Variant report

Variant	rs539843100
Chromosome Location	chr12:104696809-104696810
allele	C/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	SP1	chr12:104696322-104698630	A549	lung:	n/a	n/a
2	FOSL2	chr12:104696444-104698901	A549	lung:	n/a	n/a
3	JUND	chr12:104696199-104696955	A549	lung:	n/a	n/a
4	POLR2A	chr12:104696633-104697254	K562	blood:	n/a	n/a
5	POLR2A	chr12:104696416-104698790	HUVEC	blood vessel:	n/a	n/a
6	USF1	chr12:104696465-104696983	A549	lung:	n/a	n/a
7	POLR2A	chr12:104696675-104698020	GM12892	blood:	n/a	n/a
8	YY1	chr12:104696725-104698405	A549	lung:	n/a	chr12:104697692-104697703 chr12:104698302-104698312 chr12:104697691-104697700
9	POLR2A	chr12:104696659-104698041	GM12892	blood:	n/a	n/a
10	SP1	chr12:104695282-104698790	A549	lung:	n/a	n/a
11	MAX	chr12:104696465-104698833	A549	lung:	n/a	chr12:104698605-104698614
12	TCF12	chr12:104695268-104701849	A549	lung:	n/a	n/a
13	POLR2A	chr12:104696486-104697391	K562	blood:	n/a	n/a
14	POLR2A	chr12:104696354-104701825	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr12:104696544-104702660	HepG2	liver:	n/a	n/a
16	CTCF	chr12:104696760-104696910	GM12865	blood:	n/a	n/a
17	POLR2A	chr12:104684682-104705657	A549	lung:	n/a	n/a
18	POLR2A	chr12:104696596-104697048	HCT-116	colon:	n/a	n/a
19	SIX5	chr12:104695288-104701950	A549	lung:	n/a	chr12:104700345-104700361 chr12:104699538-104699547 chr12:104698479-104698493 chr12:104700866-104700882
20	REST	chr12:104696751-104697313	A549	lung:	n/a	n/a
21	REST	chr12:104696446-104701824	A549	lung:	n/a	chr12:104698081-104698101 chr12:104697868-104697886 chr12:104698081-104698101 chr12:104698082-104698100 chr12:104698081-104698101
22	POLR2A	chr12:104696743-104696823	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr12:104696471-104698728	HUVEC	blood vessel:	n/a	n/a
24	JUN	chr12:104696699-104697152	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:104696555-104698600	Hela-S3	cervix:	n/a	n/a
26	MAX	chr12:104696614-104698343	A549	lung:	n/a	n/a
27	POLR2A	chr12:104696508-104697208	HCT-116	colon:	n/a	n/a
28	POLR2A	chr12:104696637-104697373	K562	blood:	n/a	n/a
29	SIN3AK20	chr12:104696527-104697457	A549	lung:	n/a	n/a
30	MAX	chr12:104696603-104698042	A549	lung:	n/a	n/a
31	MTA3	chr12:104696698-104698028	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:104696736-104696995	A549	lung:	n/a	n/a
33	POLR2A	chr12:104696582-104698543	HepG2	liver:	n/a	n/a
34	BCL3	chr12:104696506-104698772	A549	lung:	n/a	chr12:104697692-104697701 chr12:104697695-104697704
35	ELF1	chr12:104696503-104696952	A549	lung:	n/a	n/a
36	POLR2A	chr12:104696376-104698758	Hela-S3	cervix:	n/a	n/a
37	BCL3	chr12:104696463-104700456	A549	lung:	n/a	chr12:104697692-104697701 chr12:104697695-104697704
38	POLR2A	chr12:104696669-104698331	A549	lung:	n/a	n/a
39	TCF7L2	chr12:104696783-104698023	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr12:104696683-104697497	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr12:104696397-104698292	A549	lung:	n/a	n/a
42	POLR2A	chr12:104696643-104698019	IMR90	lung:	n/a	n/a
43	POLR2A	chr12:104696553-104698359	Hela-S3	cervix:	n/a	n/a
44	GATA3	chr12:104696427-104698835	A549	lung:	n/a	chr12:104696608-104696620 chr12:104696600-104696617 chr12:104696609-104696618 chr12:104696611-104696618 chr12:104696609-104696619
45	POLR2A	chr12:104695319-104698854	PANC-1	pancreas:	n/a	n/a
46	EP300	chr12:104696413-104698489	A549	lung:	n/a	chr12:104698076-104698090
47	POLR2A	chr12:104696550-104698220	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104681069..104682728-chr12:104694338..104697222,2	MCF-7	breast:
2	chr12:104696590..104698591-chr12:104702374..104705113,2	MCF-7	breast:
3	chr12:104680142..104683904-chr12:104694272..104698636,5	MCF-7	breast:

Variant related genes	Relation type
EID3	TF binding region
ENSG00000198431	Chromatin interaction

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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv52994	chr12:104696286-104701777	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:104686200-104700600	Strong transcription	Dnd41	blood
4	chr12:104686400-104697600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:104687200-104700600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:104687400-104697000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104687600-104697400	Weak transcription	Gastric	stomach
8	chr12:104689600-104697400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:104690200-104697000	Weak transcription	Spleen	Spleen
10	chr12:104690400-104697600	Weak transcription	Lung	lung
11	chr12:104690600-104697000	Weak transcription	HSMMtube	muscle
12	chr12:104690800-104698000	Genic enhancers	Hela-S3	cervix
13	chr12:104691200-104702200	Transcr. at gene 5' and 3'	A549	lung
14	chr12:104691600-104697000	Weak transcription	Colonic Mucosa	Colon
15	chr12:104691800-104703400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:104693400-104697200	Weak transcription	Aorta	Aorta
17	chr12:104694800-104697200	Weak transcription	HepG2	liver
18	chr12:104695600-104697200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:104695800-104700800	Strong transcription	K562	blood
20	chr12:104696200-104698400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:104696400-104697200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
22	chr12:104696600-104697000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:104696600-104697000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:104696600-104697000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:104696600-104697000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:104696600-104697000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:104696600-104697000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:104696600-104697000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:104696600-104697000	Enhancers	Liver	Liver
30	chr12:104696600-104697000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:104696600-104697000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:104696600-104697000	Enhancers	Stomach Mucosa	stomach
33	chr12:104696600-104697000	Enhancers	HMEC	breast
34	chr12:104696600-104697000	Flanking Active TSS	NHEK	skin
35	chr12:104696600-104697200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:104696600-104697200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:104696600-104697200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:104696600-104697200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr12:104696600-104697200	Flanking Active TSS	Right Ventricle	heart
40	chr12:104696600-104697200	Flanking Active TSS	GM12878-XiMat	blood
41	chr12:104696600-104697400	Enhancers	Small Intestine	intestine
42	chr12:104696600-104697800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:104696600-104698200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
44	chr12:104696600-104698400	Transcr. at gene 5' and 3'	Osteobl	bone
45	chr12:104696600-104701600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:104696800-104697000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:104696800-104697000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:104696800-104697000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:104696800-104697000	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:104696800-104697000	Enhancers	Primary T cells fromperipheralblood	blood

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