Variant report

Variant	rs587759290
Chromosome Location	chr19:42007686-42007687
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	MAX	chr19:42007301-42007735	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr19:42007309-42007755	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr19:42007474-42007744	A549	lung:	n/a	n/a
4	REST	chr19:42006767-42007956	A549	lung:	n/a	n/a
5	JUND	chr19:42007301-42007733	Hela-S3	cervix:	n/a	chr19:42007464-42007475
6	JUND	chr19:42007199-42007809	HCT-116	colon:	n/a	chr19:42007464-42007475
7	FOS	chr19:42007233-42007722	HUVEC	blood vessel:	n/a	chr19:42007464-42007475
8	FOSL1	chr19:42007197-42007840	HCT-116	colon:	n/a	n/a
9	JUND	chr19:42007280-42007706	K562	blood:	n/a	chr19:42007464-42007475
10	SP1	chr19:42007145-42007823	HCT-116	colon:	n/a	n/a
11	POLR2A	chr19:42007326-42007863	PFSK-1	brain:	n/a	n/a
12	MAX	chr19:42006895-42007802	HCT-116	colon:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
13	FOXA2	chr19:42007059-42007730	A549	lung:	n/a	n/a
14	FOXA2	chr19:42007320-42008140	A549	lung:	n/a	n/a
15	MAX	chr19:42006797-42007703	K562	blood:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
16	FOSL1	chr19:42007174-42007932	HCT-116	colon:	n/a	n/a
17	RCOR1	chr19:42007279-42007698	K562	blood:	n/a	n/a
18	MAX	chr19:42007190-42007770	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr19:42006250-42007898	HUVEC	blood vessel:	n/a	n/a
20	MAX	chr19:42007006-42007693	K562	blood:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
21	FOSL2	chr19:42007231-42007723	SK-N-SH	brain:	n/a	n/a
22	USF1	chr19:42007004-42007781	A549	lung:	n/a	chr19:42007169-42007180
23	TCF12	chr19:42006678-42008112	A549	lung:	n/a	n/a
24	GABPA	chr19:42007230-42007871	A549	lung:	n/a	n/a
25	CBX3	chr19:42007176-42007860	HCT-116	colon:	n/a	n/a
26	TCF7L2	chr19:42007326-42007697	Hela-S3	cervix:	n/a	n/a
27	E2F6	chr19:42006624-42008253	A549	lung:	n/a	n/a
28	USF1	chr19:42006855-42007785	A549	lung:	n/a	chr19:42007169-42007180
29	E2F6	chr19:42006864-42008112	A549	lung:	n/a	n/a
30	FOSL2	chr19:42007295-42007758	HepG2	liver:	n/a	n/a
31	TBL1XR1	chr19:42007379-42007705	K562	blood:	n/a	n/a
32	JUND	chr19:42007251-42007800	HCT-116	colon:	n/a	chr19:42007464-42007475
33	KAP1	chr19:42006747-42007732	U2OS	brain:	n/a	n/a
34	SP1	chr19:42006607-42007906	A549	lung:	n/a	n/a
35	USF1	chr19:42006776-42007754	A549	lung:	n/a	chr19:42007169-42007180
36	FOSL2	chr19:42007266-42007720	MCF-7	breast:	n/a	n/a
37	NFIC	chr19:42007332-42007826	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr19:42006900-42007715	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr19:42007497-42007696	A549	lung:	n/a	n/a
40	MAX	chr19:42006905-42007790	MCF-7	breast:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
41	YY1	chr19:42007343-42007778	A549	lung:	n/a	n/a
42	USF1	chr19:42006807-42007769	HCT-116	colon:	n/a	chr19:42007169-42007180
43	JUN	chr19:42007356-42007789	K562	blood:	n/a	n/a
44	POLR2A	chr19:42007375-42007925	HUVEC	blood vessel:	n/a	n/a
45	FOSL2	chr19:42006817-42008108	A549	lung:	n/a	n/a
46	MAX	chr19:42006766-42007840	A549	lung:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
47	POLR2A	chr19:42007286-42007704	HCT-116	colon:	n/a	n/a
48	USF1	chr19:42006876-42007718	HCT-116	colon:	n/a	chr19:42007169-42007180
49	FOSL2	chr19:42007226-42007764	HepG2	liver:	n/a	n/a
50	MAX	chr19:42006945-42007756	A549	lung:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180

Variant related genes	Relation type
ENSG00000267107	TF binding region
ENSG00000268034	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061157	chr19:41962486-42007875	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv510767	chr19:41962486-42049165	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1066225	chr19:41968797-42007875	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3376048	chr19:41969544-42022873	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3497342	chr19:41969692-42023108	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3497343	chr19:41969692-42023108	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3319145	chr19:41971761-42025822	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3319144	chr19:41971770-42026041	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3318546	chr19:41972494-42008328	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3318547	chr19:41972494-42008328	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1062563	chr19:41976648-42007875	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1060959	chr19:41976648-42023361	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1057764	chr19:41976648-42023588	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv442462	chr19:41976660-42007871	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv2760512	chr19:41976660-42023600	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1057852	chr19:41983993-42007875	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv521657	chr19:41984128-42020112	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv579601	chr19:42006714-42031592	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42006600-42008200	Flanking Active TSS	A549	lung
2	chr19:42006800-42007800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:42006800-42007800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:42006800-42008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:42007000-42007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:42007000-42007800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr19:42007200-42007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:42007200-42007800	Enhancers	K562	blood
9	chr19:42007200-42008000	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr19:42007400-42007800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:42007400-42007800	Enhancers	Esophagus	oesophagus
12	chr19:42007400-42007800	Enhancers	Right Atrium	heart
13	chr19:42007400-42007800	Flanking Active TSS	GM12878-XiMat	blood
14	chr19:42007600-42007800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr19:42007600-42007800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr19:42007600-42007800	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr19:42007600-42007800	Flanking Active TSS	HUVEC	blood vessel
18	chr19:42007600-42007800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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