Variant report

Variant	rs5744601
Chromosome Location	chr5:74847416-74847417
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	TCF12	chr5:74847113-74848001	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr5:74847182-74847879	SK-N-SH	brain:	n/a	n/a
3	JUND	chr5:74847168-74847833	SK-N-SH	brain:	n/a	n/a
4	MAX	chr5:74847313-74847596	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr5:74847323-74847748	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr5:74847187-74847921	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr5:74847323-74847749	SK-N-SH	brain:	n/a	n/a
8	EP300	chr5:74847227-74847791	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr5:74847228-74847831	SK-N-SH	brain:	n/a	n/a
10	MEF2A	chr5:74847352-74847709	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr5:74847247-74847894	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr5:74847229-74847678	SK-N-SH	brain:	n/a	n/a
13	EP300	chr5:74847381-74847647	SK-N-SH_RA	brain:	n/a	n/a
14	FOS	chr5:74847416-74847598	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr5:74847187-74847788	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr5:74847113-74847864	SK-N-SH	brain:	n/a	n/a
17	NFIC	chr5:74847290-74847802	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr5:74847164-74847876	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr5:74847178-74847855	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74845037..74847535-chr5:74848930..74850561,2	K562	blood:

Variant related genes	Relation type
POLK	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10038723	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10043621	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10044053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10060260	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10067641	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10075139	0.89[EUR][1000 genomes]
rs10434644	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10462517	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10474436	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1051795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942739	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12234032	0.86[EUR][1000 genomes]
rs13354407	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1427924	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17739580	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1863934	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1863935	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1995267	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253392	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs253393	0.95[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs253407	0.95[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs253408	0.83[ASN][1000 genomes]
rs253409	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs28609217	0.82[ASN][1000 genomes]
rs2878519	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2878520	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213801	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34340	0.90[ASN][1000 genomes]
rs34344	0.82[ASN][1000 genomes]
rs34345	0.82[ASN][1000 genomes]
rs3761742	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs3761743	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3846665	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs3846666	0.82[ASN][1000 genomes]
rs4045166	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4385188	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4440336	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4703670	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4703674	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704214	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4704224	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4704228	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57149337	0.86[ASN][1000 genomes]
rs57312935	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744533	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5744555	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744575	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5744595	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5744598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744621	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5744663	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5744703	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59506842	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61430233	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453134	0.82[ASN][1000 genomes]
rs67969809	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6861279	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6863398	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6872314	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6874781	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6886841	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6891949	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs698912	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73120833	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7356637	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs7445415	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs767676	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7700468	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7706857	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7709282	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717505	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7723531	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7737959	0.82[ASN][1000 genomes]
rs924452	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9293656	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9332464	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9885386	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
3	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
4	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:74826000-74862400	Weak transcription	Fetal Heart	heart
6	chr5:74831000-74848000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:74831000-74852600	Weak transcription	Aorta	Aorta
8	chr5:74831000-74859000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:74831000-74862400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:74831200-74848200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:74831200-74848600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
13	chr5:74831400-74848000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:74831400-74848000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:74831400-74848000	Weak transcription	Liver	Liver
16	chr5:74831400-74848200	Weak transcription	Fetal Intestine Large	intestine
17	chr5:74831400-74848400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:74831400-74848600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:74831400-74848600	Weak transcription	HSMMtube	muscle
20	chr5:74831800-74849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:74832400-74859000	Weak transcription	Brain Angular Gyrus	brain
22	chr5:74832600-74848400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:74832600-74848400	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:74832800-74847800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:74832800-74848000	Weak transcription	NH-A	brain
26	chr5:74832800-74848200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:74832800-74848200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:74832800-74848400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:74832800-74861400	Weak transcription	Gastric	stomach
30	chr5:74833000-74848200	Weak transcription	Adipose Nuclei	Adipose
31	chr5:74833000-74848200	Weak transcription	Placenta	Placenta
32	chr5:74833000-74848600	Weak transcription	K562	blood
33	chr5:74833000-74849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:74833000-74855400	Weak transcription	Esophagus	oesophagus
35	chr5:74833000-74860600	Weak transcription	A549	lung
36	chr5:74833000-74861600	Weak transcription	Spleen	Spleen
37	chr5:74833200-74862600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:74833400-74848400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:74833400-74850000	Weak transcription	Left Ventricle	heart
40	chr5:74833400-74850400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:74833400-74851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:74833400-74852600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:74833400-74861600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:74833400-74861600	Weak transcription	Pancreas	Pancrea
45	chr5:74833400-74862000	Weak transcription	Lung	lung
46	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
47	chr5:74834600-74862400	Weak transcription	Small Intestine	intestine
48	chr5:74835600-74848800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:74836800-74848200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:74836800-74848200	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links