Variant report

Variant	rs28706490
Chromosome Location	chr19:18526536-18526537
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	ZNF143	chr19:18525488-18526754	K562	blood:	n/a	n/a
2	ZNF263	chr19:18526059-18526727	HEK293-T-REx	kidney:	n/a	chr19:18526434-18526443 chr19:18526383-18526404 chr19:18526123-18526132 chr19:18526407-18526428
3	IRF1	chr19:18525852-18526741	K562	blood:	n/a	n/a
4	STAT5A	chr19:18526141-18526649	GM12878	blood:	n/a	n/a
5	TEAD4	chr19:18525781-18526649	K562	blood:	n/a	n/a
6	POLR2A	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:18526154-18526741	ProgFib	skin:	n/a	n/a
8	POLR2A	chr19:18525342-18526889	U87	brain:	n/a	n/a
9	YY1	chr19:18526151-18526606	K562	blood:	n/a	chr19:18526270-18526279
10	ZMIZ1	chr19:18526012-18526621	K562	blood:	n/a	n/a
11	POLR2A	chr19:18525634-18526633	HL-60	blood:	n/a	n/a
12	POLR2A	chr19:18525808-18526691	K562	blood:	n/a	n/a
13	HEY1	chr19:18525294-18526716	K562	blood:	n/a	n/a
14	POLR2A	chr19:18525339-18526778	K562	blood:	n/a	n/a
15	EP300	chr19:18525361-18526758	K562	blood:	n/a	n/a
16	TBL1XR1	chr19:18525884-18526729	K562	blood:	n/a	n/a
17	MAX	chr19:18525204-18526862	K562	blood:	n/a	chr19:18525511-18525520 chr19:18525876-18525886 chr19:18526774-18526784
18	TBP	chr19:18526064-18526624	K562	blood:	n/a	n/a
19	EGR1	chr19:18525776-18526600	K562	blood:	n/a	chr19:18526045-18526054 chr19:18526269-18526280 chr19:18526352-18526365 chr19:18526040-18526050 chr19:18526038-18526052 chr19:18526036-18526050 chr19:18526040-18526051 chr19:18526034-18526056 chr19:18526039-18526052 chr19:18526040-18526051 chr19:18526040-18526050
20	TAF1	chr19:18526100-18526592	K562	blood:	n/a	n/a
21	RCOR1	chr19:18525855-18526602	K562	blood:	n/a	n/a
22	GTF2F1	chr19:18526239-18526609	K562	blood:	n/a	n/a
23	MAX	chr19:18525745-18526558	K562	blood:	n/a	chr19:18525876-18525886
24	POLR2A	chr19:18525274-18526915	HUVEC	blood vessel:	n/a	n/a
25	CBX3	chr19:18524993-18526657	K562	blood:	n/a	n/a
26	HCFC1	chr19:18525933-18526539	K562	blood:	n/a	n/a
27	SPI1	chr19:18526220-18526562	K562	blood:	n/a	chr19:18526263-18526270
28	MYC	chr19:18525720-18526680	NB4	blood:	n/a	chr19:18525876-18525886
29	POLR2A	chr19:18525346-18530410	K562	blood:	n/a	n/a
30	ELF1	chr19:18525290-18526671	K562	blood:	n/a	chr19:18526270-18526279
31	MYC	chr19:18525314-18526688	K562	blood:	n/a	chr19:18525511-18525520 chr19:18525876-18525886
32	POLR2A	chr19:18525795-18526912	U87	brain:	n/a	n/a
33	POLR2A	chr19:18526126-18526801	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr19:18526006-18526786	HCT-116	colon:	n/a	n/a
35	E2F6	chr19:18525383-18526658	K562	blood:	n/a	chr19:18526075-18526085
36	MYC	chr19:18525158-18526673	K562	blood:	n/a	chr19:18525511-18525520 chr19:18525876-18525886
37	IRF1	chr19:18525967-18526705	K562	blood:	n/a	n/a
38	EGR1	chr19:18525784-18526760	HCT-116	colon:	n/a	chr19:18526045-18526054 chr19:18526269-18526280 chr19:18526352-18526365 chr19:18526040-18526050 chr19:18526038-18526052 chr19:18526036-18526050 chr19:18526040-18526051 chr19:18526034-18526056 chr19:18526039-18526052 chr19:18526040-18526051 chr19:18526040-18526050
39	EP300	chr19:18526290-18526542	GM12878	blood:	n/a	n/a
40	SPI1	chr19:18525830-18526755	HL-60	blood:	n/a	chr19:18526124-18526137 chr19:18526263-18526270
41	SPI1	chr19:18526222-18526564	K562	blood:	n/a	chr19:18526263-18526270
42	ZBTB7A	chr19:18525585-18526839	K562	blood:	n/a	chr19:18526073-18526082 chr19:18526105-18526113
43	MAX	chr19:18525531-18526668	NB4	blood:	n/a	chr19:18525876-18525886
44	POLR2A	chr19:18526152-18526613	GM12891	blood:	n/a	n/a
45	ZBTB7A	chr19:18525714-18526895	K562	blood:	n/a	chr19:18526073-18526082 chr19:18526105-18526113
46	POLR2A	chr19:18525403-18529035	HCT-116	colon:	n/a	n/a
47	UBTF	chr19:18526040-18526644	K562	blood:	n/a	n/a
48	POLR2A	chr19:18526078-18526596	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr19:18525194-18531443	K562	blood:	n/a	n/a
50	POLR2A	chr19:18526465-18526591	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
3	chr19:18515749..18518459-chr19:18525942..18528660,2	K562	blood:
4	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
5	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
6	chr19:18496287..18498156-chr19:18525962..18527694,2	MCF-7	breast:
7	chr19:18333200..18334741-chr19:18526229..18528340,2	K562	blood:
8	chr19:18521178..18523940-chr19:18526171..18529152,3	MCF-7	breast:
9	chr19:18320883..18322593-chr19:18524287..18527226,2	K562	blood:
10	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
11	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
12	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
13	chr19:18424650..18427071-chr19:18525382..18527314,2	K562	blood:
14	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
15	chr19:18458615..18460578-chr19:18524334..18527055,2	MCF-7	breast:
16	chr19:18338900..18340811-chr19:18525374..18527248,2	K562	blood:
