Variant report

Variant	rs11872031
Chromosome Location	chr17:18150814-18150815
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	POLR2A	chr17:18150261-18150975	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr17:18150107-18150974	ECC-1	luminal epithelium:	n/a	chr17:18150829-18150839
3	MAX	chr17:18150152-18150900	K562	blood:	n/a	chr17:18150829-18150839
4	MAX	chr17:18150413-18150829	K562	blood:	n/a	n/a
5	ATF2	chr17:18150479-18150820	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr17:18150214-18150821	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr17:18150410-18151462	ECC-1	luminal epithelium:	n/a	n/a
8	HMGN3	chr17:18149851-18151113	K562	blood:	n/a	n/a
9	POLR2A	chr17:18150409-18150878	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr17:18150459-18150857	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:18148185-18151299	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:18150540-18152870	A549	lung:	n/a	n/a
13	TCF12	chr17:18150256-18150868	ECC-1	luminal epithelium:	n/a	n/a
14	MAFK	chr17:18150594-18150835	K562	blood:	n/a	n/a
15	TCF7L2	chr17:18150215-18150901	HCT-116	colon:	n/a	n/a
16	POLR2A	chr17:18150601-18152358	HepG2	liver:	n/a	n/a
17	ELF1	chr17:18150548-18150909	K562	blood:	n/a	n/a
18	RCOR1	chr17:18150201-18150843	K562	blood:	n/a	n/a
19	IRF1	chr17:18150327-18150917	K562	blood:	n/a	chr17:18150830-18150844 chr17:18150779-18150793
20	POLR2A	chr17:18150499-18151132	H1-neurons	neurons:	n/a	n/a
21	ELF1	chr17:18150445-18150854	K562	blood:	n/a	n/a
22	MAX	chr17:18150468-18150837	K562	blood:	n/a	n/a
23	POLR2A	chr17:18148876-18151111	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAZ	chr17:18150111-18151008	K562	blood:	n/a	chr17:18150829-18150839
25	POLR2A	chr17:18150444-18150821	H1-hESC	embryonic stem cell:	n/a	n/a
26	USF2	chr17:18150196-18151335	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr17:18150496-18151054	H1-hESC	embryonic stem cell:	n/a	chr17:18150929-18150948
28	CTCF	chr17:18150760-18150910	GM12870	blood:	n/a	n/a
29	POLR2A	chr17:18150441-18150897	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr17:18150476-18151038	K562	blood:	n/a	n/a
31	POLR2A	chr17:18150499-18151075	HUVEC	blood vessel:	n/a	n/a
32	SIN3A	chr17:18149971-18151018	H1-hESC	embryonic stem cell:	n/a	chr17:18150182-18150191
33	TAF1	chr17:18150443-18150880	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr17:18150130-18151062	ECC-1	luminal epithelium:	n/a	n/a
35	TBP	chr17:18150549-18150886	K562	blood:	n/a	n/a
36	POLR2A	chr17:18150812-18150819	HepG2	liver:	n/a	n/a
37	JUND	chr17:18150224-18151033	H1-hESC	embryonic stem cell:	n/a	chr17:18150779-18150788 chr17:18150383-18150392
38	MXI1	chr17:18150146-18150835	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr17:18150730-18150878	MCF10A-Er-Src	breast:	n/a	n/a
40	YY1	chr17:18150451-18150835	H1-hESC	embryonic stem cell:	n/a	n/a
41	SP1	chr17:18150432-18150958	H1-hESC	embryonic stem cell:	n/a	chr17:18150779-18150791 chr17:18150936-18150949 chr17:18150832-18150841 chr17:18150780-18150789 chr17:18150830-18150842 chr17:18150781-18150790 chr17:18150767-18150776 chr17:18150827-18150841 chr17:18150776-18150790 chr17:18150831-18150841 chr17:18150831-18150841 chr17:18150832-18150841 chr17:18150830-18150842 chr17:18150941-18150950 chr17:18150831-18150840 chr17:18150779-18150791
42	MAX	chr17:18150098-18151075	ECC-1	luminal epithelium:	n/a	chr17:18150829-18150839
43	MYC	chr17:18150429-18150895	K562	blood:	n/a	chr17:18150829-18150839
44	POLR2A	chr17:18150457-18150992	U87	brain:	n/a	n/a
45	HEY1	chr17:18150457-18150824	K562	blood:	n/a	n/a
46	MAX	chr17:18150201-18150949	H1-hESC	embryonic stem cell:	n/a	chr17:18150829-18150839
47	POLR2A	chr17:18150441-18150900	K562	blood:	n/a	n/a
48	TBP	chr17:18150231-18150890	H1-hESC	embryonic stem cell:	n/a	n/a
49	GTF2F1	chr17:18150369-18150874	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr17:18148235-18151037	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
2	chr17:18149206..18150883-chr17:18160011..18162354,3	K562	blood:
3	chr17:18136077..18142771-chr17:18143654..18157956,22	MCF-7	breast:
4	chr17:18149918..18152295-chr17:18264840..18266898,2	MCF-7	breast:
5	chr17:18085097..18087844-chr17:18150702..18152403,2	MCF-7	breast:
6	chr17:18150015..18153243-chr17:18155020..18158436,5	K562	blood:
7	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
8	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
9	chr17:18150730..18153746-chr17:18217976..18219850,3	MCF-7	breast:
10	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:

