Variant report

Variant	rs59981947
Chromosome Location	chr9:19129141-19129142
allele	-/GTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr9:19128465-19129169	GM12878	blood:	n/a	n/a
2	TAF1	chr9:19126880-19129183	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:19126680-19129198	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:19125907-19129263	GM12878	blood:	n/a	n/a
5	HEY1	chr9:19128904-19129190	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:19126753-19129342	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr9:19126800-19129158	GM12892	blood:	n/a	n/a
8	POLR2A	chr9:19129035-19129241	HepG2	liver:	n/a	n/a
9	MXI1	chr9:19127035-19129299	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:19124716..19129711-chr9:19378738..19382022,6	K562	blood:
2	chr9:19128630..19131218-chr9:19137487..19139302,2	K562	blood:
3	chr9:19126615..19131871-chr9:19228040..19232542,7	MCF-7	breast:
4	chr9:19128741..19130939-chr9:19361701..19364444,2	K562	blood:
5	chr9:19127609..19129220-chr9:19207374..19210036,2	MCF-7	breast:
6	chr9:19126391..19130012-chr9:19228888..19231863,3	MCF-7	breast:
7	chr9:19102335..19104420-chr9:19127605..19129443,2	MCF-7	breast:
8	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
9	chr9:19127602..19130118-chr9:19378923..19381565,2	MCF-7	breast:
10	chr9:19128414..19130954-chr9:19155486..19158249,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLIN2	TF binding region
ENSG00000137145	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000147874	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3808657	0.81[ASN][1000 genomes]
rs3824368	0.81[ASN][1000 genomes]

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	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2757322	chr9:19126476-19161145	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv2759676	chr9:19126476-19161145	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv892702	chr9:19126565-19298581	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19126000-19129200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:19126000-19129200	Active TSS	Colonic Mucosa	Colon
3	chr9:19126200-19129400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr9:19126400-19130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr9:19126400-19130400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:19126600-19129200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:19126600-19129200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:19126600-19129200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:19126600-19129400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr9:19126600-19129400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:19126600-19129400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:19127000-19129200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr9:19128000-19129200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr9:19128000-19129600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:19128000-19129800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:19128000-19129800	Weak transcription	K562	blood
17	chr9:19128000-19130600	Enhancers	Dnd41	blood
18	chr9:19128000-19132400	Enhancers	HepG2	liver
19	chr9:19128200-19129200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:19128200-19129200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
21	chr9:19128200-19129200	Enhancers	Fetal Brain Male	brain
22	chr9:19128400-19129200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr9:19128400-19129200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:19128400-19129200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr9:19128400-19129200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:19128400-19129200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:19128400-19129800	Weak transcription	HMEC	breast
28	chr9:19128400-19129800	Enhancers	NHEK	skin
29	chr9:19128600-19129200	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr9:19128600-19129600	Weak transcription	A549	lung
31	chr9:19128600-19129800	Enhancers	Hela-S3	cervix
32	chr9:19128600-19130000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr9:19128600-19130600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr9:19128800-19129200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:19128800-19129200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:19128800-19129200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr9:19128800-19129200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:19128800-19129200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:19128800-19129200	Active TSS	Brain Anterior Caudate	brain
40	chr9:19128800-19129200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr9:19128800-19129200	Active TSS	Stomach Smooth Muscle	stomach
42	chr9:19128800-19129200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr9:19128800-19129400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr9:19128800-19129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:19128800-19129600	Enhancers	GM12878-XiMat	blood
46	chr9:19128800-19129600	Enhancers	HUVEC	blood vessel
47	chr9:19128800-19129800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:19128800-19129800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr9:19128800-19130200	Enhancers	Stomach Mucosa	stomach
50	chr9:19128800-19130400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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