC	blood vessel
25	chr5:43036800-43038200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:43036800-43039000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr5:43036800-43039600	Active TSS	Placenta	Placenta
28	chr5:43036800-43043800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:43037000-43037400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:43037000-43037400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:43037000-43037400	Active TSS	Colonic Mucosa	Colon
32	chr5:43037000-43037400	Active TSS	Psoas Muscle	Psoas
33	chr5:43037000-43037400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr5:43037000-43037600	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr5:43037000-43037600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr5:43037000-43037800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:43037000-43037800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr5:43037000-43037800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:43037000-43037800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:43037000-43037800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:43037000-43037800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr5:43037000-43037800	ZNF genes & repeats	Right Atrium	heart
43	chr5:43037000-43037800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr5:43037000-43038000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr5:43037000-43038000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:43037000-43038000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr5:43037000-43038000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:43037000-43038000	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr5:43037000-43038000	Flanking Active TSS	NH-A	brain
50	chr5:43037000-43038200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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