Variant report

Variant	rs587695736
Chromosome Location	chr19:42007140-42007141
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	USF1	chr19:42007073-42007228	HepG2	liver:	n/a	chr19:42007169-42007180
2	REST	chr19:42006767-42007956	A549	lung:	n/a	n/a
3	ZNF384	chr19:42007034-42007470	K562	blood:	n/a	n/a
4	MAX	chr19:42006895-42007802	HCT-116	colon:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
5	FOXA2	chr19:42007059-42007730	A549	lung:	n/a	n/a
6	USF2	chr19:42007054-42007171	HepG2	liver:	n/a	n/a
7	MAX	chr19:42006797-42007703	K562	blood:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
8	USF2	chr19:42007029-42007307	K562	blood:	n/a	n/a
9	POLR2A	chr19:42006250-42007898	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr19:42007006-42007693	K562	blood:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
11	USF1	chr19:42007004-42007781	A549	lung:	n/a	chr19:42007169-42007180
12	TCF12	chr19:42006678-42008112	A549	lung:	n/a	n/a
13	E2F6	chr19:42007078-42007279	K562	blood:	n/a	n/a
14	E2F6	chr19:42006624-42008253	A549	lung:	n/a	n/a
15	USF1	chr19:42006855-42007785	A549	lung:	n/a	chr19:42007169-42007180
16	E2F6	chr19:42006864-42008112	A549	lung:	n/a	n/a
17	USF1	chr19:42006854-42007364	K562	blood:	n/a	chr19:42007169-42007180
18	MYC	chr19:42006975-42007652	K562	blood:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
19	KAP1	chr19:42006747-42007732	U2OS	brain:	n/a	n/a
20	SP1	chr19:42006607-42007906	A549	lung:	n/a	n/a
21	USF1	chr19:42006776-42007754	A549	lung:	n/a	chr19:42007169-42007180
22	NFYB	chr19:42007041-42007392	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:42006900-42007715	SK-N-MC	brain:	n/a	n/a
24	MAX	chr19:42006905-42007790	MCF-7	breast:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
25	USF1	chr19:42006807-42007769	HCT-116	colon:	n/a	chr19:42007169-42007180
26	USF1	chr19:42006836-42007365	K562	blood:	n/a	chr19:42007169-42007180
27	ZNF384	chr19:42007020-42007416	GM12878	blood:	n/a	n/a
28	USF1	chr19:42006892-42007259	SK-N-SH	brain:	n/a	chr19:42007169-42007180
29	YY1	chr19:42007091-42007287	GM12878	blood:	n/a	n/a
30	FOSL2	chr19:42006817-42008108	A549	lung:	n/a	n/a
31	USF1	chr19:42007019-42007281	HepG2	liver:	n/a	chr19:42007169-42007180
32	MAX	chr19:42006766-42007840	A549	lung:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
33	USF1	chr19:42007012-42007370	ECC-1	luminal epithelium:	n/a	chr19:42007169-42007180
34	USF1	chr19:42006876-42007718	HCT-116	colon:	n/a	chr19:42007169-42007180
35	USF1	chr19:42006763-42007350	A549	lung:	n/a	chr19:42007169-42007180
36	MAX	chr19:42006945-42007756	A549	lung:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
37	USF1	chr19:42006811-42007727	A549	lung:	n/a	chr19:42007169-42007180
38	POLR2A	chr19:42006842-42007813	HUVEC	blood vessel:	n/a	n/a
39	USF1	chr19:42006970-42007343	SK-N-SH_RA	brain:	n/a	chr19:42007169-42007180
40	NFIC	chr19:42007115-42007832	SK-N-SH	brain:	n/a	n/a
41	USF1	chr19:42007007-42007249	SK-N-SH_RA	brain:	n/a	chr19:42007169-42007180
42	POLR2A	chr19:42006309-42007821	HUVEC	blood vessel:	n/a	n/a
43	SETDB1	chr19:42006761-42007827	U2OS	brain:	n/a	n/a
44	USF1	chr19:42006958-42007669	A549	lung:	n/a	chr19:42007169-42007180
45	HA-E2F1	chr19:42006937-42007975	MCF-7	breast:	n/a	n/a
46	NFYB	chr19:42007028-42007370	K562	blood:	n/a	n/a
47	ATF3	chr19:42007044-42007229	K562	blood:	n/a	n/a
48	MAX	chr19:42006587-42008026	A549	lung:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
49	MAX	chr19:42007045-42007824	HCT-116	colon:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
50	USF1	chr19:42007068-42007362	ECC-1	luminal epithelium:	n/a	chr19:42007169-42007180

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	esv17598	chr19:41982121-42007150	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42004400-42007200	Active TSS	Adipose Nuclei	Adipose
2	chr19:42004400-42007200	Active TSS	Right Atrium	heart
3	chr19:42005600-42007200	Flanking Active TSS	HUVEC	blood vessel
4	chr19:42006600-42007400	Weak transcription	Esophagus	oesophagus
5	chr19:42006600-42008200	Flanking Active TSS	A549	lung
6	chr19:42006800-42007200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:42006800-42007200	Flanking Active TSS	K562	blood
8	chr19:42006800-42007400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr19:42006800-42007800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:42006800-42007800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:42006800-42008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:42007000-42007200	Flanking Active TSS	HepG2	liver
13	chr19:42007000-42007600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:42007000-42007800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:42007000-42007800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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