Variant report

Variant	rs28660293
Chromosome Location	chr19:42006897-42006898
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	REST	chr19:42006767-42007956	A549	lung:	n/a	n/a
2	MAX	chr19:42006895-42007802	HCT-116	colon:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
3	MAX	chr19:42006797-42007703	K562	blood:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
4	POLR2A	chr19:42006250-42007898	HUVEC	blood vessel:	n/a	n/a
5	TCF12	chr19:42006678-42008112	A549	lung:	n/a	n/a
6	E2F6	chr19:42006624-42008253	A549	lung:	n/a	n/a
7	USF1	chr19:42006855-42007785	A549	lung:	n/a	chr19:42007169-42007180
8	E2F6	chr19:42006864-42008112	A549	lung:	n/a	n/a
9	USF1	chr19:42006854-42007364	K562	blood:	n/a	chr19:42007169-42007180
10	KAP1	chr19:42006747-42007732	U2OS	brain:	n/a	n/a
11	SP1	chr19:42006607-42007906	A549	lung:	n/a	n/a
12	USF1	chr19:42006776-42007754	A549	lung:	n/a	chr19:42007169-42007180
13	USF1	chr19:42006807-42007769	HCT-116	colon:	n/a	chr19:42007169-42007180
14	USF1	chr19:42006836-42007365	K562	blood:	n/a	chr19:42007169-42007180
15	USF1	chr19:42006892-42007259	SK-N-SH	brain:	n/a	chr19:42007169-42007180
16	FOSL2	chr19:42006817-42008108	A549	lung:	n/a	n/a
17	MAX	chr19:42006766-42007840	A549	lung:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180
18	USF1	chr19:42006876-42007718	HCT-116	colon:	n/a	chr19:42007169-42007180
19	USF1	chr19:42006763-42007350	A549	lung:	n/a	chr19:42007169-42007180
20	USF1	chr19:42006811-42007727	A549	lung:	n/a	chr19:42007169-42007180
21	POLR2A	chr19:42006842-42007813	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr19:42006309-42007821	HUVEC	blood vessel:	n/a	n/a
23	SETDB1	chr19:42006761-42007827	U2OS	brain:	n/a	n/a
24	MAX	chr19:42006587-42008026	A549	lung:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180

Variant related genes	Relation type
ENSG00000267107	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42004400-42007000	Active TSS	Psoas Muscle	Psoas
2	chr19:42004400-42007200	Active TSS	Adipose Nuclei	Adipose
3	chr19:42004400-42007200	Active TSS	Right Atrium	heart
4	chr19:42004600-42007000	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr19:42004800-42007000	Active TSS	Left Ventricle	heart
6	chr19:42005000-42007000	Active TSS	Fetal Muscle Leg	muscle
7	chr19:42005600-42007200	Flanking Active TSS	HUVEC	blood vessel
8	chr19:42006000-42007000	Active TSS	Fetal Kidney	kidney
9	chr19:42006000-42007000	Active TSS	Placenta	Placenta
10	chr19:42006600-42007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:42006600-42007400	Weak transcription	Esophagus	oesophagus
12	chr19:42006600-42008200	Flanking Active TSS	A549	lung
13	chr19:42006800-42007000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:42006800-42007000	Bivalent Enhancer	HepG2	liver
15	chr19:42006800-42007200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:42006800-42007200	Flanking Active TSS	K562	blood
17	chr19:42006800-42007400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:42006800-42007800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr19:42006800-42007800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:42006800-42008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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