Variant report

Variant	rs543139838
Chromosome Location	chr19:18526978-18526979
allele	C/T
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	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
2	MAX	chr19:18526925-18531451	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
3	CBX3	chr19:18526951-18529116	K562	blood:	n/a	n/a
4	POLR2A	chr19:18525346-18530410	K562	blood:	n/a	n/a
5	TCF12	chr19:18526977-18528944	A549	lung:	n/a	chr19:18528748-18528755
6	MAX	chr19:18526904-18531482	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
7	POLR2A	chr19:18525403-18529035	HCT-116	colon:	n/a	n/a
8	POLR2A	chr19:18525194-18531443	K562	blood:	n/a	n/a
9	NR2F2	chr19:18524998-18529278	K562	blood:	n/a	n/a
10	FOSL1	chr19:18526484-18527335	K562	blood:	n/a	chr19:18526694-18526706 chr19:18526699-18526707 chr19:18526695-18526705 chr19:18526695-18526704 chr19:18526696-18526705
11	TEAD4	chr19:18526973-18528639	K562	blood:	n/a	n/a
12	POLR2A	chr19:18525060-18530554	K562	blood:	n/a	n/a
13	MAX	chr19:18526932-18530775	HCT-116	colon:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
14	JUND	chr19:18525361-18528670	K562	blood:	n/a	chr19:18526694-18526706 chr19:18526699-18526707 chr19:18526695-18526705 chr19:18526694-18526705 chr19:18526695-18526704 chr19:18526255-18526266 chr19:18526696-18526705

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr11:133446628..133447627-chr19:18526800..18527688,2	HCT-116	colon:
3	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
4	chr19:18515749..18518459-chr19:18525942..18528660,2	K562	blood:
5	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
6	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
7	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
8	chr19:18496287..18498156-chr19:18525962..18527694,2	MCF-7	breast:
9	chr19:18333200..18334741-chr19:18526229..18528340,2	K562	blood:
10	chr19:18521178..18523940-chr19:18526171..18529152,3	MCF-7	breast:
11	chr19:18320883..18322593-chr19:18524287..18527226,2	K562	blood:
12	chr19:18265654..18267596-chr19:18526831..18528675,2	K562	blood:
13	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
14	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
15	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
16	chr19:18424650..18427071-chr19:18525382..18527314,2	K562	blood:
17	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
18	chr19:18458615..18460578-chr19:18524334..18527055,2	MCF-7	breast:
19	chr19:18338900..18340811-chr19:18525374..18527248,2	K562	blood:
20	chr19:18474455..18476591-chr19:18526226..18528576,3	K562	blood:
21	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
22	chr1:225117290..225118037-chr19:18526807..18527782,2	Hela-S3	cervix:
23	chr19:18526729..18529360-chr19:19028525..19030689,2	MCF-7	breast:
24	chr19:18416874..18418645-chr19:18525016..18527028,2	K562	blood:
25	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
26	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
27	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
28	chr19:18472311..18474156-chr19:18526952..18528977,3	K562	blood:
29	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000268650	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000185842	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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:118 , 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	chr19:18525200-18527200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr19:18525200-18527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:18525200-18527400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:18525200-18527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:18525200-18527400	Enhancers	HMEC	breast
23	chr19:18525200-18527400	Enhancers	NH-A	brain
24	chr19:18525200-18528000	Enhancers	Brain Angular Gyrus	brain
25	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:18525400-18527000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:18525400-18527400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr19:18525400-18527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:18525400-18527400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:18525400-18527800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:18525400-18528000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr19:18525400-18528000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:18525400-18529600	Enhancers	Lung	lung
34	chr19:18525600-18527200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:18525600-18527200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:18525600-18527400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:18525600-18527400	Enhancers	Primary B cells from cord blood	blood
38	chr19:18525600-18527400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr19:18525600-18527600	Enhancers	Esophagus	oesophagus
40	chr19:18525800-18527200	Enhancers	Hela-S3	cervix
41	chr19:18525800-18527400	Enhancers	A549	lung
42	chr19:18526000-18527000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:18526000-18527400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr19:18526000-18527600	Weak transcription	Gastric	stomach
45	chr19:18526200-18527400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:18526200-18528400	Flanking Active TSS	Fetal Lung	lung
47	chr19:18526400-18527000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:18526400-18527000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr19:18526400-18527200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:18526400-18527200	Enhancers	Brain Anterior Caudate	brain

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