Variant report

Variant	rs369109601
Chromosome Location	chr19:39261187-39261188
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	POLR2A	chr19:39261135-39262060	GM12878	blood:	n/a	n/a
2	CTCF	chr19:39261186-39261329	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:39260293-39262971	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr19:39260196-39261998	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr19:39260267-39262812	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr19:39260924-39262094	GM12878	blood:	n/a	n/a
7	SP1	chr19:39261177-39261953	GM12878	blood:	n/a	chr19:39261428-39261438

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39260117..39262134-chr19:39341376..39343069,2	K562	blood:

Variant related genes	Relation type
CAPN12	TF binding region
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1064688	chr19:39249059-39291526	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1061904	chr19:39249692-39302843	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv911671	chr19:39252238-39306425	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1063592	chr19:39257977-39287265	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv9719	chr19:39260214-39262452	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39246400-39270800	Weak transcription	K562	blood
2	chr19:39254200-39265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39260200-39261200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr19:39260200-39261200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:39260200-39261200	Enhancers	Placenta	Placenta
6	chr19:39260200-39261200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:39260400-39261200	Active TSS	Thymus	Thymus
8	chr19:39260400-39264200	Weak transcription	NHEK	skin
9	chr19:39260600-39261200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr19:39260800-39261200	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:39260800-39261200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:39260800-39264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:39260800-39264200	Weak transcription	A549	lung
14	chr19:39261000-39261200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr19:39261000-39261200	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr19:39261000-39261200	Enhancers	Primary B cells from cord blood	blood
17	chr19:39261000-39261200	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr19:39261000-39261200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:39261000-39261200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:39261000-39261200	Active TSS	Colonic Mucosa	Colon
21	chr19:39261000-39261200	Enhancers	Fetal Muscle Trunk	muscle
22	chr19:39261000-39261200	Active TSS	Fetal Thymus	thymus
23	chr19:39261000-39261800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:39261000-39261800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:39261000-39262000	Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr19:39261000-39262200	Active TSS	Fetal Intestine Large	intestine
27	chr19:39261000-39262200	Active TSS	Fetal Intestine Small	intestine
28	chr19:39261000-39262400	Weak transcription	Esophagus	oesophagus
29	chr19:39261000-39262600	Weak transcription	HMEC	breast
30	chr19:39261000-39264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:39261000-39264600	Weak transcription	Stomach Mucosa	stomach
32	chr19:39261000-39264600	Weak transcription	Spleen	Spleen
33	chr19:39261000-39265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:39261000-39269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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