Variant report

Variant	rs142189260
Chromosome Location	chr12:9277202-9277203
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:9277178-9277228	BE2_C	brain:	n/a
2	chr12:9277178-9277228	AoSMC	blood vessel:	n/a
3	chr12:9277178-9277228	NHDF-neo	bronchial:	n/a
4	chr12:9277178-9277228	GM12892	blood:	n/a
5	chr12:9277178-9277228	HCT-116	colon:	n/a
6	chr12:9277178-9277228	SK-N-MC	brain:	n/a
7	chr12:9277178-9277228	SKMC	muscle:	n/a
8	chr12:9277178-9277228	GM12891	blood:	n/a
9	chr12:9277178-9277228	U87	brain:	n/a
10	chr12:9277178-9277228	Jurkat	blood:	n/a
11	chr12:9277178-9277228	AG04450	lung:	fetal
12	chr12:9277178-9277228	K562	blood:	n/a
13	chr12:9277178-9277228	MCF10A-Er-Src	breast:	n/a
14	chr12:9277178-9277228	BJ	skin:	n/a
15	chr12:9277178-9277228	PANC-1	pancreas:	n/a
16	chr12:9277178-9277228	HUVEC	blood vessel:	n/a
17	chr12:9277178-9277228	NH-A	brain:	n/a
18	chr12:9277178-9277228	AG04449	skin:	fetal
19	chr12:9277178-9277228	HAEpiC	amniotic membrane:	n/a
20	chr12:9277178-9277228	SAEC	small airway:	n/a
21	chr12:9277178-9277228	HepG2	liver:	n/a
22	chr12:9277178-9277228	HMEC	breast:	n/a
23	chr12:9277178-9277228	GM06990	blood:	n/a
24	chr12:9277178-9277228	CMK	blood:	n/a
25	chr12:9277178-9277228	T-47D	breast:	n/a
26	chr12:9277178-9277228	ECC-1	luminal epithelium:	n/a
27	chr12:9277178-9277228	ovcar-3	ovarian:	n/a
28	chr12:9277178-9277228	AG09309	skin:	n/a
29	chr12:9277178-9277228	HCM	heart:	n/a
30	chr12:9277178-9277228	SK-N-SH_RA	brain:	n/a
31	chr12:9277178-9277228	HRCEpiC	kidney:	n/a
32	chr12:9277178-9277228	PFSK-1	brain:	n/a
33	chr12:9277178-9277228	GM12878	blood:	n/a
34	chr12:9277178-9277228	RPTEC	kidney:	n/a
35	chr12:9277178-9277228	A549	lung:	n/a
36	chr12:9277178-9277228	Caco-2	colon:	n/a
37	chr12:9277178-9277228	IMR90	lung:	fetal
38	chr12:9277178-9277228	HIPEpiC	eye:	n/a
39	chr12:9277178-9277228	HL-60	blood:	n/a
40	chr12:9277178-9277228	HCPEpiC	choroid plexus:	n/a
41	chr12:9277178-9277228	HRE	kidney:	n/a
42	chr12:9277178-9277228	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:9277178-9277228	AG10803	skin:	n/a
44	chr12:9277178-9277228	Hepatocyte	liver:	n/a
45	chr12:9277178-9277228	HEK293	kidney:	embryo
46	chr12:9277178-9277228	NB4	blood:	n/a
47	chr12:9277178-9277228	HRPEpiC	eye:	n/a
48	chr12:9277178-9277228	NT2-D1	testis:	n/a
49	chr12:9277178-9277228	PrEC	prostate:	n/a
50	chr12:9277178-9277228	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ENSG00000256937	CpG island
ENSG00000211542	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv976735	chr12:9274937-9303290	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9269000-9277400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:9269000-9280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:9269200-9280400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9270000-9278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:9270200-9289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:9271800-9280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:9272000-9289000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:9272200-9280200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:9272200-9282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:9274200-9277600	Enhancers	Hela-S3	cervix
14	chr12:9275000-9287400	Weak transcription	Gastric	stomach
15	chr12:9275400-9279400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:9275600-9277800	Enhancers	HepG2	liver
17	chr12:9275800-9278000	Flanking Active TSS	Liver	Liver
18	chr12:9276000-9277400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:9276000-9278000	Enhancers	Fetal Stomach	stomach
20	chr12:9276400-9277400	Active TSS	Rectal Smooth Muscle	rectum
21	chr12:9276400-9277400	Enhancers	Right Ventricle	heart
22	chr12:9276400-9277600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:9276400-9278000	Enhancers	Fetal Lung	lung
24	chr12:9276600-9277400	Enhancers	Ovary	ovary
25	chr12:9276600-9277600	Enhancers	Adipose Nuclei	Adipose
26	chr12:9276600-9277800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:9276600-9278400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:9276800-9277600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr12:9276800-9277600	Enhancers	Placenta	Placenta
30	chr12:9276800-9277600	Enhancers	Lung	lung
31	chr12:9276800-9277800	Enhancers	Psoas Muscle	Psoas
32	chr12:9276800-9279000	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:9277000-9277400	Enhancers	Colonic Mucosa	Colon
34	chr12:9277000-9277400	Enhancers	Esophagus	oesophagus
35	chr12:9277000-9277600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:9277000-9277600	Enhancers	Left Ventricle	heart
37	chr12:9277000-9277600	Enhancers	Right Atrium	heart
38	chr12:9277000-9277600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr12:9277200-9277400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr12:9277200-9277400	Flanking Active TSS	Spleen	Spleen
41	chr12:9277200-9277600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:9277200-9281000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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