Variant report

Variant	rs73127597
Chromosome Location	chr5:76011999-76012000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:76011769-76012570	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:76011795-76012007	MCF-7	breast:	n/a	n/a
3	PBX3	chr5:76011351-76012186	SK-N-SH	brain:	n/a	chr5:76011677-76011697
4	TBP	chr5:76011714-76012395	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr5:76011198-76012110	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:76011809-76012996	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr5:76011755-76012140	GM12892	blood:	n/a	n/a
8	POLR2A	chr5:76011671-76013008	H1-hESC	embryonic stem cell:	n/a	n/a
9	HCFC1	chr5:76011698-76012834	K562	blood:	n/a	n/a
10	TAF1	chr5:76011391-76013083	SK-N-SH	brain:	n/a	n/a
11	CREB1	chr5:76011484-76012203	A549	lung:	n/a	n/a
12	SMC3	chr5:76011709-76012144	K562	blood:	n/a	n/a
13	MAX	chr5:76011027-76012490	A549	lung:	n/a	n/a
14	POLR2A	chr5:76011041-76015191	HUVEC	blood vessel:	n/a	n/a
15	RAD21	chr5:76011744-76012179	HepG2	liver:	n/a	n/a
16	MXI1	chr5:76011261-76012548	HepG2	liver:	n/a	n/a
17	TBL1XR1	chr5:76011653-76012360	GM12878	blood:	n/a	n/a
18	JUN	chr5:76011849-76012150	K562	blood:	n/a	n/a
19	MYC	chr5:76011742-76013297	K562	blood:	n/a	n/a
20	CREB1	chr5:76011651-76012434	HepG2	liver:	n/a	n/a
21	POLR2A	chr5:76010271-76012979	SK-N-MC	brain:	n/a	n/a
22	CTCF	chr5:76011980-76012130	NB4	blood:	n/a	n/a
23	SIN3AK20	chr5:76011382-76012952	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr5:76011755-76012000	HepG2	liver:	n/a	n/a
25	YY1	chr5:76011677-76012552	K562	blood:	n/a	chr5:76011742-76011756
26	RAD21	chr5:76011723-76012142	H1-hESC	embryonic stem cell:	n/a	chr5:76011740-76011753
27	CCNT2	chr5:76011492-76012388	K562	blood:	n/a	n/a
28	CTBP2	chr5:76010586-76012942	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr5:76011759-76012267	MCF-7	breast:	n/a	n/a
30	POLR2A	chr5:76011743-76012525	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr5:76011837-76012956	GM12878	blood:	n/a	n/a
32	TAF1	chr5:76011785-76012102	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr5:76011755-76012386	A549	lung:	n/a	n/a
34	YY1	chr5:76011753-76012268	GM12891	blood:	n/a	n/a
35	CTCF	chr5:76011767-76012005	GM10248	blood:	n/a	n/a
36	CTCF	chr5:76011785-76012018	K562	blood:	n/a	n/a
37	CTCF	chr5:76011761-76012156	LNCaP	prostate:	n/a	n/a
38	CTCF	chr5:76011747-76012046	GM19240	blood:	n/a	n/a
39	CTCF	chr5:76011779-76012002	Medullo	brain:	n/a	n/a
40	CTCF	chr5:76011775-76012027	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr5:76011787-76012087	K562	blood:	n/a	n/a
42	POLR2A	chr5:76011572-76012333	K562	blood:	n/a	n/a
43	MAX	chr5:76011110-76012428	GM12878	blood:	n/a	n/a
44	HMGN3	chr5:76011096-76012362	K562	blood:	n/a	n/a
45	CTCF	chr5:76011674-76012092	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr5:76011787-76012176	MCF-7	breast:	n/a	n/a
47	HEY1	chr5:76011817-76012086	HepG2	liver:	n/a	n/a
48	MYC	chr5:76011985-76012073	MCF10A-Er-Src	breast:	n/a	n/a
49	ZNF143	chr5:76011211-76012092	GM12878	blood:	n/a	n/a
50	JUND	chr5:76011493-76012230	K562	blood:	n/a	chr5:76011669-76011679 chr5:76011669-76011679 chr5:76011666-76011677

No data

Variant related genes	Relation type
F2R	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17681908	0.90[AMR][1000 genomes]
rs2227746	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227748	0.94[AFR][1000 genomes]
rs2227749	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61370375	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61557265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127565	1.00[AMR][1000 genomes]
rs73127576	1.00[AMR][1000 genomes]
rs73127579	1.00[AMR][1000 genomes]
rs73127582	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127587	0.91[AMR][1000 genomes]
rs73127593	0.89[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76010400-76012400	Flanking Bivalent TSS/Enh	Dnd41	blood
2	chr5:76010400-76013000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:76010400-76015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:76010600-76012600	Bivalent/Poised TSS	HepG2	liver
5	chr5:76010600-76012800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr5:76010600-76013000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:76010600-76013200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr5:76010600-76014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:76010800-76012000	Active TSS	Right Atrium	heart
10	chr5:76010800-76012200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr5:76010800-76012200	Active TSS	Brain Anterior Caudate	brain
12	chr5:76010800-76012200	Active TSS	Left Ventricle	heart
13	chr5:76010800-76012800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr5:76010800-76012800	Flanking Active TSS	Liver	Liver
15	chr5:76010800-76013000	Active TSS	Brain Substantia Nigra	brain
16	chr5:76010800-76013200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr5:76010800-76013600	Active TSS	NHDF-Ad	bronchial
18	chr5:76011000-76012000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:76011000-76012000	Active TSS	Psoas Muscle	Psoas
20	chr5:76011000-76012200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:76011000-76012200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr5:76011000-76012200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr5:76011000-76012200	Active TSS	Right Ventricle	heart
24	chr5:76011000-76012400	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr5:76011000-76012400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:76011000-76012400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
27	chr5:76011000-76012800	Bivalent/Poised TSS	Esophagus	oesophagus
28	chr5:76011000-76013000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:76011000-76013000	Active TSS	Ovary	ovary
30	chr5:76011000-76013400	Active TSS	A549	lung
31	chr5:76011000-76013600	Active TSS	NHLF	lung
32	chr5:76011200-76012000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:76011200-76012000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:76011200-76012000	Weak transcription	Spleen	Spleen
35	chr5:76011200-76012200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr5:76011200-76012200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:76011200-76012200	Active TSS	Gastric	stomach
38	chr5:76011200-76012400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr5:76011200-76012600	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr5:76011200-76013000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:76011200-76013000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:76011200-76013000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:76011200-76013000	Active TSS	Aorta	Aorta
44	chr5:76011200-76013200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr5:76011200-76013400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:76011200-76013400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:76011200-76013400	Active TSS	K562	blood
48	chr5:76011200-76013600	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:76011200-76014400	Active TSS	Fetal Kidney	kidney
50	chr5:76011400-76012200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links