Variant report

Variant	rs561780372
Chromosome Location	chr12:57111227-57111228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr12:57110992-57111236	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr12:57111127-57111323	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:57110894-57111263	HepG2	liver:	n/a	n/a
4	HEY1	chr12:57110928-57111323	K562	blood:	n/a	n/a
5	POLR2A	chr12:57110739-57111235	GM12892	blood:	n/a	n/a
6	POLR2A	chr12:57109223-57113587	K562	blood:	n/a	n/a
7	POLR2A	chr12:57109373-57115069	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:57109486-57115298	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:57110765-57111561	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:57109177-57115890	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr12:57109046-57111519	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:57109230-57111658	K562	blood:	n/a	n/a
13	POLR2A	chr12:57110844-57111688	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:57109283-57116293	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:57109459-57111272	K562	blood:	n/a	n/a
16	POLR2A	chr12:57109094-57117058	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr12:57111018-57111371	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:57110944-57111487	A549	lung:	n/a	n/a
19	POLR2A	chr12:57110773-57112301	GM12891	blood:	n/a	n/a
20	POLR2A	chr12:57110871-57111594	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr12:57108026-57111457	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:57109356-57117115	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:57109353-57111565	HL-60	blood:	n/a	n/a
24	POLR2A	chr12:57110895-57113126	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:57109111-57113222	GM12892	blood:	n/a	n/a
26	POLR2A	chr12:57108774-57111413	K562	blood:	n/a	n/a
27	POLR2A	chr12:57109422-57111685	K562	blood:	n/a	n/a
28	POLR2A	chr12:57109233-57116354	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 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:

No data

Variant related genes	Relation type
NACA	TF binding region
ENSG00000076108	Chromatin interaction
ENSG00000110958	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

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	chr12:57104800-57111400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:57105000-57111400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:57105000-57111600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:57105200-57112200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:57105800-57112200	Weak transcription	Fetal Heart	heart
9	chr12:57107400-57113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:57107600-57111400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:57107800-57112600	Weak transcription	Fetal Kidney	kidney
12	chr12:57108400-57115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:57108600-57117200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:57109200-57111600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:57109200-57116200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:57109400-57111400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:57109400-57112000	Strong transcription	Fetal Intestine Small	intestine
18	chr12:57109400-57114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:57109600-57111400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:57109600-57111400	Genic enhancers	Colon Smooth Muscle	Colon
21	chr12:57109600-57111400	Enhancers	Right Atrium	heart
22	chr12:57109600-57112600	Weak transcription	HUVEC	blood vessel
23	chr12:57109600-57115400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:57109600-57116000	Genic enhancers	Fetal Muscle Leg	muscle
25	chr12:57109600-57117000	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr12:57109600-57117000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:57109600-57117800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:57109800-57111800	Genic enhancers	Brain Hippocampus Middle	brain
29	chr12:57109800-57113600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:57109800-57113600	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr12:57109800-57114400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:57109800-57114600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:57109800-57115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:57109800-57117200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:57110000-57112600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:57110000-57112800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:57110200-57111400	Enhancers	Brain Substantia Nigra	brain
38	chr12:57110200-57112000	Weak transcription	Fetal Lung	lung
39	chr12:57110200-57112600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:57110200-57112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:57110200-57112600	Weak transcription	Esophagus	oesophagus
42	chr12:57110200-57113200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:57110200-57115400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr12:57110200-57115800	Genic enhancers	Placenta	Placenta
45	chr12:57110200-57116800	Genic enhancers	Fetal Stomach	stomach
46	chr12:57110400-57111400	Strong transcription	Fetal Brain Female	brain
47	chr12:57110400-57112000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:57110400-57112600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:57110400-57112600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:57110400-57112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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