Variant related genes	Relation type
FLII	TF binding region
ENSG00000176994	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000176974	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000131899	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11867895	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11868708	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11869582	0.87[EUR][1000 genomes]
rs11869952	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12449313	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12451555	0.83[EUR][1000 genomes]
rs12451698	0.85[EUR][1000 genomes]
rs12939851	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16961114	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16961133	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16961153	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1925	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1962949	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1962950	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071242	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273029	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2290502	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2290503	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290504	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290505	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2294913	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28364628	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35738574	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817992	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3829956	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3862147	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3889544	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4386179	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4450455	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4556848	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4925151	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57490980	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57697650	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59366579	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62072507	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62072509	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072511	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62072515	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072537	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072540	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62072541	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6502641	0.95[EUR][1000 genomes]
rs7211573	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7215678	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7405677	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7498	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8081042	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8081155	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8081343	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9913139	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer 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	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
6	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
7	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 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	chr17:18135200-18160000	Strong transcription	Fetal Brain Female	brain
2	chr17:18135400-18159600	Strong transcription	Primary T cells from cord blood	blood
3	chr17:18135400-18160200	Strong transcription	Thymus	Thymus
4	chr17:18135600-18159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:18135600-18159400	Strong transcription	Fetal Lung	lung
6	chr17:18135600-18160000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr17:18135800-18160400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:18136000-18159800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr17:18136000-18160000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:18136200-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:18136200-18160000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:18137000-18151000	Strong transcription	Brain Cingulate Gyrus	brain
13	chr17:18139400-18159800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:18139800-18160000	Strong transcription	Osteobl	bone
15	chr17:18139800-18160200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:18140000-18160000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr17:18143400-18160200	Strong transcription	NHLF	lung
18	chr17:18143600-18160000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:18143800-18160000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:18143800-18160200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:18144000-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:18144000-18160200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr17:18144200-18159200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:18144200-18160000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr17:18144400-18151800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr17:18144600-18159600	Strong transcription	Dnd41	blood
27	chr17:18144600-18159800	Strong transcription	Fetal Thymus	thymus
28	chr17:18144800-18159200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:18144800-18159800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:18145400-18159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr17:18145600-18159000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:18145800-18156000	Strong transcription	Primary B cells from cord blood	blood
33	chr17:18146200-18151800	Strong transcription	NH-A	brain
34	chr17:18146200-18152600	Strong transcription	NHDF-Ad	bronchial
35	chr17:18146200-18159600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:18146200-18159600	Strong transcription	HSMMtube	muscle
37	chr17:18146600-18160000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:18146800-18151800	Genic enhancers	Esophagus	oesophagus
39	chr17:18146800-18159400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:18147000-18152800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr17:18147000-18156600	Strong transcription	Liver	Liver
42	chr17:18147200-18159800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:18147400-18159600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:18148000-18159800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr17:18148200-18151600	Strong transcription	Colon Smooth Muscle	Colon
46	chr17:18148200-18159800	Strong transcription	HepG2	liver
47	chr17:18148200-18160200	Strong transcription	Aorta	Aorta
48	chr17:18148400-18151200	Strong transcription	GM12878-XiMat	blood
49	chr17:18148400-18152400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:18148400-18152800	Genic enhancers	Spleen	Spleen

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