17	chr19:18474455..18476591-chr19:18526226..18528576,3	K562	blood:
18	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
19	chr19:18416874..18418645-chr19:18525016..18527028,2	K562	blood:
20	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
21	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
22	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000175489	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000105650	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10409185	1.00[EUR][1000 genomes]
rs10410957	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs10418124	1.00[EUR][1000 genomes]
rs10451485	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11574806	1.00[TSI][hapmap]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs28489988	1.00[EUR][1000 genomes]
rs28537851	1.00[EUR][1000 genomes]
rs28819668	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs73523060	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73525104	1.00[EUR][1000 genomes]
rs73525115	1.00[EUR][1000 genomes]
rs73527416	1.00[EUR][1000 genomes]
rs73529387	1.00[EUR][1000 genomes]
rs8101797	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103429	1.00[EUR][1000 genomes]
rs8105314	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8107049	1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9917071	1.00[EUR][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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18521600-18527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18524800-18527200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:18524800-18527400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr19:18524800-18527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18524800-18527800	Flanking Active TSS	K562	blood
6	chr19:18524800-18528000	Enhancers	Primary hematopoietic stem cells	blood
7	chr19:18525000-18527200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr19:18525000-18527200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:18525000-18527400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:18525000-18527400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr19:18525000-18527400	Enhancers	Stomach Mucosa	stomach
12	chr19:18525000-18527600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr19:18525000-18527800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:18525000-18528000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:18525000-18528000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:18525000-18529600	Enhancers	Liver	Liver
17	chr19:18525000-18529600	Enhancers	Spleen	Spleen
18	chr19:18525200-18526800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:18525200-18526800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr19:18525200-18526800	Flanking Active TSS	Osteobl	bone
21	chr19:18525200-18527200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr19:18525200-18527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:18525200-18527400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:18525200-18527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:18525200-18527400	Enhancers	HMEC	breast
26	chr19:18525200-18527400	Enhancers	NH-A	brain
27	chr19:18525200-18528000	Enhancers	Brain Angular Gyrus	brain
28	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:18525400-18526600	Flanking Active TSS	HSMM	muscle
30	chr19:18525400-18526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:18525400-18526800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:18525400-18526800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:18525400-18526800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:18525400-18527000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:18525400-18527400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr19:18525400-18527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:18525400-18527400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:18525400-18527800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:18525400-18528000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr19:18525400-18528000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:18525400-18529600	Enhancers	Lung	lung
42	chr19:18525600-18526600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr19:18525600-18526600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr19:18525600-18526600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr19:18525600-18526600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr19:18525600-18526600	Weak transcription	Small Intestine	intestine
47	chr19:18525600-18526800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:18525600-18526800	Flanking Active TSS	Fetal Stomach	stomach
49	chr19:18525600-18526800	Flanking Active TSS	Dnd41	blood
50	chr19:18525600-18527200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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