Variant report

Variant	rs62072541
Chromosome Location	chr17:18226699-18226700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr17:18226357-18226701	A549	lung:	n/a	n/a
2	POLR2A	chr17:18226492-18227689	HepG2	liver:	n/a	n/a
3	CTCF	chr17:18226680-18226830	SAEC	small airway:	n/a	n/a
4	CTCF	chr17:18226439-18226736	K562	blood:	n/a	n/a
5	MYC	chr17:18226291-18226723	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr17:18226310-18226730	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr17:18226425-18226703	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr17:18226560-18226710	GM12874	blood:	n/a	n/a
9	POLR2A	chr17:18226473-18227705	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:18225804-18226881	GM12892	blood:	n/a	n/a
11	RAD21	chr17:18226339-18226783	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr17:18226560-18226710	GM06990	blood:	n/a	n/a
13	MYC	chr17:18226324-18226710	K562	blood:	n/a	n/a
14	CTCF	chr17:18226620-18226770	HCT-116	colon:	n/a	n/a
15	POLR2A	chr17:18225710-18229090	A549	lung:	n/a	n/a
16	RAD21	chr17:18226376-18226797	MCF-7	breast:	n/a	n/a
17	CTCF	chr17:18226342-18226806	MCF-7	breast:	n/a	n/a
18	RAD21	chr17:18226408-18226712	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr17:18226222-18226713	A549	lung:	n/a	n/a
20	POLR2A	chr17:18225638-18227595	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr17:18226464-18228976	K562	blood:	n/a	n/a
22	CTCF	chr17:18226415-18226726	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:18226405-18226935	GM12892	blood:	n/a	n/a
24	POLR2A	chr17:18226525-18226791	HepG2	liver:	n/a	n/a
25	POLR2A	chr17:18226661-18226810	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr17:18226099-18226778	A549	lung:	n/a	n/a
27	CTCF	chr17:18226560-18226710	HCM	heart:	n/a	n/a
28	RAD21	chr17:18226436-18226721	A549	lung:	n/a	n/a
29	POLR2A	chr17:18226250-18226840	PFSK-1	brain:	n/a	n/a
30	RAD21	chr17:18226356-18226716	A549	lung:	n/a	n/a
31	POLR2A	chr17:18226530-18229024	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr17:18226057-18226762	MCF-7	breast:	n/a	n/a
33	MXI1	chr17:18226115-18227123	IMR90	lung:	n/a	n/a
34	POLR2A	chr17:18226472-18226862	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr17:18226293-18226750	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18224827..18226997-chr17:18265358..18268214,2	MCF-7	breast:
2	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:
3	chr17:18158849..18161472-chr17:18226331..18228845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267350	TF binding region
ENSG00000177302	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000176974	Chromatin interaction
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11078415	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11867855	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11867895	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11868708	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11869515	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11869952	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871761	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11872031	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12449313	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450760	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12451555	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12451698	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12451807	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12939851	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16961114	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16961133	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071242	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2273029	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2290502	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2290503	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2290504	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2290505	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2294913	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28364628	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35738574	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817992	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3829956	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862147	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3889544	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4386179	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4450455	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4500798	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4556848	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4925151	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4925177	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4925178	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57490980	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57697650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59366579	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072507	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62072509	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62072511	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62072515	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62072537	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62072540	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072544	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62072545	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072546	0.80[EUR][1000 genomes]
rs6502641	0.85[EUR][1000 genomes]
rs7211573	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7215678	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7405677	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7498	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8081042	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8081155	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8081343	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9901707	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9909104	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9910090	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9913139	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][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	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
14	nsv521075	chr17:18220770-18227081	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 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	chr17:18219400-18227200	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr17:18219400-18266000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:18220200-18228000	Weak transcription	Fetal Kidney	kidney
4	chr17:18220400-18228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:18222400-18227200	Weak transcription	HUVEC	blood vessel
6	chr17:18222400-18266200	Weak transcription	Small Intestine	intestine
7	chr17:18222600-18227200	Weak transcription	Psoas Muscle	Psoas
8	chr17:18222600-18240800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:18222600-18243200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:18222800-18236800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:18223000-18228200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:18223400-18228400	Strong transcription	Primary B cells from cord blood	blood
13	chr17:18223400-18235400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:18223600-18240800	Strong transcription	Fetal Muscle Leg	muscle
15	chr17:18223600-18265400	Strong transcription	Fetal Stomach	stomach
16	chr17:18223800-18226800	Weak transcription	NHDF-Ad	bronchial
17	chr17:18223800-18227400	Weak transcription	NH-A	brain
18	chr17:18223800-18229200	Strong transcription	NHEK	skin
19	chr17:18223800-18236800	Strong transcription	Primary T cells from cord blood	blood
20	chr17:18223800-18236800	Strong transcription	Lung	lung
21	chr17:18223800-18240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:18223800-18253600	Strong transcription	Thymus	Thymus
23	chr17:18224000-18231000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr17:18224000-18236600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:18224000-18236600	Strong transcription	Fetal Intestine Large	intestine
26	chr17:18224000-18236800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:18224000-18240800	Strong transcription	Dnd41	blood
28	chr17:18224200-18227400	Weak transcription	Fetal Brain Male	brain
29	chr17:18224200-18227600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr17:18224200-18228000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:18224200-18228200	Strong transcription	Fetal Intestine Small	intestine
32	chr17:18224200-18229400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:18224200-18230200	Strong transcription	Brain Anterior Caudate	brain
34	chr17:18224200-18234600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:18224200-18235600	Strong transcription	Esophagus	oesophagus
36	chr17:18224200-18236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:18224200-18236400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr17:18224200-18236600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr17:18224200-18236600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:18224200-18240800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr17:18224200-18253000	Weak transcription	Fetal Heart	heart
42	chr17:18224400-18227800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:18224400-18249400	Weak transcription	K562	blood
44	chr17:18224600-18226800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr17:18224600-18227200	Weak transcription	Right Atrium	heart
46	chr17:18224600-18228000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:18224600-18236400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr17:18224800-18228400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr17:18224800-18229000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:18224800-18229600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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