Variant report

Variant	rs12822887
Chromosome Location	chr12:57111672-57111673
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57111481-57111877	GM12892	blood:	n/a	n/a
2	TCF12	chr12:57111487-57112053	GM12878	blood:	n/a	n/a
3	EP300	chr12:57111556-57111748	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:57111493-57112758	GM12891	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	chr12:57109486-57115298	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:57111528-57111788	A549	lung:	n/a	n/a
9	POLR2A	chr12:57111499-57111774	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:57111525-57111912	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr12:57111548-57111863	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:57111326-57114042	GM12892	blood:	n/a	n/a
13	POLR2A	chr12:57111488-57111952	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:57109177-57115890	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr12:57111472-57111996	GM12891	blood:	n/a	n/a
16	HEY1	chr12:57111440-57112682	K562	blood:	n/a	n/a
17	POLR2A	chr12:57110844-57111688	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:57109283-57116293	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:57111483-57112504	H1-hESC	embryonic stem cell:	n/a	n/a
20	HEY1	chr12:57111470-57111835	K562	blood:	n/a	n/a
21	POLR2A	chr12:57109094-57117058	SK-N-MC	brain:	n/a	n/a
22	TCF12	chr12:57111452-57112024	GM12878	blood:	n/a	n/a
23	POU2F2	chr12:57111518-57111793	GM12891	blood:	n/a	n/a
24	SP1	chr12:57111454-57112054	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:57110773-57112301	GM12891	blood:	n/a	n/a
26	POLR2A	chr12:57111363-57112218	GM12891	blood:	n/a	n/a
27	SP1	chr12:57111474-57112143	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:57109356-57117115	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:57111468-57111696	Hela-S3	cervix:	n/a	n/a
30	HEY1	chr12:57111571-57111955	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:57110895-57113126	GM12892	blood:	n/a	n/a
32	POLR2A	chr12:57111463-57112022	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:57109111-57113222	GM12892	blood:	n/a	n/a
34	POLR2A	chr12:57109422-57111685	K562	blood:	n/a	n/a
35	POLR2A	chr12:57109233-57116354	PANC-1	pancreas:	n/a	n/a
36	HEY1	chr12:57111540-57111862	HepG2	liver:	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	chr12:56510526..56513327-chr12:57111291..57113363,2	K562	blood:
3	chr12:57111474..57114081-chr12:57143216..57146135,2	MCF-7	breast:
4	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
5	chr12:57029529..57031708-chr12:57108822..57111712,2	K562	blood:
6	chr12:57079048..57083970-chr12:57107938..57112602,6	K562	blood:

No data

Variant related genes	Relation type
NACA	TF binding region
ENSG00000139641	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000110958	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	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
6	esv20867	chr12:57110564-57115506	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv2235195	chr12:57111420-57111846	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3431259	chr12:57111616-57111814	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	8 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	chr12:57105200-57112200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:57105800-57112200	Weak transcription	Fetal Heart	heart
6	chr12:57107400-57113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:57107800-57112600	Weak transcription	Fetal Kidney	kidney
8	chr12:57108400-57115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:57108600-57117200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:57109200-57116200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:57109400-57112000	Strong transcription	Fetal Intestine Small	intestine
12	chr12:57109400-57114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:57109600-57112600	Weak transcription	HUVEC	blood vessel
14	chr12:57109600-57115400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
15	chr12:57109600-57116000	Genic enhancers	Fetal Muscle Leg	muscle
16	chr12:57109600-57117000	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr12:57109600-57117000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:57109600-57117800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:57109800-57111800	Genic enhancers	Brain Hippocampus Middle	brain
20	chr12:57109800-57113600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:57109800-57113600	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr12:57109800-57114400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:57109800-57114600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:57109800-57115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:57109800-57117200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:57110000-57112600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:57110000-57112800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:57110200-57112000	Weak transcription	Fetal Lung	lung
29	chr12:57110200-57112600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:57110200-57112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:57110200-57112600	Weak transcription	Esophagus	oesophagus
32	chr12:57110200-57113200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:57110200-57115400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:57110200-57115800	Genic enhancers	Placenta	Placenta
35	chr12:57110200-57116800	Genic enhancers	Fetal Stomach	stomach
36	chr12:57110400-57112000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:57110400-57112600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:57110400-57112600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:57110400-57112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:57110400-57112600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:57110400-57112600	Weak transcription	Aorta	Aorta
42	chr12:57110400-57112600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:57110400-57112600	Weak transcription	Stomach Mucosa	stomach
44	chr12:57110400-57112600	Weak transcription	Hela-S3	cervix
45	chr12:57110400-57112600	Weak transcription	HSMMtube	muscle
46	chr12:57110400-57112600	Weak transcription	K562	blood
47	chr12:57110400-57112800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:57110400-57113000	Weak transcription	Gastric	stomach
49	chr12:57110400-57113200	Weak transcription	Brain Angular Gyrus	brain
50	chr12:57110400-57116800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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