Variant report

Variant	rs142694888
Chromosome Location	chr12:9557568-9557569
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1035958	chr12:9472365-9579109	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv898744	chr12:9518222-9668380	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv898745	chr12:9529015-9716126	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv1825533	chr12:9541542-9736409	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv1795205	chr12:9542718-9559624	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv1816184	chr12:9542718-9559624	Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv1801325	chr12:9542918-9561619	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv1817147	chr12:9542918-9561619	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv1831904	chr12:9542918-9561619	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv1848205	chr12:9542918-9561619	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv508665	chr12:9546233-9601755	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv1799431	chr12:9547602-9559624	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
18	esv1791798	chr12:9547802-9559424	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
19	esv1819230	chr12:9547802-9559424	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
20	esv1825682	chr12:9547802-9561619	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
21	esv1812419	chr12:9547988-9559624	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
22	esv1826429	chr12:9547988-9559624	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers	lncRNA	n/a	inside rSNPs	diseases
23	esv1850370	chr12:9547988-9559624	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
24	esv1822739	chr12:9548378-9561963	Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
25	esv1845778	chr12:9548715-9559624	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
26	esv1809337	chr12:9548715-9562313	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
27	esv1843425	chr12:9548915-9561619	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
28	esv1821022	chr12:9548915-9562113	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
29	esv1810443	chr12:9549069-9557983	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
30	nsv975442	chr12:9549134-9561794	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
31	esv2568009	chr12:9550935-9731598	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	nsv557357	chr12:9551375-9726469	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	esv3345074	chr12:9554385-9559983	Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	lncRNA	n/a	inside rSNPs	diseases
34	nsv557358	chr12:9554463-9557655	Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	lncRNA	n/a	inside rSNPs	diseases
35	esv3344045	chr12:9555110-9557858	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
36	nsv557359	chr12:9555110-9558586	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
37	nsv557360	chr12:9555110-9558745	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	lncRNA	n/a	inside rSNPs	diseases
38	esv1792362	chr12:9555110-9558905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	lncRNA	n/a	inside rSNPs	diseases
39	nsv557361	chr12:9555110-9558905	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
40	esv1803766	chr12:9555110-9650458	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
41	nsv557362	chr12:9555110-9720235	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
42	esv10785	chr12:9555111-9558973	Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
43	nsv557363	chr12:9555375-9557655	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
44	nsv557364	chr12:9555375-9558097	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
45	nsv557365	chr12:9555375-9558318	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
46	nsv557366	chr12:9555375-9558745	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	inside rSNPs	diseases
47	esv1846629	chr12:9555375-9558905	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
48	esv1847487	chr12:9555375-9558905	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	lncRNA	n/a	inside rSNPs	diseases
49	esv1848328	chr12:9555375-9558905	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	lncRNA	n/a	inside rSNPs	diseases
50	nsv557367	chr12:9555375-9617083	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs142694888	RP11-599J14.2	cis	Nerve Tibial	GTEx
rs142694888	RP11-726G1.1	cis	Nerve Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:9545400-9573800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:9545400-9575600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:9546200-9559400	Weak transcription	A549	lung
5	chr12:9547000-9558600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:9549400-9558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:9549400-9559200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:9549400-9564000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:9555200-9557600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:9555600-9559400	Weak transcription	Colonic Mucosa	Colon
11	chr12:9555800-9557800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:9555800-9558400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:9556200-9558400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:9556600-9557800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:9557000-9557600	ZNF genes & repeats	Dnd41	blood
16	chr12:9557200-9557600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:9557200-9557800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:9557200-9557800	Bivalent/Poised TSS	Right Ventricle	heart
19	chr12:9557400-9557600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:9557400-9557600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:9557400-9557800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:9557400-9557800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:9557400-9557800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:9557400-9557800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:9557400-9558400	Weak transcription	Fetal Stomach	stomach
26	chr12:9557400-9558600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:9557400-9559200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:9557400-9559400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:9557400-9564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links