Variant report

Variant	rs371271978
Chromosome Location	chr12:49523013-49523014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49522817-49525243	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:49522738-49526030	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:49522676-49525736	HUVEC	blood vessel:	n/a	n/a
4	POU2F2	chr12:49522828-49525701	GM12878	blood:	n/a	chr12:49522997-49523011 chr12:49525219-49525231 chr12:49525214-49525226 chr12:49522999-49523012 chr12:49522999-49523012 chr12:49522999-49523012
5	POLR2A	chr12:49522681-49523412	HL-60	blood:	n/a	n/a
6	POLR2A	chr12:49522806-49525664	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:49522796-49525651	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:49522867-49523537	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:49519438-49525993	GM12892	blood:	n/a	n/a
10	ZNF263	chr12:49522972-49523379	HEK293-T-REx	kidney:	n/a	n/a
11	POLR2A	chr12:49522517-49526329	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr12:49522797-49525741	K562	blood:	n/a	n/a
13	POLR2A	chr12:49522927-49523592	A549	lung:	n/a	n/a
14	POLR2A	chr12:49522759-49523051	Hela-S3	cervix:	n/a	n/a
15	MTA3	chr12:49522698-49523070	GM12878	blood:	n/a	n/a
16	HEY1	chr12:49520325-49525632	K562	blood:	n/a	chr12:49525016-49525031 chr12:49523999-49524014 chr12:49525182-49525197
17	POLR2A	chr12:49520242-49523256	U87	brain:	n/a	n/a
18	POLR2A	chr12:49522483-49525802	U87	brain:	n/a	n/a
19	POLR2A	chr12:49522801-49525229	A549	lung:	n/a	n/a
20	POLR2A	chr12:49522669-49525607	K562	blood:	n/a	n/a
21	POLR2A	chr12:49520390-49525928	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:49522978-49523529	A549	lung:	n/a	n/a
23	POLR2A	chr12:49522548-49523066	K562	blood:	n/a	n/a
24	POLR2A	chr12:49522855-49525624	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr12:49522599-49525738	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr12:49522946-49523555	A549	lung:	n/a	n/a
27	POLR2A	chr12:49522852-49523165	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:49522760-49525913	GM12878	blood:	n/a	n/a
29	HEY1	chr12:49522801-49525630	K562	blood:	n/a	chr12:49525016-49525031 chr12:49523999-49524014 chr12:49525182-49525197
30	POLR2A	chr12:49520416-49525737	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:49519160-49525710	U87	brain:	n/a	n/a
32	POLR2A	chr12:49522612-49525792	HUVEC	blood vessel:	n/a	n/a
33	USF2	chr12:49522992-49523189	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:49522795-49525724	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr12:49523013-49525602	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:49519189-49525680	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:49520104-49525589	GM12892	blood:	n/a	n/a
38	POLR2A	chr12:49522546-49525640	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:49520159-49525725	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr12:49522889-49523801	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:49522726-49523052	SK-N-SH	brain:	n/a	n/a
42	PML	chr12:49522722-49523174	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:49519868-49525630	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:49522681-49525691	K562	blood:	n/a	n/a
45	POLR2A	chr12:49522611-49525701	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr12:49519435-49525804	GM12892	blood:	n/a	n/a
47	ZBTB33	chr12:49522877-49523550	K562	blood:	n/a	n/a
48	POLR2A	chr12:49522807-49523135	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:49520071-49525613	GM12891	blood:	n/a	n/a
50	POLR2A	chr12:49522741-49525664	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
2	chr12:49522979..49526796-chr12:49655970..49661455,13	MCF-7	breast:
3	chr12:49453587..49454404-chr12:49522959..49523795,2	Hela-S3	cervix:
4	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
5	chr12:49408415..49414757-chr12:49522619..49525582,9	MCF-7	breast:
6	chr12:49500412..49506796-chr12:49520694..49526646,13	MCF-7	breast:
7	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
8	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:
9	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
10	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
11	chr12:49519914..49528393-chr12:49656527..49662615,75	K562	blood:
12	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:
13	chr12:49522685..49527255-chr12:49580115..49585539,18	MCF-7	breast:
14	chr12:49497954..49506685-chr12:49522695..49526444,13	MCF-7	breast:
15	chr12:49450455..49459531-chr12:49522374..49527837,16	MCF-7	breast:
16	chr12:49493937..49507579-chr12:49519161..49528577,46	K562	blood:
17	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
18	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
19	chr12:49522957..49526705-chr12:49580771..49584514,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258017	TF binding region
ENSG00000167550	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000257346	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv975485	chr12:49521410-49525683	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	124 gene(s)	inside rSNPs	diseases
5	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49519200-49523600	Weak transcription	Psoas Muscle	Psoas
2	chr12:49519600-49523600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:49520000-49523400	Weak transcription	Small Intestine	intestine
4	chr12:49520400-49523400	Strong transcription	Fetal Stomach	stomach
5	chr12:49520600-49523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:49520600-49523200	Strong transcription	Fetal Intestine Large	intestine
7	chr12:49520600-49523200	Strong transcription	Placenta	Placenta
8	chr12:49520600-49523400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:49520600-49523400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:49520600-49523400	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:49520800-49523200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:49520800-49523200	Strong transcription	Primary hematopoietic stem cells	blood
13	chr12:49520800-49523200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:49520800-49523200	Strong transcription	Adipose Nuclei	Adipose
15	chr12:49520800-49523200	Strong transcription	Brain Substantia Nigra	brain
16	chr12:49520800-49523200	Genic enhancers	K562	blood
17	chr12:49520800-49523400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:49520800-49523400	Strong transcription	Colonic Mucosa	Colon
19	chr12:49520800-49523400	Strong transcription	Fetal Brain Female	brain
20	chr12:49520800-49523400	Strong transcription	Fetal Kidney	kidney
21	chr12:49520800-49523400	Strong transcription	Right Ventricle	heart
22	chr12:49520800-49523600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:49520800-49523600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:49520800-49523600	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr12:49521000-49523200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:49521000-49523400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:49521000-49523400	Strong transcription	Fetal Intestine Small	intestine
28	chr12:49521000-49523400	Strong transcription	Rectal Smooth Muscle	rectum
29	chr12:49521000-49523400	Strong transcription	HSMMtube	muscle
30	chr12:49521000-49523600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:49521000-49523600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:49521200-49523400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:49521200-49523600	Strong transcription	Liver	Liver
34	chr12:49521200-49523800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:49521600-49523600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr12:49521800-49523200	Strong transcription	Thymus	Thymus
37	chr12:49522000-49524200	Weak transcription	Ovary	ovary
38	chr12:49522400-49523200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:49522400-49523200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:49522400-49523400	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr12:49522400-49523400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:49522400-49523800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:49522600-49523200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:49522600-49523200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:49522600-49523200	Strong transcription	Fetal Brain Male	brain
46	chr12:49522600-49523400	Genic enhancers	Primary T cells from cord blood	blood
47	chr12:49522600-49523400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:49522600-49523400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:49522600-49523400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:49522600-49523400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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