Variant report

Variant	rs369043787
Chromosome Location	chr12:57110215-57110216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57109382-57110822	PANC-1	pancreas:	n/a	n/a
2	SPI1	chr12:57110142-57110676	HL-60	blood:	n/a	n/a
3	POLR2A	chr12:57109108-57110760	HL-60	blood:	n/a	n/a
4	POLR2A	chr12:57109219-57110872	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:57109223-57113587	K562	blood:	n/a	n/a
6	POLR2A	chr12:57109373-57115069	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:57109473-57110293	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:57109486-57115298	Hela-S3	cervix:	n/a	n/a
9	MTA3	chr12:57109628-57110229	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:57109459-57110558	GM12891	blood:	n/a	n/a
11	POLR2A	chr12:57110092-57110514	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:57109177-57115890	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr12:57109444-57110590	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:57109197-57110693	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:57109238-57110415	GM12891	blood:	n/a	n/a
16	POLR2A	chr12:57109046-57111519	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:57109930-57110637	K562	blood:	n/a	n/a
18	POLR2A	chr12:57109462-57111036	GM12891	blood:	n/a	n/a
19	POLR2A	chr12:57109230-57111658	K562	blood:	n/a	n/a
20	POLR2A	chr12:57109871-57110278	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:57109283-57116293	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:57109459-57111272	K562	blood:	n/a	n/a
23	POLR2A	chr12:57109278-57110564	MCF-7	breast:	n/a	n/a
24	POLR2A	chr12:57109342-57110329	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:57109555-57110829	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:57109829-57110731	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr12:57110013-57110525	HCT-116	colon:	n/a	n/a
28	POLR2A	chr12:57109094-57117058	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr12:57109763-57110607	U87	brain:	n/a	n/a
30	POLR2A	chr12:57109165-57110714	GM12892	blood:	n/a	n/a
31	POLR2A	chr12:57109930-57110618	ECC-1	luminal epithelium:	n/a	n/a
32	ZNF263	chr12:57109946-57110607	HEK293-T-REx	kidney:	n/a	chr12:57110379-57110400
33	POLR2A	chr12:57109115-57110514	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:57109250-57110612	A549	lung:	n/a	n/a
35	POLR2A	chr12:57109769-57110500	U87	brain:	n/a	n/a
36	POLR2A	chr12:57109564-57110655	GM12892	blood:	n/a	n/a
37	POLR2A	chr12:57108026-57111457	HepG2	liver:	n/a	n/a
38	HEY1	chr12:57110055-57110696	K562	blood:	n/a	n/a
39	POLR2A	chr12:57109291-57111137	K562	blood:	n/a	n/a
40	POLR2A	chr12:57109506-57110907	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:57109356-57117115	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:57109353-57111565	HL-60	blood:	n/a	n/a
43	POLR2A	chr12:57110144-57110556	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr12:57109501-57110656	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:57109491-57110693	K562	blood:	n/a	n/a
46	POLR2A	chr12:57109111-57113222	GM12892	blood:	n/a	n/a
47	POLR2A	chr12:57109481-57110867	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr12:57108774-57111413	K562	blood:	n/a	n/a
49	POLR2A	chr12:57109422-57111685	K562	blood:	n/a	n/a
50	POLR2A	chr12:57109233-57116354	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57078008..57083064-chr12:57107591..57112002,6	MCF-7	breast:
2	chr12:57025967..57028369-chr12:57109076..57111615,2	K562	blood:
3	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
4	chr12:57029529..57031708-chr12:57108822..57111712,2	K562	blood:
5	chr12:57079048..57083970-chr12:57107938..57112602,6	K562	blood:
6	chr12:57098172..57100413-chr12:57108972..57110548,2	MCF-7	breast:

No data

Variant related genes	Relation type
NACA	TF binding region
ENSG00000076108	Chromatin interaction
ENSG00000110958	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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559016	chr12:57095815-57112637	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3378333	chr12:57109685-57113883	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3367526	chr12:57109835-57113733	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv3356085	chr12:57110085-57113583	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57104000-57114600	Weak transcription	Fetal Brain Male	brain
2	chr12:57104600-57112600	Strong transcription	Fetal Intestine Large	intestine
3	chr12:57104600-57115000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:57104800-57110400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr12:57104800-57110600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:57104800-57110600	Strong transcription	Osteobl	bone
7	chr12:57104800-57111000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:57104800-57111200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:57104800-57111200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:57104800-57111200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:57104800-57111200	Strong transcription	HSMM	muscle
12	chr12:57104800-57111400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:57105000-57110400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:57105000-57110400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr12:57105000-57110600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:57105000-57110600	Strong transcription	HepG2	liver
17	chr12:57105000-57110600	Strong transcription	NHDF-Ad	bronchial
18	chr12:57105000-57110800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr12:57105000-57111200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:57105000-57111400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:57105000-57111600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:57105200-57110400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr12:57105200-57110400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:57105200-57110400	Strong transcription	HSMMtube	muscle
25	chr12:57105200-57110600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:57105200-57111200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:57105200-57112200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:57105800-57112200	Weak transcription	Fetal Heart	heart
29	chr12:57106000-57110600	Strong transcription	Brain Anterior Caudate	brain
30	chr12:57106000-57111000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
31	chr12:57106200-57110400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:57106400-57110400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr12:57106400-57110400	Strong transcription	Colonic Mucosa	Colon
34	chr12:57106400-57111000	Strong transcription	NHLF	lung
35	chr12:57106400-57111200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:57107200-57110400	Strong transcription	Aorta	Aorta
37	chr12:57107400-57113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:57107600-57110600	Genic enhancers	Fetal Thymus	thymus
39	chr12:57107600-57111400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr12:57107800-57112600	Weak transcription	Fetal Kidney	kidney
41	chr12:57108200-57110400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:57108400-57110400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:57108400-57110800	Genic enhancers	Thymus	Thymus
44	chr12:57108400-57115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:57108600-57110400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:57108600-57110400	Strong transcription	Gastric	stomach
47	chr12:57108600-57110600	Genic enhancers	HMEC	breast
48	chr12:57108600-57117200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:57108800-57110600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:57109000-57110400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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